Variant report

Variant	nsv899579
Chromosome Location	chr12:123843017-123901480
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3098)
CpG islands
(count:2441)
Chromatin interactive
region (count:155)
LncRNA
region (count:12)
Mature miRNA
region (count: 1)
miRNA target
sites (count:9)

(count:3098 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:123848203-123848394	HepG2	liver:	n/a	n/a
2	ARID3A	chr12:123859161-123859380	K562	blood:	n/a	n/a
3	ARID3A	chr12:123849240-123849379	HepG2	liver:	n/a	n/a
4	ARID3A	chr12:123857403-123857446	K562	blood:	n/a	n/a
5	ARID3A	chr12:123868155-123868705	K562	blood:	n/a	n/a
6	ARID3A	chr12:123850091-123850557	K562	blood:	n/a	n/a
7	ARID3A	chr12:123869109-123869429	HepG2	liver:	n/a	n/a
8	ARID3A	chr12:123868068-123868703	HepG2	liver:	n/a	n/a
9	ARID3A	chr12:123872141-123873037	K562	blood:	n/a	n/a
10	ARID3A	chr12:123849586-123850564	HepG2	liver:	n/a	n/a
11	ATF1	chr12:123870215-123870528	K562	blood:	n/a	n/a
12	ATF1	chr12:123858660-123858743	K562	blood:	n/a	n/a
13	ATF1	chr12:123859107-123859494	K562	blood:	n/a	n/a
14	ATF1	chr12:123868169-123868701	K562	blood:	n/a	n/a
15	ATF1	chr12:123872000-123873150	K562	blood:	n/a	n/a
16	ATF2	chr12:123872859-123873307	GM12878	blood:	n/a	n/a
17	ATF2	chr12:123849410-123850683	GM12878	blood:	n/a	n/a
18	ATF2	chr12:123849617-123850501	H1-hESC	embryonic stem cell:	n/a	n/a
19	ATF2	chr12:123868036-123868738	GM12878	blood:	n/a	n/a
20	ATF2	chr12:123849458-123850671	GM12878	blood:	n/a	n/a
21	ATF2	chr12:123886430-123886993	H1-hESC	embryonic stem cell:	n/a	n/a
22	ATF3	chr12:123849287-123849552	HepG2	liver:	n/a	chr12:123849384-123849398
23	ATF3	chr12:123849362-123850013	H1-hESC	embryonic stem cell:	n/a	chr12:123849752-123849761 chr12:123849702-123849710 chr12:123849384-123849398
24	ATF3	chr12:123849301-123849597	K562	blood:	n/a	chr12:123849384-123849398
25	ATF3	chr12:123870254-123870529	K562	blood:	n/a	n/a
26	ATF3	chr12:123849382-123849568	GM12878	blood:	n/a	chr12:123849384-123849398
27	ATF3	chr12:123869504-123869922	K562	blood:	n/a	chr12:123869745-123869755
28	ATF3	chr12:123849673-123850025	H1-hESC	embryonic stem cell:	n/a	chr12:123849752-123849761 chr12:123849702-123849710
29	ATF3	chr12:123849656-123850574	A549	lung:	n/a	chr12:123849752-123849761 chr12:123849702-123849710
30	ATF3	chr12:123849241-123849613	H1-hESC	embryonic stem cell:	n/a	chr12:123849384-123849398
31	ATF3	chr12:123859053-123859454	K562	blood:	n/a	n/a
32	ATF3	chr12:123849629-123849966	K562	blood:	n/a	chr12:123849752-123849761 chr12:123849702-123849710
33	ATF3	chr12:123849261-123850130	GM12878	blood:	n/a	chr12:123849752-123849761 chr12:123849702-123849710 chr12:123849384-123849398
34	BACH1	chr12:123886483-123886967	H1-hESC	embryonic stem cell:	n/a	n/a
35	BACH1	chr12:123848777-123848849	H1-hESC	embryonic stem cell:	n/a	n/a
36	BACH1	chr12:123868886-123869420	H1-hESC	embryonic stem cell:	n/a	n/a
37	BACH1	chr12:123867130-123867332	K562	blood:	n/a	n/a
38	BACH1	chr12:123849953-123850535	K562	blood:	n/a	n/a
39	BACH1	chr12:123872212-123873052	K562	blood:	n/a	n/a
40	BACH1	chr12:123869332-123869397	K562	blood:	n/a	n/a
41	BATF	chr12:123849702-123850605	GM12878	blood:	n/a	n/a
42	BATF	chr12:123850101-123850507	GM12878	blood:	n/a	n/a
43	BCL11A	chr12:123886573-123886798	H1-hESC	embryonic stem cell:	n/a	n/a
44	BCL11A	chr12:123850023-123850543	GM12878	blood:	n/a	chr12:123850263-123850272
45	BCL11A	chr12:123850012-123850494	GM12878	blood:	n/a	chr12:123850263-123850272
46	BCL3	chr12:123849967-123850494	GM12878	blood:	n/a	chr12:123850263-123850272
47	BCL3	chr12:123868933-123869471	A549	lung:	n/a	chr12:123869288-123869301 chr12:123869100-123869109
48	BCL3	chr12:123849056-123850598	A549	lung:	n/a	chr12:123850263-123850272 chr12:123849273-123849281 chr12:123849149-123849162
49	BCL3	chr12:123868005-123868486	A549	lung:	n/a	n/a
50	BCL3	chr12:123847789-123848848	A549	lung:	n/a	chr12:123848680-123848693

(count:2441 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123869060-123869110	NB4	blood:	n/a
2	chr12:123869060-123869110	NB4	blood:	n/a
3	chr12:123868728-123868778	SKMC	muscle:	n/a
4	chr12:123852477-123852527	HL-60	blood:	n/a
5	chr12:123868625-123868675	HRE	kidney:	n/a
6	chr12:123868625-123868675	SKMC	muscle:	n/a
7	chr12:123869502-123869552	Hela-S3	cervix:	n/a
8	chr12:123871695-123871745	AG10803	skin:	n/a
9	chr12:123874707-123874757	Hepatocyte	liver:	n/a
10	chr12:123848917-123848967	HRCEpiC	kidney:	n/a
11	chr12:123874707-123874757	BE2_C	brain:	n/a
12	chr12:123868625-123868675	H1-hESC	embryonic stem cell:	embryo
13	chr12:123868268-123868318	SK-N-MC	brain:	n/a
14	chr12:123898032-123898082	IMR90	lung:	fetal
15	chr12:123900102-123900152	HL-60	blood:	n/a
16	chr12:123871695-123871745	K562	blood:	n/a
17	chr12:123871695-123871745	NH-A	brain:	n/a
18	chr12:123892621-123892671	HRE	kidney:	n/a
19	chr12:123892724-123892774	GM12892	blood:	n/a
20	chr12:123874243-123874293	AG10803	skin:	n/a
21	chr12:123868647-123868697	PANC-1	pancreas:	n/a
22	chr12:123850190-123850240	SAEC	small airway:	n/a
23	chr12:123849901-123849951	Hela-S3	cervix:	n/a
24	chr12:123847070-123847120	AoSMC	blood vessel:	n/a
25	chr12:123868310-123868360	NT2-D1	testis:	n/a
26	chr12:123856688-123856738	HCF	heart:	n/a
27	chr12:123868728-123868778	IMR90	lung:	fetal
28	chr12:123882945-123882995	AoSMC	blood vessel:	n/a
29	chr12:123874466-123874516	A549	lung:	n/a
30	chr12:123873524-123873574	HCPEpiC	choroid plexus:	n/a
31	chr12:123868268-123868318	NHBE	bronchial:	n/a
32	chr12:123871695-123871745	HEK293	kidney:	embryo
33	chr12:123850190-123850240	AG09319	gingival:	n/a
34	chr12:123868625-123868675	HepG2	liver:	n/a
35	chr12:123850127-123850177	HRE	kidney:	n/a
36	chr12:123856688-123856738	HUVEC	blood vessel:	n/a
37	chr12:123856688-123856738	SAEC	small airway:	n/a
38	chr12:123856688-123856738	LNCaP	prostate:	n/a
39	chr12:123868625-123868675	IMR90	lung:	fetal
40	chr12:123874466-123874516	MCF-7	breast:	n/a
41	chr12:123874466-123874516	BJ	skin:	n/a
42	chr12:123847070-123847120	SAEC	small airway:	n/a
43	chr12:123868665-123868715	NHDF-neo	bronchial:	n/a
44	chr12:123850127-123850177	RPTEC	kidney:	n/a
45	chr12:123874456-123874506	U87	brain:	n/a
46	chr12:123850190-123850240	PANC-1	pancreas:	n/a
47	chr12:123874707-123874757	HIPEpiC	eye:	n/a
48	chr12:123892621-123892671	K562	blood:	n/a
49	chr12:123850190-123850240	HCF	heart:	n/a
50	chr12:123868662-123868712	AoSMC	blood vessel:	n/a

(count:155 , 50 per page) page: 1 2 3 4

No.	Distal block	Cell Line	Cell type
1	chr12:123846590..123852305-chr12:123861449..123873718,39	K562	blood:
2	chr12:123866827..123868502-chr12:123879213..123881097,2	K562	blood:
3	chr12:123881479..123883562-chr12:123887318..123890802,3	MCF-7	breast:
4	chr12:123876805..123878620-chr12:123900011..123901536,2	MCF-7	breast:
5	chr12:123874611..123876401-chr12:123967217..123969868,2	K562	blood:
6	chr12:123755164..123758333-chr12:123868507..123873426,5	K562	blood:
7	chr12:123845329..123854937-chr12:123865496..123876607,58	K562	blood:
8	chr12:123878393..123880843-chr12:123888077..123890359,3	MCF-7	breast:
9	chr12:123846861..123850261-chr12:124066655..124071408,9	MCF-7	breast:
10	chr12:123754511..123756318-chr12:123868404..123870683,2	MCF-7	breast:
11	chr12:123849449..123850453-chr17:73774927..73776094,3	Hela-S3	cervix:
12	chr12:123829057..123831002-chr12:123845125..123847852,2	K562	blood:
13	chr12:123879767..123882314-chr12:123882742..123884960,2	MCF-7	breast:
14	chr12:123845591..123852236-chr12:123866929..123875043,19	MCF-7	breast:
15	chr12:123832815..123836496-chr12:123847723..123851604,4	MCF-7	breast:
16	chr12:123871220..123873431-chr12:123897619..123900288,2	K562	blood:
17	chr12:123872223..123875553-chr12:124085591..124088201,3	MCF-7	breast:
18	chr12:123849261..123849976-chr3:49058568..49059285,2	HCT-116	colon:
19	chr12:123852496..123855260-chr12:123856504..123859188,2	K562	blood:
20	chr12:123886695..123888203-chr12:123890596..123893402,2	K562	blood:
21	chr12:123889675..123891640-chr12:123898975..123901256,2	MCF-7	breast:
22	chr11:65266221..65266767-chr12:123849629..123850352,2	HCT-116	colon:
23	chr12:123849812..123851534-chr12:123858422..123861381,2	MCF-7	breast:
24	chr12:123872784..123874602-chr17:59484787..59486930,2	MCF-7	breast:
25	chr12:123754082..123756520-chr12:123873506..123875645,3	K562	blood:
26	chr12:123882533..123885309-chr12:123899138..123901801,2	MCF-7	breast:
27	chr12:123833002..123837136-chr12:123847313..123849620,3	MCF-7	breast:
28	chr12:123855413..123857446-chr12:123866791..123868451,2	K562	blood:
29	chr12:123889075..123892344-chr12:123892398..123894933,4	K562	blood:
30	chr12:123846822..123850749-chr12:123856444..123859181,3	MCF-7	breast:
31	chr12:123855413..123857472-chr12:123866745..123868291,2	K562	blood:
32	chr12:123752887..123754431-chr12:123868251..123870818,2	K562	blood:
33	chr12:123841609..123844454-chr12:123867561..123870497,3	K562	blood:
34	chr12:123886854..123888790-chr12:123919794..123921388,2	MCF-7	breast:
35	chr12:123883208..123885553-chr12:123941974..123944091,2	MCF-7	breast:
36	chr12:123889075..123892344-chr12:123892398..123894933,4	K562	blood:
37	chr12:123881479..123883562-chr12:123887318..123890802,3	MCF-7	breast:
38	chr12:123849675..123850516-chr2:122288105..122288668,2	NB4	blood:
39	chr12:123869164..123871955-chr12:123947898..123950371,2	K562	blood:
40	chr12:123876498..123879364-chr12:123956037..123958507,2	MCF-7	breast:
41	chr12:123848585..123850676-chr17:56707936..56709681,2	MCF-7	breast:
42	chr12:123841413..123843881-chr12:123847597..123850763,3	MCF-7	breast:
43	chr12:123882533..123885309-chr12:123899138..123901801,2	MCF-7	breast:
44	chr12:123847204..123849398-chr12:123874460..123876425,2	K562	blood:
45	chr12:123862454..123865045-chr12:123865570..123867094,2	K562	blood:
46	chr12:123880916..123883261-chr12:123885627..123887999,2	K562	blood:
47	chr12:123873193..123874940-chr12:123942406..123944140,2	K562	blood:
48	chr11:45825943..45826929-chr12:123873071..123873715,2	Hela-S3	cervix:
49	chr12:123871220..123873431-chr12:123897619..123900288,2	K562	blood:
50	chr12:123889675..123891640-chr12:123898975..123901256,2	MCF-7	breast:

(count:12 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SETD8-1	chr12:123849498-123849664	NONHSAT031583
2	lnc-SNRNP35-4	chr12:123872989-123873304	NONHSAT031588
3	lnc-SETD8-1	chr12:123849185-123849694	NONHSAT031586
4	lnc-SETD8-1	chr12:123850072-123850660	ENSG00000256092
5	lnc-SETD8-1	chr12:123850072-123850334	NONHSAT031583
6	lnc-SETD8-1	chr12:123848356-123848554	NONHSAT031583
7	lnc-SETD8-1	chr12:123848415-123850334	ENSG00000256092.2
8	lnc-SETD8-1	chr12:123849537-123850305	NONHSAT031585
9	lnc-SETD8-1	chr12:123848415-123848554	NONHSAT031585
10	lnc-SNRNP35-4	chr12:123868720-123868755	NONHSAT031588
11	lnc-SETD8-1	chr12:123849500-123849662	ENSG00000256092
12	lnc-SETD8-1	chr12:123850072-123850216	NONHSAT031586

miRNA name	Chromosome Location	mirBase accession
hsa-miR-8072	chr12:123849361-123849380	MIMAT0030999

(count:9 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	SETD8	hsa-miR-127-3p	chr12:123893741-123893763
2	SETD8	hsa-miR-186-5p	chr12:123892981-123892988
3	SETD8	hsa-miR-7-5p	chr12:123893704-123893710
4	SETD8	hsa-miR-7-5p	chr12:123893689-123893711
5	SETD8	hsa-miR-127-3p	chr12:123893756-123893763
6	SETD8	hsa-miR-7-5p	chr12:123892787-123892793
7	SETD8	hsa-miR-186-5p	chr12:123892964-123892988
8	SETD8	hsa-miR-7-5p	chr12:123892771-123892794
9	SETD8	hsa-miR-7-5p	chr12:123892504-123892526

Variant related genes	Relation type
SETD8	TF binding region
SBNO1	TF binding region
ENSG00000256092	TF binding region
SETD8	CpG island
SBNO1	CpG island
ENSG00000256092	CpG island
ENSG00000139697	chromatin interactions
ENSG00000111364	chromatin interactions
ENSG00000181830	chromatin interactions
ENSG00000178057	chromatin interactions
ENSG00000269821	chromatin interactions
ENSG00000251562	chromatin interactions
ENSG00000264229	chromatin interactions
ENSG00000150977	chromatin interactions
ENSG00000111361	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000074054	chromatin interactions
ENSG00000269980	chromatin interactions
ENSG00000207189	chromatin interactions
ENSG00000235423	chromatin interactions
ENSG00000178149	chromatin interactions
ENSG00000247373	chromatin interactions
ENSG00000133639	chromatin interactions
ENSG00000188026	chromatin interactions
ENSG00000068097	chromatin interactions
ENSG00000150967	chromatin interactions
ENSG00000267416	chromatin interactions
ENSG00000132475	chromatin interactions
ENSG00000189227	chromatin interactions
ENSG00000111358	chromatin interactions
ENSG00000184209	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000162714	chromatin interactions
ENSG00000111325	chromatin interactions
ENSG00000245904	chromatin interactions
ENSG00000183955	chromatin interactions
ENSG00000111328	chromatin interactions
ENSG00000273338	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000086598	chromatin interactions
ENSG00000232531	chromatin interactions
ENSG00000256092	chromatin interactions
ENSG00000256028	chromatin interactions
ENSG00000185344	chromatin interactions
ENSG00000259673	chromatin interactions
ENSG00000200156	chromatin interactions
KIF16B	miRNA target sites
DVL2	miRNA target sites

Extended variants
information (count: 2429 )
Associated
traits (count: 72 )

Variant overlapped rSNPs/rCNVs (count:2429 , 50 per page) page: 1 2 3 4 5 6 7 ... 49

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9668827	chr12:123843017-123843018	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs10734902	chr12:123843038-123843039	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs567634914	chr12:123843099-123843100	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs553854927	chr12:123843113-123843114	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs572385805	chr12:123843115-123843116	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs546017469	chr12:123843116-123843117	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs558276751	chr12:123843133-123843134	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs34563239	chr12:123843155-123843156	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs536771172	chr12:123843163-123843164	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs113143191	chr12:123843167-123843168	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs577113441	chr12:123843180-123843181	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs554023845	chr12:123843203-123843204	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs10773015	chr12:123843222-123843223	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
14	rs10773016	chr12:123843239-123843240	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs529917233	chr12:123843247-123843248	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs542084657	chr12:123843252-123843253	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs10773017	chr12:123843273-123843274	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs112707178	chr12:123843295-123843296	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs543591936	chr12:123843312-123843313	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs71085891	chr12:123843313-123843314	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs200584217	chr12:123843314-123843315	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs373412900	chr12:123843315-123843316	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs190752450	chr12:123843375-123843376	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs61955083	chr12:123843379-123843380	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs570165779	chr12:123843402-123843403	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs150172409	chr12:123843411-123843412	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs549929468	chr12:123843416-123843417	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs568438438	chr12:123843430-123843431	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs535803646	chr12:123843441-123843442	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs575859014	chr12:123843451-123843452	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs75873799	chr12:123843454-123843455	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs560744477	chr12:123843457-123843458	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs565983280	chr12:123843473-123843474	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs138663249	chr12:123843505-123843506	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs529623195	chr12:123843531-123843532	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs576569820	chr12:123843540-123843541	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs183759006	chr12:123843543-123843544	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs556420184	chr12:123843571-123843572	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs188640950	chr12:123843595-123843596	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs541799283	chr12:123843629-123843630	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs560393534	chr12:123843682-123843683	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs571950364	chr12:123843716-123843717	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs539976165	chr12:123843727-123843728	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs149348176	chr12:123843755-123843756	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
45	rs61955084	chr12:123843759-123843760	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs11057288	chr12:123843823-123843824	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs573688277	chr12:123843833-123843834	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
48	rs372182714	chr12:123843889-123843890	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs142862655	chr12:123843890-123843891	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs117658033	chr12:123843927-123843928	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:3001 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123772400-123847800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:123807600-123845200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:123816000-123847400	Weak transcription	Stomach Mucosa	stomach
4	chr12:123820400-123847000	Weak transcription	Fetal Brain Male	brain
5	chr12:123829000-123847400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr12:123830000-123847400	Weak transcription	Brain Substantia Nigra	brain
7	chr12:123830000-123847400	Weak transcription	Colonic Mucosa	Colon
8	chr12:123830000-123847400	Weak transcription	NHLF	lung
9	chr12:123830200-123847400	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr12:123830200-123847400	Weak transcription	NHDF-Ad	bronchial
11	chr12:123830200-123847600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr12:123830400-123847600	Weak transcription	Aorta	Aorta
13	chr12:123830600-123847600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr12:123830800-123844800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:123830800-123846600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:123830800-123847200	Weak transcription	Hela-S3	cervix
17	chr12:123830800-123847200	Weak transcription	HSMMtube	muscle
18	chr12:123832400-123848200	Weak transcription	Esophagus	oesophagus
19	chr12:123832600-123846400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:123832600-123846600	Weak transcription	Spleen	Spleen
21	chr12:123832800-123847000	Weak transcription	Rectal Mucosa Donor 31	rectum
22	chr12:123832800-123847000	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr12:123832800-123847200	Weak transcription	Brain Anterior Caudate	brain
24	chr12:123832800-123847400	Weak transcription	Osteobl	bone
25	chr12:123832800-123847800	Weak transcription	Fetal Kidney	kidney
26	chr12:123833000-123847000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:123833000-123847000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr12:123833800-123847600	Weak transcription	NH-A	brain
29	chr12:123834000-123847000	Weak transcription	Adipose Nuclei	Adipose
30	chr12:123834200-123847000	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:123834200-123847400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr12:123834200-123847400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:123834200-123847400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:123834400-123846400	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:123834600-123847400	Weak transcription	NHEK	skin
36	chr12:123834800-123846400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr12:123834800-123847000	Weak transcription	Placenta	Placenta
38	chr12:123834800-123847600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr12:123835000-123844400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr12:123835000-123847400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr12:123835000-123847400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr12:123835000-123847400	Weak transcription	Thymus	Thymus
43	chr12:123835000-123847800	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr12:123835000-123848200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr12:123835200-123847600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr12:123835400-123847400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr12:123835400-123847800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr12:123835400-123847800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr12:123836000-123848200	Weak transcription	Gastric	stomach
50	chr12:123837400-123847200	Weak transcription	Primary monocytes fromperipheralblood	blood

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