Variant report

Variant	esv3360797
Chromosome Location	chr12:123318974-123321472
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:481)
CpG islands
(count:917)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:481 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr12:123320826-123321038	K562	blood:	n/a	n/a
2	ARID3A	chr12:123320755-123321036	HepG2	liver:	n/a	n/a
3	ATF1	chr12:123321174-123321429	K562	blood:	n/a	n/a
4	ATF2	chr12:123320995-123321471	GM12878	blood:	n/a	n/a
5	BACH1	chr12:123318976-123319114	H1-hESC	embryonic stem cell:	n/a	n/a
6	BHLHE40	chr12:123320002-123320176	K562	blood:	n/a	chr12:123320080-123320096
7	BHLHE40	chr12:123320768-123320774	GM12878	blood:	n/a	n/a
8	BHLHE40	chr12:123320693-123320914	K562	blood:	n/a	n/a
9	BHLHE40	chr12:123320030-123320402	GM12878	blood:	n/a	chr12:123320080-123320096
10	BHLHE40	chr12:123321126-123321428	K562	blood:	n/a	n/a
11	CCNT2	chr12:123319962-123320553	K562	blood:	n/a	n/a
12	CEBPB	chr12:123319251-123319505	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr12:123318900-123319567	Hela-S3	cervix:	n/a	n/a
14	CEBPB	chr12:123319242-123319454	HepG2	liver:	n/a	n/a
15	CEBPD	chr12:123320309-123320573	HepG2	liver:	n/a	n/a
16	CHD2	chr12:123320972-123321333	GM12878	blood:	n/a	n/a
17	CHD2	chr12:123320920-123321091	Hela-S3	cervix:	n/a	n/a
18	CHD2	chr12:123318968-123319152	H1-hESC	embryonic stem cell:	n/a	n/a
19	CHD2	chr12:123318948-123320148	Hela-S3	cervix:	n/a	n/a
20	CREB1	chr12:123319927-123320161	A549	lung:	n/a	n/a
21	CTCF	chr12:123319080-123319230	HCM	heart:	n/a	chr12:123319209-123319218
22	CTCF	chr12:123318960-123319110	HVMF	connective:	n/a	n/a
23	CTCF	chr12:123318909-123319051	Gliobla	brain:	n/a	n/a
24	CTCF	chr12:123320920-123321070	NB4	blood:	n/a	n/a
25	CTCF	chr12:123320230-123320545	GM12878	blood:	n/a	n/a
26	CTCF	chr12:123319140-123319290	GM12878	blood:	n/a	chr12:123319209-123319218
27	CTCF	chr12:123320260-123320410	GM12873	blood:	n/a	n/a
28	CTCF	chr12:123318940-123319090	HMF	breast:	n/a	n/a
29	CTCF	chr12:123319244-123319265	MCF-7	breast:	n/a	n/a
30	CTCF	chr12:123318940-123319090	BE2_C	brain:	n/a	n/a
31	CTCF	chr12:123320242-123320451	K562	blood:	n/a	n/a
32	CTCF	chr12:123318960-123319110	AG04450	lung:	n/a	n/a
33	CTCF	chr12:123320260-123320410	GM12874	blood:	n/a	n/a
34	CTCF	chr12:123318920-123319070	HEEpiC	esophagus:	n/a	n/a
35	CTCF	chr12:123320321-123320466	GM10266	blood:	n/a	n/a
36	CTCF	chr12:123319280-123319430	HRE	kidney:	n/a	n/a
37	CTCF	chr12:123320600-123320750	GM12865	blood:	n/a	n/a
38	CTCF	chr12:123318920-123319070	HBMEC	blood vessel:	n/a	n/a
39	CTCF	chr12:123319060-123319210	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr12:123318989-123319045	Kidney_OC	kidney:	n/a	n/a
41	CTCF	chr12:123320260-123320410	HMEC	breast:	n/a	n/a
42	CTCF	chr12:123318940-123319090	A549	lung:	n/a	n/a
43	CTCF	chr12:123320366-123320430	GM20000	blood:	n/a	n/a
44	CTCF	chr12:123318900-123319050	HMF	breast:	n/a	n/a
45	CTCF	chr12:123318960-123319110	WERI-Rb-1	eye:	n/a	n/a
46	CTCF	chr12:123319080-123319230	GM12875	blood:	n/a	chr12:123319209-123319218
47	CTCF	chr12:123318879-123319302	GM12878	blood:	n/a	chr12:123319209-123319218
48	CTCF	chr12:123318931-123319052	A549	lung:	n/a	n/a
49	CTCF	chr12:123318920-123319070	GM12878	blood:	n/a	n/a
50	CTCF	chr12:123318900-123319050	RPTEC	kidney:	n/a	n/a

(count:917 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:123321254-123321304	PFSK-1	brain:	n/a
2	chr12:123319981-123320031	Hepatocyte	liver:	n/a
3	chr12:123321254-123321304	PFSK-1	brain:	n/a
4	chr12:123319981-123320031	Hepatocyte	liver:	n/a
5	chr12:123319366-123319416	AG04449	skin:	fetal
6	chr12:123320751-123320801	HRPEpiC	eye:	n/a
7	chr12:123319339-123319389	HIPEpiC	eye:	n/a
8	chr12:123320611-123320661	NB4	blood:	n/a
9	chr12:123321254-123321304	ovcar-3	ovarian:	n/a
10	chr12:123319250-123319300	Caco-2	colon:	n/a
11	chr12:123320915-123320965	CMK	blood:	n/a
12	chr12:123319894-123319944	HRE	kidney:	n/a
13	chr12:123320057-123320107	GM19239	blood:	n/a
14	chr12:123320611-123320661	PANC-1	pancreas:	n/a
15	chr12:123320611-123320661	HAEpiC	amniotic membrane:	n/a
16	chr12:123320057-123320107	AG09319	gingival:	n/a
17	chr12:123321254-123321304	NT2-D1	testis:	n/a
18	chr12:123319250-123319300	AG10803	skin:	n/a
19	chr12:123319216-123319266	NT2-D1	testis:	n/a
20	chr12:123319906-123319956	HMEC	breast:	n/a
21	chr12:123319216-123319266	AG09319	gingival:	n/a
22	chr12:123319981-123320031	GM12891	blood:	n/a
23	chr12:123320751-123320801	ProgFib	skin:	n/a
24	chr12:123319250-123319300	BJ	skin:	n/a
25	chr12:123319906-123319956	HCPEpiC	choroid plexus:	n/a
26	chr12:123320751-123320801	MCF-7	breast:	n/a
27	chr12:123319339-123319389	HL-60	blood:	n/a
28	chr12:123319366-123319416	HCM	heart:	n/a
29	chr12:123319894-123319944	GM12892	blood:	n/a
30	chr12:123319339-123319389	GM06990	blood:	n/a
31	chr12:123320915-123320965	PrEC	prostate:	n/a
32	chr12:123320057-123320107	HNPCEpiC	eye:	n/a
33	chr12:123321307-123321357	AG10803	skin:	n/a
34	chr12:123319894-123319944	NB4	blood:	n/a
35	chr12:123320611-123320661	HCT-116	colon:	n/a
36	chr12:123320611-123320661	HNPCEpiC	eye:	n/a
37	chr12:123319900-123319950	HUVEC	blood vessel:	n/a
38	chr12:123319981-123320031	HPAEpiC	pulmonary alveolar:	n/a
39	chr12:123320057-123320107	SK-N-SH_RA	brain:	n/a
40	chr12:123320611-123320661	HRPEpiC	eye:	n/a
41	chr12:123319250-123319300	BE2_C	brain:	n/a
42	chr12:123319981-123320031	AG10803	skin:	n/a
43	chr12:123320611-123320661	HPAEpiC	pulmonary alveolar:	n/a
44	chr12:123319339-123319389	NHDF-neo	bronchial:	n/a
45	chr12:123321334-123321384	HCF	heart:	n/a
46	chr12:123320751-123320801	GM12892	blood:	n/a
47	chr12:123320611-123320661	BE2_C	brain:	n/a
48	chr12:123320915-123320965	HL-60	blood:	n/a
49	chr12:123319906-123319956	LNCaP	prostate:	n/a
50	chr12:123321307-123321357	RPTEC	kidney:	n/a

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:123257747..123262116-chr12:123318149..123321331,4	MCF-7	breast:
2	chr12:123320093..123322586-chr12:123715495..123717565,2	K562	blood:
3	chr12:123321334..123323006-chr12:123430937..123432965,2	MCF-7	breast:
4	chr12:123318351..123322726-chr12:123344658..123350717,8	MCF-7	breast:
5	chr12:123320203..123322846-chr12:123716653..123718204,2	MCF-7	breast:
6	chr12:123321295..123323539-chr12:123344367..123346467,3	MCF-7	breast:
7	chr12:123319497..123321053-chr12:123333768..123335476,2	K562	blood:
8	chr12:123213106..123215069-chr12:123321149..123322935,2	MCF-7	breast:
9	chr12:123321291..123323892-chr12:123444965..123447071,2	MCF-7	breast:
10	chr12:123319262..123321924-chr12:123450152..123453465,3	K562	blood:
11	chr12:123318920..123320804-chr12:123431971..123434703,2	MCF-7	breast:
12	chr12:123318760..123321217-chr12:123449684..123452450,2	K562	blood:
13	chr12:123321243..123322853-chr12:123379142..123381791,2	MCF-7	breast:
14	chr12:123237061..123238610-chr12:123318389..123320839,2	MCF-7	breast:
15	chr12:123318440..123320805-chr12:123633475..123636263,2	MCF-7	breast:
16	chr12:123319135..123321319-chr3:160936978..160939441,2	MCF-7	breast:
17	chr12:123318632..123320877-chr12:123355595..123357643,2	MCF-7	breast:
18	chr12:123318894..123320705-chr12:123342894..123344549,3	MCF-7	breast:
19	chr12:123318837..123320791-chr12:123463752..123466824,3	MCF-7	breast:
20	chr12:123317720..123322313-chr12:123372173..123377754,7	MCF-7	breast:
21	chr12:123317692..123320507-chr12:123463597..123466562,3	MCF-7	breast:
22	chr12:123319192..123322007-chr12:123336993..123339222,2	MCF-7	breast:

No data

Variant related genes	Relation type
HIP1R	TF binding region
HIP1R	CpG island
ENSG00000182196	chromatin interactions
ENSG00000130787	chromatin interactions
ENSG00000139726	chromatin interactions
ENSG00000130921	chromatin interactions
ENSG00000051825	chromatin interactions
ENSG00000139722	chromatin interactions
ENSG00000150967	chromatin interactions
ENSG00000169251	chromatin interactions
ENSG00000130783	chromatin interactions
ENSG00000256152	chromatin interactions
ENSG00000090975	chromatin interactions

Extended variants
information (count: 50 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:50 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs543449077	chr12:123318992-123318993	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
2	rs186659070	chr12:123319024-123319025	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
3	rs149155132	chr12:123319120-123319121	Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
4	rs547644678	chr12:123319200-123319201	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
5	rs559883928	chr12:123319250-123319251	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
6	rs533390665	chr12:123319292-123319293	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
7	rs551655877	chr12:123319371-123319372	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
8	rs570055350	chr12:123319444-123319445	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
9	rs370652215	chr12:123319464-123319465	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
10	rs548968897	chr12:123319475-123319476	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
11	rs567626038	chr12:123319565-123319566	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
12	rs535102258	chr12:123319604-123319605	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
13	rs112066678	chr12:123319647-123319648	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
14	rs572201084	chr12:123319695-123319696	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
15	rs539684752	chr12:123319708-123319709	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
16	rs191558208	chr12:123319772-123319773	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
17	rs576405428	chr12:123319817-123319818	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
18	rs540174077	chr12:123319880-123319881	Weak transcription Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
19	rs376073613	chr12:123320070-123320071	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
20	rs368388843	chr12:123320076-123320077	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
21	rs371920695	chr12:123320086-123320087	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
22	rs545043313	chr12:123320195-123320196	Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	10 gene(s)	Overlapped CNVs	n/a
23	rs561736715	chr12:123320551-123320552	Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
24	rs12820345	chr12:123320579-123320580	Weak transcription Bivalent/Poised TSS Active TSS	Chromatin interactive region	11 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs541101148	chr12:123320606-123320607	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
26	rs143280537	chr12:123320645-123320646	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
27	rs184035869	chr12:123320657-123320658	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
28	rs188112380	chr12:123320705-123320706	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
29	rs563593333	chr12:123320786-123320787	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	11 gene(s)	Overlapped CNVs	n/a
30	rs531132375	chr12:123320807-123320808	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	9 gene(s)	Overlapped CNVs	n/a
31	rs79355888	chr12:123320874-123320875	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs567630260	chr12:123320886-123320887	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs372781828	chr12:123320888-123320889	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs151280899	chr12:123320947-123320948	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs549732934	chr12:123320977-123320978	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs386767137	chr12:123320982-123320983	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs75691486	chr12:123320983-123320984	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs374073601	chr12:123321006-123321007	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs193064287	chr12:123321018-123321019	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs547365557	chr12:123321051-123321052	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs566010988	chr12:123321053-123321054	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs79865695	chr12:123321066-123321067	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs377085616	chr12:123321085-123321086	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs141744568	chr12:123321165-123321166	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
45	rs147604211	chr12:123321259-123321260	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
46	rs569929258	chr12:123321268-123321269	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
47	rs367678990	chr12:123321381-123321382	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs75762911	chr12:123321405-123321406	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs555405034	chr12:123321445-123321446	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs573580627	chr12:123321461-123321462	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription	Chromatin interactive region	6 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
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
Ependymoma	20639864	CNVD

Chromatin state (count:504 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123310400-123319200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr12:123311200-123319000	Weak transcription	Aorta	Aorta
3	chr12:123313800-123319200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:123315600-123319200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:123316400-123319200	Weak transcription	Gastric	stomach
6	chr12:123318400-123319000	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr12:123318600-123319000	Enhancers	Stomach Mucosa	stomach
8	chr12:123318800-123319000	Enhancers	H1 Cell Line	embryonic stem cell
9	chr12:123318800-123319000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:123318800-123319000	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
11	chr12:123318800-123319000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:123318800-123319000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:123318800-123319000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:123318800-123319000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr12:123318800-123319000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr12:123318800-123319000	Active TSS	Primary B cells from cord blood	blood
17	chr12:123318800-123319000	Enhancers	Primary T cells from cord blood	blood
18	chr12:123318800-123319000	Enhancers	Primary T cells fromperipheralblood	blood
19	chr12:123318800-123319000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:123318800-123319000	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr12:123318800-123319000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr12:123318800-123319000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:123318800-123319000	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr12:123318800-123319000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr12:123318800-123319000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:123318800-123319000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:123318800-123319000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:123318800-123319000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:123318800-123319000	Active TSS	Adipose Nuclei	Adipose
30	chr12:123318800-123319000	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr12:123318800-123319000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
32	chr12:123318800-123319000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:123318800-123319000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
34	chr12:123318800-123319000	Flanking Active TSS	Fetal Kidney	kidney
35	chr12:123318800-123319000	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr12:123318800-123319000	Enhancers	Placenta	Placenta
37	chr12:123318800-123319000	Bivalent Enhancer	Fetal Stomach	stomach
38	chr12:123318800-123319000	Enhancers	Pancreas	Pancrea
39	chr12:123318800-123319000	Enhancers	Rectal Smooth Muscle	rectum
40	chr12:123318800-123319000	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr12:123318800-123319000	Flanking Active TSS	HepG2	liver
42	chr12:123318800-123319000	Enhancers	HSMM	muscle
43	chr12:123318800-123319000	Active TSS	NH-A	brain
44	chr12:123318800-123319000	Enhancers	NHEK	skin
45	chr12:123318800-123319200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
46	chr12:123318800-123319200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr12:123318800-123319200	Enhancers	Primary B cells from peripheral blood	blood
48	chr12:123318800-123319200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr12:123318800-123319200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr12:123318800-123319200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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