Variant report

Variant	nsv498024
Chromosome Location	chr12:123994372-124459856
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9991)
CpG islands
(count:10996)
Chromatin interactive
region (count:545)
LncRNA
region (count:29)
Mature miRNA
region (count: 1)
miRNA target
sites (count:5)

(count:9991 , 50 per page) page: 1 2 3 4 5 6 7 ... 200

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:124286179-124286450	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:124456201-124456464	HepG2	liver:	n/a	n/a
3	ARID3A	chr12:124066707-124067005	K562	blood:	n/a	n/a
4	ARID3A	chr12:124068840-124069198	HepG2	liver:	n/a	n/a
5	ARID3A	chr12:124080339-124081019	HepG2	liver:	n/a	n/a
6	ARID3A	chr12:124313351-124313642	HepG2	liver:	n/a	n/a
7	ARID3A	chr12:124314772-124314780	HepG2	liver:	n/a	n/a
8	ARID3A	chr12:124326569-124326573	HepG2	liver:	n/a	n/a
9	ARID3A	chr12:124292897-124292992	HepG2	liver:	n/a	n/a
10	ARID3A	chr12:124197800-124198689	K562	blood:	n/a	n/a
11	ARID3A	chr12:124457436-124457478	K562	blood:	n/a	n/a
12	ARID3A	chr12:124203292-124204824	K562	blood:	n/a	n/a
13	ARID3A	chr12:124118202-124118430	K562	blood:	n/a	n/a
14	ARID3A	chr12:124086169-124086751	K562	blood:	n/a	n/a
15	ARID3A	chr12:124055889-124056158	HepG2	liver:	n/a	n/a
16	ARID3A	chr12:124003707-124004059	HepG2	liver:	n/a	n/a
17	ARID3A	chr12:124379370-124380391	HepG2	liver:	n/a	n/a
18	ARID3A	chr12:124201918-124202095	K562	blood:	n/a	n/a
19	ARID3A	chr12:124196794-124196994	K562	blood:	n/a	n/a
20	ARID3A	chr12:124066719-124067024	HepG2	liver:	n/a	n/a
21	ARID3A	chr12:124086179-124086778	HepG2	liver:	n/a	n/a
22	ARID3A	chr12:124118134-124118531	HepG2	liver:	n/a	n/a
23	ARID3A	chr12:124017367-124017624	K562	blood:	n/a	n/a
24	ARID3A	chr12:124018494-124018555	K562	blood:	n/a	n/a
25	ARID3A	chr12:124457266-124457559	HepG2	liver:	n/a	n/a
26	ARID3A	chr12:124458587-124458704	K562	blood:	n/a	n/a
27	ARID3A	chr12:124055016-124055130	HepG2	liver:	n/a	n/a
28	ARID3A	chr12:124397088-124397355	HepG2	liver:	n/a	n/a
29	ARID3A	chr12:124286120-124286452	K562	blood:	n/a	n/a
30	ARID3A	chr12:124328880-124329018	K562	blood:	n/a	n/a
31	ARID3A	chr12:124395591-124395654	HepG2	liver:	n/a	n/a
32	ARID3A	chr12:124451639-124452130	K562	blood:	n/a	n/a
33	ARID3A	chr12:124433782-124434567	HepG2	liver:	n/a	n/a
34	ATF1	chr12:124316625-124316924	K562	blood:	n/a	n/a
35	ATF1	chr12:124419518-124419695	K562	blood:	n/a	n/a
36	ATF1	chr12:124345035-124345247	K562	blood:	n/a	n/a
37	ATF1	chr12:124338794-124338962	K562	blood:	n/a	n/a
38	ATF1	chr12:124222484-124222656	K562	blood:	n/a	n/a
39	ATF1	chr12:124404059-124404487	K562	blood:	n/a	n/a
40	ATF1	chr12:124086461-124086850	K562	blood:	n/a	n/a
41	ATF1	chr12:124227573-124227792	K562	blood:	n/a	n/a
42	ATF1	chr12:124362714-124362717	K562	blood:	n/a	n/a
43	ATF1	chr12:124204167-124205067	K562	blood:	n/a	n/a
44	ATF1	chr12:124118054-124118572	K562	blood:	n/a	n/a
45	ATF1	chr12:124068826-124069223	K562	blood:	n/a	n/a
46	ATF1	chr12:124197903-124198415	K562	blood:	n/a	n/a
47	ATF1	chr12:124451639-124452352	K562	blood:	n/a	n/a
48	ATF2	chr12:124456208-124456743	H1-hESC	embryonic stem cell:	n/a	n/a
49	ATF2	chr12:124222007-124222708	GM12878	blood:	n/a	n/a
50	ATF2	chr12:124246313-124246745	GM12878	blood:	n/a	n/a

(count:10996 , 50 per page) page: 1 2 3 4 5 6 7 ... 220

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:124428253-124428303	IMR90	lung:	fetal
2	chr12:124068903-124068953	T-47D	breast:	n/a
3	chr12:124458574-124458624	BJ	skin:	n/a
4	chr12:124397810-124397860	HMEC	breast:	n/a
5	chr12:123998085-123998135	HEK293	kidney:	embryo
6	chr12:124086403-124086453	NHBE	bronchial:	n/a
7	chr12:124456164-124456214	GM06990	blood:	n/a
8	chr12:124457083-124457133	SKMC	muscle:	n/a
9	chr12:124421582-124421632	SAEC	small airway:	n/a
10	chr12:124246919-124246969	BJ	skin:	n/a
11	chr12:124371801-124371851	PFSK-1	brain:	n/a
12	chr12:124196011-124196061	HPAEpiC	pulmonary alveolar:	n/a
13	chr12:124422061-124422111	RPTEC	kidney:	n/a
14	chr12:124371660-124371710	GM12892	blood:	n/a
15	chr12:124118173-124118223	ECC-1	luminal epithelium:	n/a
16	chr12:124364298-124364348	MCF-7	breast:	n/a
17	chr12:124428253-124428303	IMR90	lung:	fetal
18	chr12:124068903-124068953	T-47D	breast:	n/a
19	chr12:124458574-124458624	BJ	skin:	n/a
20	chr12:124397810-124397860	HMEC	breast:	n/a
21	chr12:123998085-123998135	HEK293	kidney:	embryo
22	chr12:124086403-124086453	NHBE	bronchial:	n/a
23	chr12:124456164-124456214	GM06990	blood:	n/a
24	chr12:124457083-124457133	SKMC	muscle:	n/a
25	chr12:124421582-124421632	SAEC	small airway:	n/a
26	chr12:124246919-124246969	BJ	skin:	n/a
27	chr12:124371801-124371851	PFSK-1	brain:	n/a
28	chr12:124196011-124196061	HPAEpiC	pulmonary alveolar:	n/a
29	chr12:124422061-124422111	RPTEC	kidney:	n/a
30	chr12:124371660-124371710	GM12892	blood:	n/a
31	chr12:124118173-124118223	ECC-1	luminal epithelium:	n/a
32	chr12:124364298-124364348	MCF-7	breast:	n/a
33	chr12:124429295-124429345	SKMC	muscle:	n/a
34	chr12:124144432-124144482	MCF-7	breast:	n/a
35	chr12:124268552-124268602	CMK	blood:	n/a
36	chr12:124434452-124434502	Hela-S3	cervix:	n/a
37	chr12:124416315-124416365	HepG2	liver:	n/a
38	chr12:124272433-124272483	BE2_C	brain:	n/a
39	chr12:124119657-124119707	Hepatocyte	liver:	n/a
40	chr12:124086301-124086351	GM19239	blood:	n/a
41	chr12:124371660-124371710	HUVEC	blood vessel:	n/a
42	chr12:124116920-124116970	HepG2	liver:	n/a
43	chr12:124086403-124086453	SAEC	small airway:	n/a
44	chr12:124325933-124325983	PANC-1	pancreas:	n/a
45	chr12:124421582-124421632	BJ	skin:	n/a
46	chr12:124196934-124196984	AG10803	skin:	n/a
47	chr12:124393913-124393963	HPAEpiC	pulmonary alveolar:	n/a
48	chr12:124118326-124118376	ProgFib	skin:	n/a
49	chr12:124145110-124145160	Hepatocyte	liver:	n/a
50	chr12:124416142-124416192	AG09319	gingival:	n/a

(count:545 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Distal block	Cell Line	Cell type
1	chr12:123716817..123718990-chr12:124117809..124119418,3	K562	blood:
2	chr12:124056996..124059825-chr12:124068978..124071238,2	MCF-7	breast:
3	chr12:124068907..124069507-chr19:10763953..10764535,2	NB4	blood:
4	chr12:124016749..124018606-chr12:124069216..124071514,2	K562	blood:
5	chr12:124378198..124380132-chr12:124382297..124384260,2	K562	blood:
6	chr12:124369425..124371891-chr12:124388110..124389965,2	MCF-7	breast:
7	chr12:124155376..124157580-chr12:124194948..124197481,2	K562	blood:
8	chr12:123867374..123868909-chr12:124067489..124069464,2	K562	blood:
9	chr12:124389950..124393053-chr12:124455413..124457949,3	MCF-7	breast:
10	chr12:123753500..123755086-chr12:124068992..124070507,2	MCF-7	breast:
11	chr12:123873330..123875210-chr12:124033719..124035422,2	MCF-7	breast:
12	chr12:124368077..124370200-chr12:124371116..124373201,2	MCF-7	breast:
13	chr12:124155686..124156232-chr17:56084289..56085093,2	HCT-116	colon:
14	chr12:123716734..123718943-chr12:124067701..124069242,2	MCF-7	breast:
15	chr12:124180128..124181646-chr12:124198369..124200192,2	MCF-7	breast:
16	chr12:124018073..124019067-chr12:124066380..124067358,3	MCF-7	breast:
17	chr12:124195932..124198840-chr12:124219150..124221074,3	K562	blood:
18	chr12:124351595..124353635-chr12:124356736..124359144,2	K562	blood:
19	chr12:124116659..124120709-chr12:124455290..124460616,5	K562	blood:
20	chr12:124249553..124253179-chr12:124255301..124259435,4	K562	blood:
21	chr12:124195456..124198460-chr12:124455550..124458339,3	MCF-7	breast:
22	chr12:124056030..124058750-chr12:124059393..124062222,4	K562	blood:
23	chr12:124440660..124443329-chr12:124494503..124496915,2	K562	blood:
24	chr12:124204122..124206396-chr12:124225178..124226769,2	K562	blood:
25	chr12:123755242..123756973-chr12:124144725..124146660,2	K562	blood:
26	chr12:124134030..124137334-chr12:124197093..124199913,4	MCF-7	breast:
27	chr12:124117495..124119400-chr12:124126684..124128895,2	MCF-7	breast:
28	chr12:124317067..124318051-chr12:124325149..124326055,2	K562	blood:
29	chr12:124379452..124381499-chr12:124383777..124386818,3	MCF-7	breast:
30	chr12:124123949..124126710-chr12:124128875..124131426,2	K562	blood:
31	chr12:123996470..123998238-chr12:124004249..124005999,2	K562	blood:
32	chr12:124427289..124429927-chr12:124454570..124456176,2	K562	blood:
33	chr12:124102971..124106526-chr12:124116602..124119947,4	MCF-7	breast:
34	chr12:124007811..124010230-chr12:124011879..124014265,2	MCF-7	breast:
35	chr12:124155376..124157580-chr12:124194948..124197481,2	K562	blood:
36	chr12:124154972..124157295-chr12:124158575..124161176,3	K562	blood:
37	chr12:124120951..124123869-chr12:124130412..124132116,2	K562	blood:
38	chr12:124130507..124132191-chr12:124132895..124134450,2	MCF-7	breast:
39	chr12:124228911..124229911-chr2:86422105..86422677,2	MCF-7	breast:
40	chr12:124084988..124092992-chr12:124114351..124121638,14	K562	blood:
41	chr12:124118155..124119851-chr12:124120256..124121890,2	MCF-7	breast:
42	chr12:124098297..124101264-chr12:124101448..124103367,2	MCF-7	breast:
43	chr12:124117230..124119880-chr12:124454893..124459230,4	K562	blood:
44	chr12:124438676..124440212-chr12:124444135..124446371,2	K562	blood:
45	chr12:124397721..124401102-chr12:124402433..124404220,3	K562	blood:
46	chr12:124067302..124072457-chr12:124084684..124088760,8	K562	blood:
47	chr12:123755830..123757417-chr12:124116609..124118455,2	MCF-7	breast:
48	chr12:124210735..124212878-chr12:124215030..124217220,2	K562	blood:
49	chr12:124286094..124286683-chr12:124412581..124413486,2	MCF-7	breast:
50	chr12:123997284..124000079-chr12:124017073..124019484,2	MCF-7	breast:

(count:29 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DNAH10OS-6	chr12:124452570-124453126	ENSG00000269938.1
2	lnc-DDX55-1	chr12:124080952-124081554	expReg_chr12_11962_+
3	lnc-DNAH10OS-7	chr12:124454537-124454891	ENSG00000270061.1
4	lnc-SNRNP35-2	chr12:123997031-123997972	NONHSAT031595
5	lnc-EIF2B1-3	chr12:124192149-124192324	ENSG00000255839
6	lnc-EIF2B1-4	chr12:124200047-124200113	NONHSAT031603
7	lnc-CCDC92-1	chr12:124427894-124428040	NONHSAT031610
8	lnc-DNAH10OS-3	chr12:124445264-124445791	ENSG00000270130.1
9	lnc-EIF2B1-1	chr12:124066709-124068936	NONHSAT031599
10	lnc-CCDC92-1	chr12:124427291-124427332	NONHSAT031610
11	lnc-DNAH10OS-2	chr12:124420169-124420753	ENSG00000270005.1
12	lnc-EIF2B1-5	chr12:124205793-124206186	NONHSAT031604
13	lnc-EIF2B1-1	chr12:124068148-124068245	NR_110049
14	lnc-EIF2B1-2	chr12:124062808-124062838	XLOC_010228
15	lnc-EIF2B1-4	chr12:124198586-124199029	NONHSAT031603
16	lnc-CCDC92-1	chr12:124428819-124428916	NONHSAT031610
17	lnc-EIF2B1-1	chr12:124068759-124068874	NR_110049
18	lnc-EIF2B1-1	chr12:124068148-124068245	XLOC_010229
19	lnc-EIF2B1-3	chr12:124192789-124192933	ENSG00000255839
20	lnc-DNAH10OS-4	chr12:124447102-124447364	ENSG00000270048.1
21	lnc-CCDC92-1	chr12:124408539-124408835	NONHSAT031610
22	lnc-DNAH10OS-1	chr12:124410008-124410630	ENSG00000270028.1
23	lnc-EIF2B1-1	chr12:124068759-124068874	XLOC_010229
24	lnc-DNAH10OS-5	chr12:124450624-124451176	ENSG00000269997.1
25	lnc-EIF2B1-1	chr12:124065613-124067714	XLOC_010229
26	lnc-SNRNP35-2	chr12:123994929-123996488	NONHSAT031595
27	lnc-EIF2B1-1	chr12:124065632-124067714	NR_110049
28	lnc-DNAH10OS-8	chr12:124456004-124456261	ENSG00000270095.1
29	lnc-EIF2B1-2	chr12:124060445-124060779	XLOC_010228

miRNA name	Chromosome Location	mirBase accession
hsa-miR-3908	chr12:124020960-124020981	MIMAT0018182

(count:5 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	TMED2	hsa-miR-7-5p	chr12:124081277-124081289
2	EIF2B1	hsa-miR-26b-5p	chr12:124105615-124105637
3	EIF2B1	hsa-miR-30a-5p	chr12:124105656-124105677
4	EIF2B1	hsa-miR-30b-5p	chr12:124105656-124105681
5	TMED2	hsa-miR-30a-5p	chr12:124081299-124081320

Variant related genes	Relation type
ENSG00000270005	TF binding region
TMED2	TF binding region
ENSG00000206897	TF binding region
FAM101A	TF binding region
ENSG00000270130	TF binding region
ENSG00000255839	TF binding region
MIR3908	TF binding region
ZNF664	TF binding region
ENSG00000270095	TF binding region
ENSG00000270048	TF binding region
CCDC92	TF binding region
EIF2B1	TF binding region
ENSG00000269938	TF binding region
GTF2H3	TF binding region
DNAH10	TF binding region
ATP6V0A2	TF binding region
RPL27P12	TF binding region
RILPL1	TF binding region
DNAH10OS	TF binding region
ENSG00000270028	TF binding region
ENSG00000247373	TF binding region
ENSG00000269997	TF binding region
ENSG00000270061	TF binding region
DDX55	TF binding region
TCTN2	TF binding region
ENSG00000270005	CpG island
TMED2	CpG island
ENSG00000206897	CpG island
FAM101A	CpG island
ENSG00000270130	CpG island
ENSG00000255839	CpG island
MIR3908	CpG island
ZNF664	CpG island
ENSG00000270095	CpG island
ENSG00000270048	CpG island
CCDC92	CpG island
EIF2B1	CpG island
ENSG00000269938	CpG island
GTF2H3	CpG island
DNAH10	CpG island
ATP6V0A2	CpG island
RPL27P12	CpG island
RILPL1	CpG island
DNAH10OS	CpG island
ENSG00000270028	CpG island
ENSG00000247373	CpG island
ENSG00000269997	CpG island
ENSG00000270061	CpG island
DDX55	CpG island
TCTN2	CpG island
ENSG00000168298	chromatin interactions
ENSG00000272854	chromatin interactions
ENSG00000170412	chromatin interactions
ENSG00000269938	chromatin interactions
ENSG00000154920	chromatin interactions
ENSG00000183955	chromatin interactions
ENSG00000039650	chromatin interactions
ENSG00000206897	chromatin interactions
ENSG00000188026	chromatin interactions
ENSG00000269997	chromatin interactions
ENSG00000185344	chromatin interactions
ENSG00000197653	chromatin interactions
ENSG00000168778	chromatin interactions
ENSG00000270130	chromatin interactions
ENSG00000100650	chromatin interactions
ENSG00000075790	chromatin interactions
ENSG00000111364	chromatin interactions
ENSG00000270028	chromatin interactions
ENSG00000270095	chromatin interactions
ENSG00000179912	chromatin interactions
ENSG00000099804	chromatin interactions
ENSG00000110958	chromatin interactions
ENSG00000239215	chromatin interactions
ENSG00000247373	chromatin interactions
ENSG00000111358	chromatin interactions
ENSG00000256092	chromatin interactions
ENSG00000139697	chromatin interactions
ENSG00000111361	chromatin interactions
ENSG00000085433	chromatin interactions
ENSG00000173838	chromatin interactions
ENSG00000145014	chromatin interactions
ENSG00000119242	chromatin interactions
ENSG00000086598	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000163125	chromatin interactions
ENSG00000108264	chromatin interactions
ENSG00000111328	chromatin interactions
ENSG00000135446	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000270048	chromatin interactions
ENSG00000150977	chromatin interactions
ENSG00000266655	chromatin interactions
ENSG00000250091	chromatin interactions
ENSG00000267100	chromatin interactions
ENSG00000141543	chromatin interactions
ENSG00000184209	chromatin interactions
ENSG00000270061	chromatin interactions
ENSG00000136450	chromatin interactions
ENSG00000108813	chromatin interactions
ENSG00000184575	chromatin interactions
ENSG00000270113	chromatin interactions
ENSG00000179195	chromatin interactions
ENSG00000255839	chromatin interactions
ENSG00000270005	chromatin interactions
ENSG00000146834	chromatin interactions
ENSG00000078487	chromatin interactions
ENSG00000108826	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000132305	chromatin interactions
ENSG00000178882	chromatin interactions
ENSG00000139266	chromatin interactions
CD44	miRNA target sites
CD2AP	miRNA target sites

Extended variants
information (count: 18347 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:18347 , 50 per page) page: 1 2 3 4 5 6 7 ... 367

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs573966547	chr12:123994372-123994373	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs191205644	chr12:123994433-123994434	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs77715764	chr12:123994466-123994467	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs374497536	chr12:123994491-123994492	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs181557021	chr12:123994500-123994501	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs186218921	chr12:123994508-123994509	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs147830385	chr12:123994521-123994522	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs531489985	chr12:123994564-123994565	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs549831827	chr12:123994597-123994598	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs190940752	chr12:123994616-123994617	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs535129995	chr12:123994641-123994642	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs9330650	chr12:123994669-123994670	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs565819838	chr12:123994676-123994677	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs539546619	chr12:123994686-123994687	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs141366411	chr12:123994717-123994718	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs576582658	chr12:123994765-123994766	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs537616638	chr12:123994800-123994801	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs555821165	chr12:123994806-123994807	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs574253809	chr12:123994811-123994812	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs543014094	chr12:123994830-123994831	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs541115608	chr12:123994837-123994838	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs145290967	chr12:123994867-123994868	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs577577171	chr12:123994903-123994904	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563988101	chr12:123994912-123994913	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs141388319	chr12:123994913-123994914	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545105376	chr12:123994917-123994918	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200328268	chr12:123994931-123994932	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs201432805	chr12:123994955-123994956	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
29	rs199744154	chr12:123994979-123994980	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
30	rs563415959	chr12:123994988-123994989	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
31	rs531437800	chr12:123994990-123994991	Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
32	rs543579589	chr12:123995020-123995021	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
33	rs9697536	chr12:123995023-123995024	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
34	rs368080381	chr12:123995039-123995040	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
35	rs573473345	chr12:123995049-123995050	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
36	rs200826753	chr12:123995084-123995085	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
37	rs370874580	chr12:123995092-123995093	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
38	rs547673362	chr12:123995136-123995137	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
39	rs111173991	chr12:123995171-123995172	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
40	rs527348097	chr12:123995226-123995227	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
41	rs201250336	chr12:123995229-123995230	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
42	rs111219715	chr12:123995264-123995265	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
43	rs565681633	chr12:123995301-123995302	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
44	rs533049350	chr12:123995345-123995346	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
45	rs199615297	chr12:123995373-123995374	Weak transcription Strong transcription ZNF genes & repeats	lncRNA	n/a	Overlapped CNVs	n/a
46	rs532928857	chr12:123995435-123995436	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs533089329	chr12:123995439-123995440	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs150135730	chr12:123995465-123995466	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs140185221	chr12:123995475-123995476	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs534003559	chr12:123995504-123995505	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Cancer	16751803	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Wilms tumour	21544195	CNVD
Ovarian cancer	21720365	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16397240	CNVD
Breast cancer	17133270	CNVD
Breast cancer	17603634	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Cryptorchidism	21048976	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Neuroblastoma	18923191	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21806811	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Beckwith-Wiedemann syndrome	20648245	CNVD
Developmental delay	21457577	CNVD
dysmorphic	21457577	CNVD
Ovine squamous-cell carcinoma	17599052	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chordoma	18071362	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pancreatic cancer	17952125	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:12258 , 50 per page) page: 1 2 3 4 5 6 7 ... 246

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123944600-123995600	Weak transcription	Hela-S3	cervix
2	chr12:123944600-124012200	Strong transcription	Fetal Stomach	stomach
3	chr12:123950800-124007600	Weak transcription	Colonic Mucosa	Colon
4	chr12:123956800-123995400	Weak transcription	Fetal Brain Male	brain
5	chr12:123957400-123995400	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:123957400-123995400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:123957600-123995400	Weak transcription	Pancreas	Pancrea
8	chr12:123957600-124003800	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr12:123960000-123995400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:123961600-123995800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:123968800-123995400	Weak transcription	NH-A	brain
12	chr12:123970000-124016400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr12:123973600-123995400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:123974600-123995400	Weak transcription	Dnd41	blood
15	chr12:123979600-123994800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:123979600-124000600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr12:123980800-123995400	Weak transcription	Primary T cells from cord blood	blood
18	chr12:123981800-123995400	Weak transcription	NHLF	lung
19	chr12:123981800-124004000	Weak transcription	Psoas Muscle	Psoas
20	chr12:123982600-123994800	Weak transcription	K562	blood
21	chr12:123982600-124001200	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr12:123983000-123994600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:123983000-123995200	Weak transcription	Fetal Kidney	kidney
24	chr12:123983000-123995400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:123983200-123994400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:123983400-123994800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr12:123983400-123994800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr12:123983400-123995400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr12:123983400-123997200	Weak transcription	Liver	Liver
30	chr12:123983600-123995600	Weak transcription	NHDF-Ad	bronchial
31	chr12:123984000-123994400	Weak transcription	Ovary	ovary
32	chr12:123984000-123995400	Weak transcription	HSMM	muscle
33	chr12:123984000-123995600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr12:123984200-123994400	Weak transcription	Fetal Intestine Large	intestine
35	chr12:123984200-123995200	Weak transcription	Gastric	stomach
36	chr12:123984400-123994800	Weak transcription	HepG2	liver
37	chr12:123987400-123995400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:123989200-123994800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:123991400-123994400	Weak transcription	Right Ventricle	heart
40	chr12:123991400-123994800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:123991600-123995200	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:123991600-123995400	Weak transcription	Colon Smooth Muscle	Colon
43	chr12:123991800-123994400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr12:123991800-123994800	Weak transcription	Fetal Lung	lung
45	chr12:123991800-123995200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:123991800-123995400	Weak transcription	Aorta	Aorta
47	chr12:123991800-123995400	Weak transcription	HSMMtube	muscle
48	chr12:123991800-123995600	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr12:123992000-123994400	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr12:123992000-123994800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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