Variant report

Variant	nsv1040534
Chromosome Location	chr12:106528394-106619175
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1732)
CpG islands
(count:1468)
Chromatin interactive
region (count:92)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1732 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:106568598-106568982	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:106589413-106589807	HepG2	liver:	n/a	n/a
3	ATF2	chr12:106529914-106530340	H1-hESC	embryonic stem cell:	n/a	n/a
4	ATF2	chr12:106617760-106618182	H1-hESC	embryonic stem cell:	n/a	n/a
5	ATF2	chr12:106529842-106530327	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF3	chr12:106529897-106530402	A549	lung:	n/a	n/a
7	BACH1	chr12:106532463-106533433	H1-hESC	embryonic stem cell:	n/a	n/a
8	BCL3	chr12:106529570-106530632	A549	lung:	n/a	n/a
9	BCL3	chr12:106533186-106533937	A549	lung:	n/a	chr12:106533303-106533316 chr12:106533292-106533305
10	BHLHE40	chr12:106617898-106618243	K562	blood:	n/a	chr12:106618051-106618067
11	BHLHE40	chr12:106617912-106618237	HepG2	liver:	n/a	chr12:106618051-106618067
12	BHLHE40	chr12:106617899-106618222	GM12878	blood:	n/a	chr12:106618051-106618067
13	BRCA1	chr12:106528461-106528487	Hela-S3	cervix:	n/a	n/a
14	BRCA1	chr12:106542924-106543317	Hela-S3	cervix:	n/a	n/a
15	BRCA1	chr12:106529969-106530299	Hela-S3	cervix:	n/a	n/a
16	BRCA1	chr12:106533251-106533551	Hela-S3	cervix:	n/a	n/a
17	CBX3	chr12:106611435-106611787	K562	blood:	n/a	n/a
18	CBX3	chr12:106611434-106611861	K562	blood:	n/a	n/a
19	CBX3	chr12:106611450-106611945	HCT-116	colon:	n/a	n/a
20	CEBPB	chr12:106598143-106598395	HepG2	liver:	n/a	chr12:106598285-106598296
21	CEBPB	chr12:106592031-106592325	HepG2	liver:	n/a	chr12:106592168-106592179 chr12:106592170-106592181 chr12:106592168-106592181
22	CEBPB	chr12:106583138-106583463	K562	blood:	n/a	n/a
23	CEBPB	chr12:106528383-106528742	HepG2	liver:	n/a	chr12:106528564-106528573 chr12:106528562-106528573 chr12:106528563-106528574 chr12:106528562-106528575
24	CEBPB	chr12:106555288-106555645	HepG2	liver:	n/a	chr12:106555466-106555477
25	CEBPB	chr12:106528386-106528749	A549	lung:	n/a	chr12:106528564-106528573 chr12:106528562-106528573 chr12:106528563-106528574 chr12:106528562-106528575
26	CEBPB	chr12:106589417-106589769	IMR90	lung:	n/a	chr12:106589579-106589590
27	CEBPB	chr12:106589529-106589732	K562	blood:	n/a	chr12:106589579-106589590
28	CEBPB	chr12:106588640-106588734	HepG2	liver:	n/a	chr12:106588667-106588678
29	CEBPB	chr12:106555357-106555613	Hela-S3	cervix:	n/a	chr12:106555466-106555477
30	CEBPB	chr12:106589562-106589617	Hela-S3	cervix:	n/a	chr12:106589579-106589590
31	CEBPB	chr12:106589507-106589694	HepG2	liver:	n/a	chr12:106589579-106589590
32	CEBPB	chr12:106528261-106528790	A549	lung:	n/a	chr12:106528564-106528573 chr12:106528562-106528573 chr12:106528563-106528574 chr12:106528562-106528575
33	CEBPB	chr12:106592043-106592320	A549	lung:	n/a	chr12:106592168-106592179 chr12:106592170-106592181 chr12:106592168-106592181
34	CEBPB	chr12:106583145-106583435	HepG2	liver:	n/a	n/a
35	CEBPB	chr12:106611398-106611534	K562	blood:	n/a	n/a
36	CEBPB	chr12:106589361-106589752	ECC-1	luminal epithelium:	n/a	chr12:106589579-106589590
37	CEBPB	chr12:106592014-106592308	IMR90	lung:	n/a	chr12:106592168-106592179 chr12:106592170-106592181 chr12:106592168-106592181
38	CEBPB	chr12:106612964-106613158	A549	lung:	n/a	chr12:106613037-106613048
39	CEBPB	chr12:106528318-106528681	MCF-7	breast:	n/a	chr12:106528564-106528573 chr12:106528562-106528573 chr12:106528563-106528574 chr12:106528562-106528575
40	CEBPB	chr12:106528368-106528742	IMR90	lung:	n/a	chr12:106528564-106528573 chr12:106528562-106528573 chr12:106528563-106528574 chr12:106528562-106528575
41	CEBPB	chr12:106528380-106528752	A549	lung:	n/a	chr12:106528564-106528573 chr12:106528562-106528573 chr12:106528563-106528574 chr12:106528562-106528575
42	CEBPB	chr12:106555302-106555643	K562	blood:	n/a	chr12:106555466-106555477
43	CEBPB	chr12:106580994-106581231	HepG2	liver:	n/a	n/a
44	CEBPB	chr12:106611433-106611678	A549	lung:	n/a	n/a
45	CEBPB	chr12:106589339-106589838	HepG2	liver:	n/a	chr12:106589579-106589590
46	CEBPB	chr12:106539223-106540202	Hela-S3	cervix:	n/a	n/a
47	CEBPB	chr12:106612861-106613185	HepG2	liver:	n/a	chr12:106613037-106613048
48	CEBPB	chr12:106589452-106589804	ECC-1	luminal epithelium:	n/a	chr12:106589579-106589590
49	CEBPB	chr12:106555292-106555633	A549	lung:	n/a	chr12:106555466-106555477
50	CEBPB	chr12:106555315-106555641	IMR90	lung:	n/a	chr12:106555466-106555477

(count:1468 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:106564582-106564632	HEEpiC	esophagus:	n/a
2	chr12:106532311-106532361	AG04449	skin:	fetal
3	chr12:106532311-106532361	AG09309	skin:	n/a
4	chr12:106533863-106533913	HL-60	blood:	n/a
5	chr12:106564582-106564632	HEEpiC	esophagus:	n/a
6	chr12:106532311-106532361	AG04449	skin:	fetal
7	chr12:106532311-106532361	AG09309	skin:	n/a
8	chr12:106533863-106533913	HL-60	blood:	n/a
9	chr12:106532701-106532751	HEEpiC	esophagus:	n/a
10	chr12:106536151-106536201	Caco-2	colon:	n/a
11	chr12:106533903-106533953	SAEC	small airway:	n/a
12	chr12:106533867-106533917	GM12892	blood:	n/a
13	chr12:106533898-106533948	HAEpiC	amniotic membrane:	n/a
14	chr12:106533046-106533096	HUVEC	blood vessel:	n/a
15	chr12:106534620-106534670	HRPEpiC	eye:	n/a
16	chr12:106539009-106539059	PrEC	prostate:	n/a
17	chr12:106536151-106536201	RPTEC	kidney:	n/a
18	chr12:106532311-106532361	GM19239	blood:	n/a
19	chr12:106532311-106532361	IMR90	lung:	fetal
20	chr12:106532311-106532361	HEEpiC	esophagus:	n/a
21	chr12:106530317-106530367	IMR90	lung:	fetal
22	chr12:106533375-106533425	HCM	heart:	n/a
23	chr12:106533667-106533717	GM06990	blood:	n/a
24	chr12:106532701-106532751	HUVEC	blood vessel:	n/a
25	chr12:106533898-106533948	HRE	kidney:	n/a
26	chr12:106539009-106539059	ECC-1	luminal epithelium:	n/a
27	chr12:106573195-106573245	GM06990	blood:	n/a
28	chr12:106533375-106533425	Hepatocyte	liver:	n/a
29	chr12:106532491-106532541	HL-60	blood:	n/a
30	chr12:106530091-106530141	Hela-S3	cervix:	n/a
31	chr12:106530091-106530141	ECC-1	luminal epithelium:	n/a
32	chr12:106533840-106533890	Hepatocyte	liver:	n/a
33	chr12:106534217-106534267	Jurkat	blood:	n/a
34	chr12:106532491-106532541	HMEC	breast:	n/a
35	chr12:106532311-106532361	HPAEpiC	pulmonary alveolar:	n/a
36	chr12:106530317-106530367	HCF	heart:	n/a
37	chr12:106532212-106532262	HMEC	breast:	n/a
38	chr12:106533840-106533890	AG09319	gingival:	n/a
39	chr12:106573195-106573245	HRCEpiC	kidney:	n/a
40	chr12:106533903-106533953	SK-N-SH_RA	brain:	n/a
41	chr12:106564989-106565039	PFSK-1	brain:	n/a
42	chr12:106534217-106534267	SAEC	small airway:	n/a
43	chr12:106532701-106532751	GM06990	blood:	n/a
44	chr12:106564989-106565039	HRPEpiC	eye:	n/a
45	chr12:106564582-106564632	IMR90	lung:	fetal
46	chr12:106539009-106539059	HepG2	liver:	n/a
47	chr12:106551225-106551275	Caco-2	colon:	n/a
48	chr12:106533898-106533948	HL-60	blood:	n/a
49	chr12:106533840-106533890	HepG2	liver:	n/a
50	chr12:106536151-106536201	AG10803	skin:	n/a

(count:92 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr12:106574764..106576308-chr12:106581500..106583713,2	K562	blood:
2	chr12:106425864..106426522-chr12:106529759..106530547,2	MCF-7	breast:
3	chr12:106531262..106533679-chr12:106543496..106547207,3	MCF-7	breast:
4	chr12:106575660..106576660-chr21:9826514..9827290,4	MCF-7	breast:
5	chr12:106439470..106441624-chr12:106531881..106533487,2	MCF-7	breast:
6	chr12:105814135..105815113-chr12:106599177..106599895,3	MCF-7	breast:
7	chr12:106532208..106535083-chr12:106547567..106550451,3	MCF-7	breast:
8	chr12:106546357..106548051-chr12:106548449..106549969,2	MCF-7	breast:
9	chr12:106099637..106100474-chr12:106529654..106530671,3	MCF-7	breast:
10	chr12:106537744..106539667-chr12:106540845..106542728,2	MCF-7	breast:
11	chr12:106531856..106533981-chr12:106544553..106547485,2	MCF-7	breast:
12	chr12:106389362..106391020-chr12:106528296..106530507,2	MCF-7	breast:
13	chr12:106533049..106533686-chr19:42721299..42721921,2	HCT-116	colon:
14	chr12:106166809..106169748-chr12:106534661..106536595,2	MCF-7	breast:
15	chr12:106617619..106621663-chr12:106750007..106752631,4	MCF-7	breast:
16	chr12:106581102..106582992-chr12:106584022..106586384,2	MCF-7	breast:
17	chr12:106322581..106324128-chr12:106531603..106533720,2	MCF-7	breast:
18	chr12:105814363..105815481-chr12:106529622..106530636,3	MCF-7	breast:
19	chr12:106546357..106548051-chr12:106548449..106549969,2	MCF-7	breast:
20	chr12:106197861..106199984-chr12:106529644..106531234,2	MCF-7	breast:
21	chr12:106164560..106166544-chr12:106529852..106531635,2	MCF-7	breast:
22	chr12:106425879..106426591-chr12:106529828..106530360,2	MCF-7	breast:
23	chr12:106574640..106576141-chr21:9825775..9827291,2	MCF-7	breast:
24	chr12:106426879..106427562-chr12:106529618..106530330,2	MCF-7	breast:
25	chr12:106616785..106619757-chr12:106628880..106631149,2	MCF-7	breast:
26	chr12:105814165..105815073-chr12:106529681..106530596,8	K562	blood:
27	chr12:106544488..106546917-chr12:106548576..106550416,3	K562	blood:
28	chr12:106542540..106543267-chr12:106599217..106599805,3	MCF-7	breast:
29	chr12:106492655..106494743-chr12:106531247..106533400,2	MCF-7	breast:
30	chr12:106618176..106623447-chr12:106639085..106644031,7	MCF-7	breast:
31	chr12:106208126..106209890-chr12:106535652..106537483,2	MCF-7	breast:
32	chr12:106531533..106535020-chr12:106751427..106753733,3	MCF-7	breast:
33	chr12:105814170..105815043-chr12:106599072..106599675,2	MCF-7	breast:
34	chr12:106617980..106623111-chr12:106673260..106676714,5	MCF-7	breast:
35	chr12:106530538..106533489-chr21:45720993..45722584,2	MCF-7	breast:
36	chr12:105878812..105881754-chr12:106532109..106533760,2	MCF-7	breast:
37	chr12:106529953..106533456-chr12:106589507..106592473,3	MCF-7	breast:
38	chr12:105814145..105815125-chr12:106542611..106544003,4	MCF-7	breast:
39	chr12:106099358..106100248-chr12:106529662..106530556,3	K562	blood:
40	chr12:106532785..106534884-chr12:106750299..106753050,2	MCF-7	breast:
41	chr12:106529633..106530327-chr12:106598845..106599811,3	MCF-7	breast:
42	chr12:106610256..106614349-chr12:106616727..106618978,3	K562	blood:
43	chr12:106256670..106259118-chr12:106531259..106533128,2	MCF-7	breast:
44	chr12:106576026..106577641-chr12:106579381..106581116,2	K562	blood:
45	chr12:105813159..105815019-chr12:106530555..106533790,3	MCF-7	breast:
46	chr12:106531764..106533965-chr12:106611997..106613542,2	MCF-7	breast:
47	chr12:106529676..106534447-chr12:106536082..106538981,4	K562	blood:
48	chr12:106534451..106537070-chr12:106581248..106583700,2	MCF-7	breast:
49	chr12:106550656..106553452-chr12:106569795..106572554,2	MCF-7	breast:
50	chr12:106606020..106608832-chr12:106609375..106611582,2	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TCP11L2-4	chr12:106533813-106535694	NONHSAT030466
2	lnc-TCP11L2-4	chr12:106535800-106535939	NONHSAT030466
3	lnc-TCP11L2-4	chr12:106536087-106537368	NONHSAT030466

No data

Variant related genes	Relation type
NUAK1	TF binding region
ENSG00000257611	TF binding region
NUAK1	CpG island
ENSG00000257611	CpG island
ENSG00000264462	chromatin interactions
ENSG00000136026	chromatin interactions
ENSG00000258355	chromatin interactions
ENSG00000139318	chromatin interactions
ENSG00000074590	chromatin interactions
ENSG00000160570	chromatin interactions
ENSG00000013503	chromatin interactions
ENSG00000264063	chromatin interactions

Extended variants
information (count: 3040 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:3040 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116003725	chr12:106528400-106528401	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs529617009	chr12:106528416-106528417	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs2434081	chr12:106528454-106528455	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
4	rs569501157	chr12:106528479-106528480	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs7302098	chr12:106528483-106528484	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs534095235	chr12:106528508-106528509	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs535438678	chr12:106528520-106528521	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs376035796	chr12:106528522-106528523	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs73193874	chr12:106528526-106528527	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs111323006	chr12:106528556-106528557	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs180822966	chr12:106528563-106528564	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs2556509	chr12:106528606-106528607	Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs533862896	chr12:106528653-106528654	Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs577038069	chr12:106528655-106528656	Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs374578394	chr12:106528672-106528673	Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs546152479	chr12:106528716-106528717	Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs556819709	chr12:106528728-106528729	Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs148288016	chr12:106528736-106528737	Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs542250935	chr12:106528797-106528798	Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs141469016	chr12:106528838-106528839	Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs527817278	chr12:106528895-106528896	Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs11112878	chr12:106528952-106528953	Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs564241719	chr12:106528970-106528971	Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs147483198	chr12:106529025-106529026	Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs532501731	chr12:106529028-106529029	Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549765435	chr12:106529085-106529086	Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs77726384	chr12:106529132-106529133	Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs186271655	chr12:106529138-106529139	Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs538048883	chr12:106529199-106529200	Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs140128666	chr12:106529215-106529216	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs145540760	chr12:106529271-106529272	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs191787906	chr12:106529338-106529339	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs547087115	chr12:106529382-106529383	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs534379709	chr12:106529430-106529431	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
35	rs183268187	chr12:106529461-106529462	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
36	rs370926106	chr12:106529536-106529537	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
37	rs147334157	chr12:106529547-106529548	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
38	rs552243267	chr12:106529556-106529557	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	Overlapped CNVs	n/a
39	rs35710706	chr12:106529559-106529560	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs556571748	chr12:106529597-106529598	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs576721651	chr12:106529607-106529608	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs111586228	chr12:106529625-106529626	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs114014836	chr12:106529632-106529633	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs2556510	chr12:106529666-106529667	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs371603118	chr12:106529687-106529688	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs541512431	chr12:106529708-106529709	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs564578269	chr12:106529756-106529757	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs145466707	chr12:106529782-106529783	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs543646783	chr12:106529790-106529791	Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs78287103	chr12:106529812-106529813	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
Autism	22495311	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
Endometrioid adenocarcinoma	16974079	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	21390271	CNVD
Cancer	20164919	CNVD
Breast cancer	22032731	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
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17603634	CNVD
Breast cancer	16397240	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	17133270	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Neurocytoma	17123091	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21364760	CNVD
Multiple myeloma	16616336	CNVD
Myelofibrosis	22110671	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:1613 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106504800-106529000	Enhancers	Left Ventricle	heart
2	chr12:106504800-106532400	Weak transcription	Spleen	Spleen
3	chr12:106509800-106531400	Weak transcription	Gastric	stomach
4	chr12:106513800-106529000	Enhancers	Fetal Heart	heart
5	chr12:106518200-106529000	Enhancers	Right Ventricle	heart
6	chr12:106519800-106529000	Weak transcription	Fetal Kidney	kidney
7	chr12:106520600-106530200	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr12:106521600-106528800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr12:106523000-106529000	Weak transcription	Brain Germinal Matrix	brain
10	chr12:106524000-106529800	Enhancers	HUES64 Cell Line	embryonic stem cell
11	chr12:106524200-106530200	Enhancers	H1 Cell Line	embryonic stem cell
12	chr12:106524400-106529000	Flanking Active TSS	A549	lung
13	chr12:106524400-106530600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:106524600-106528800	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr12:106524600-106529600	Enhancers	NHLF	lung
16	chr12:106524600-106529800	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr12:106524600-106529800	Enhancers	Fetal Muscle Leg	muscle
18	chr12:106524800-106528800	Enhancers	NH-A	brain
19	chr12:106525000-106529000	Enhancers	Brain Substantia Nigra	brain
20	chr12:106525000-106529800	Enhancers	Fetal Lung	lung
21	chr12:106525200-106528400	Enhancers	Brain Angular Gyrus	brain
22	chr12:106525200-106529000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:106525200-106529800	Enhancers	Liver	Liver
24	chr12:106525200-106530200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr12:106525400-106528400	Enhancers	Right Atrium	heart
26	chr12:106525400-106528600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr12:106525400-106529000	Enhancers	Brain Anterior Caudate	brain
28	chr12:106525400-106529000	Genic enhancers	HSMM	muscle
29	chr12:106525400-106529400	Enhancers	NHDF-Ad	bronchial
30	chr12:106525400-106529600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:106525600-106528600	Enhancers	Pancreas	Pancrea
32	chr12:106525600-106528800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:106525600-106529000	Enhancers	HUVEC	blood vessel
34	chr12:106525600-106529400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr12:106525600-106529600	Enhancers	NHEK	skin
36	chr12:106525600-106529800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:106525600-106530200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr12:106525600-106530200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:106525600-106530200	Enhancers	H9 Cell Line	embryonic stem cell
40	chr12:106525800-106528800	Enhancers	Aorta	Aorta
41	chr12:106525800-106529000	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr12:106525800-106529800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr12:106525800-106530400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
44	chr12:106526000-106529000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr12:106526000-106529000	Enhancers	Brain Cingulate Gyrus	brain
46	chr12:106526200-106529000	Enhancers	Psoas Muscle	Psoas
47	chr12:106526200-106529600	Enhancers	HMEC	breast
48	chr12:106526200-106529800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr12:106526400-106529200	Enhancers	Fetal Brain Male	brain
50	chr12:106526400-106529200	Enhancers	Osteobl	bone

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