Variant report

Variant	rs6750542
Chromosome Location	chr2:96011838-96011839
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr2:96011249-96012068	MCF-7	breast:	n/a	n/a
2	TCF7L2	chr2:96010942-96011935	Hela-S3	cervix:	n/a	chr2:96011880-96011887
3	MAX	chr2:96011341-96011923	K562	blood:	n/a	n/a
4	SIN3AK20	chr2:96011724-96012207	PANC-1	pancreas:	n/a	n/a
5	CCNT2	chr2:96011206-96012770	K562	blood:	n/a	chr2:96012075-96012084
6	MAX	chr2:96011203-96011946	A549	lung:	n/a	n/a
7	RCOR1	chr2:96010737-96012375	IMR90	lung:	n/a	n/a
8	ZBTB7A	chr2:96011125-96012379	ECC-1	luminal epithelium:	n/a	chr2:96011148-96011156
9	MYC	chr2:96011278-96011912	NB4	blood:	n/a	n/a
10	POLR2A	chr2:96011195-96012004	PANC-1	pancreas:	n/a	n/a
11	TCF12	chr2:96011116-96012079	A549	lung:	n/a	chr2:96011382-96011389
12	E2F6	chr2:96011243-96011913	H1-hESC	embryonic stem cell:	n/a	chr2:96011673-96011682 chr2:96011720-96011730 chr2:96011569-96011580 chr2:96011717-96011727 chr2:96011558-96011572 chr2:96011670-96011682 chr2:96011561-96011570 chr2:96011443-96011452
13	STAT3	chr2:96011537-96012112	MCF10A-Er-Src	breast:	n/a	chr2:96011925-96011945
14	ZBTB7A	chr2:96011243-96012365	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr2:96011323-96012323	MCF10A-Er-Src	breast:	n/a	n/a
16	MAX	chr2:96011099-96012889	MCF-7	breast:	n/a	chr2:96012047-96012057 chr2:96011161-96011170 chr2:96012714-96012723
17	RCOR1	chr2:96011020-96011961	K562	blood:	n/a	n/a
18	MAZ	chr2:96011104-96012811	IMR90	lung:	n/a	chr2:96012047-96012057 chr2:96011161-96011170 chr2:96012714-96012723
19	CTCF	chr2:96011019-96011937	HCT-116	colon:	n/a	chr2:96011445-96011458 chr2:96011142-96011155
20	MAZ	chr2:96011094-96012333	Hela-S3	cervix:	n/a	chr2:96012047-96012057 chr2:96011161-96011170
21	CTCF	chr2:96010910-96012000	SK-N-SH	brain:	n/a	chr2:96011445-96011458 chr2:96011142-96011155
22	E2F4	chr2:96011323-96012266	K562	blood:	n/a	chr2:96011933-96011940 chr2:96011673-96011682 chr2:96012038-96012048 chr2:96011720-96011730 chr2:96011933-96011940 chr2:96011717-96011727 chr2:96011558-96011572 chr2:96012041-96012051 chr2:96011670-96011682 chr2:96011561-96011570 chr2:96011933-96011940 chr2:96011443-96011452
23	CTCF	chr2:96011700-96011850	HEK293	kidney:	n/a	n/a
24	RCOR1	chr2:96011222-96012276	K562	blood:	n/a	n/a
25	KAP1	chr2:96011095-96011914	HEK293	kidney:	n/a	n/a
26	MAX	chr2:96011005-96012353	A549	lung:	n/a	chr2:96012047-96012057 chr2:96011161-96011170
27	STAT3	chr2:96011305-96012116	MCF10A-Er-Src	breast:	n/a	chr2:96011925-96011945
28	STAT3	chr2:96011443-96012071	MCF10A-Er-Src	breast:	n/a	chr2:96011925-96011945
29	NFIC	chr2:96011832-96012373	ECC-1	luminal epithelium:	n/a	n/a
30	MAX	chr2:96011288-96011881	NB4	blood:	n/a	n/a
31	SMC3	chr2:96011299-96011853	K562	blood:	n/a	chr2:96011713-96011723 chr2:96011445-96011455
32	MYC	chr2:96011748-96012246	K562	blood:	n/a	chr2:96012047-96012057
33	POLR2A	chr2:96011331-96012314	K562	blood:	n/a	n/a
34	HDAC2	chr2:96011113-96012036	MCF-7	breast:	n/a	chr2:96011549-96011563
35	CHD2	chr2:96011237-96011868	K562	blood:	n/a	n/a
36	UBTF	chr2:96011272-96012625	K562	blood:	n/a	n/a
37	TCF7L2	chr2:96011106-96012282	HCT-116	colon:	n/a	chr2:96011880-96011887
38	ZNF143	chr2:96011264-96011856	H1-hESC	embryonic stem cell:	n/a	chr2:96011442-96011452
39	CTCF	chr2:96011720-96011870	GM12867	blood:	n/a	n/a
40	HMGN3	chr2:96011049-96013137	K562	blood:	n/a	n/a
41	POLR2A	chr2:96011232-96012292	PANC-1	pancreas:	n/a	n/a
42	BACH1	chr2:96011193-96011935	H1-hESC	embryonic stem cell:	n/a	n/a
43	MYC	chr2:96011204-96012295	K562	blood:	n/a	chr2:96012047-96012057
44	RCOR1	chr2:96011231-96011913	Hela-S3	cervix:	n/a	n/a
45	HA-E2F1	chr2:96011087-96012070	MCF-7	breast:	n/a	chr2:96011933-96011940 chr2:96011673-96011682 chr2:96012038-96012048 chr2:96011720-96011730 chr2:96011933-96011940 chr2:96011717-96011727 chr2:96011558-96011572 chr2:96012041-96012051 chr2:96011670-96011682 chr2:96011561-96011570 chr2:96011933-96011940 chr2:96011443-96011452
46	MAX	chr2:96010932-96012931	A549	lung:	n/a	chr2:96012047-96012057 chr2:96011161-96011170 chr2:96012714-96012723
47	MAX	chr2:96011230-96012324	K562	blood:	n/a	chr2:96012047-96012057
48	ZBTB7A	chr2:96011305-96012310	K562	blood:	n/a	n/a
49	MAX	chr2:96011181-96011946	ECC-1	luminal epithelium:	n/a	n/a
50	ELF1	chr2:96011361-96011911	K562	blood:	n/a	chr2:96011512-96011524 chr2:96011400-96011409 chr2:96011475-96011487 chr2:96011716-96011725

No.	Distal block	Cell Line	Cell type
1	chr2:95993761..95997355-chr2:96009051..96012049,3	K562	blood:
2	chr2:96011035..96011867-chr2:96054738..96055589,3	MCF-7	breast:
3	chr2:95936957..95940788-chr2:96009231..96012475,5	MCF-7	breast:
4	chr2:95988885..95989833-chr2:96011018..96011890,3	MCF-7	breast:
5	chr2:95926758..95928320-chr2:96008890..96011843,2	K562	blood:
6	chr2:96011050..96011912-chr2:96394384..96395342,2	MCF-7	breast:
7	chr2:95988846..95989673-chr2:96011074..96011939,2	K562	blood:
8	chr2:95988380..95990496-chr2:96009611..96012136,2	K562	blood:

Variant related genes	Relation type
KCNIP3	TF binding region
ENSG00000155066	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs10195614	0.92[EUR][1000 genomes]
rs10874471	0.83[AMR][1000 genomes]
rs1104775	0.89[EUR][1000 genomes]
rs11164122	0.87[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11164125	0.82[YRI][hapmap]
rs11897976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12468777	0.80[AMR][1000 genomes]
rs12992066	0.86[EUR][1000 genomes]
rs1559483	0.87[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17119148	0.91[CEU][hapmap]
rs1862897	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1875402	0.90[CEU][hapmap]
rs1966272	0.82[EUR][1000 genomes]
rs2042477	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2098768	0.82[EUR][1000 genomes]
rs2113417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2113419	0.81[AMR][1000 genomes]
rs2278065	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2320339	0.90[EUR][1000 genomes]
rs2320431	0.82[YRI][hapmap]
rs3105104	0.90[CEU][hapmap]
rs3105105	0.95[CEU][hapmap]
rs3112228	0.90[CEU][hapmap]
rs3112229	0.85[CEU][hapmap]
rs3112230	0.90[CEU][hapmap]
rs3112996	0.90[CEU][hapmap]
rs3112997	0.90[CEU][hapmap]
rs3755518	0.83[YRI][hapmap]
rs3755519	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3755520	0.86[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3755521	0.82[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3755523	0.86[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3755525	0.87[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3772031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3772032	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3772033	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3772034	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3772037	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3772041	0.86[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3772042	0.86[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3772043	0.87[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3772044	0.95[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3821341	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4283455	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4854247	0.80[EUR][1000 genomes]
rs4854249	0.83[EUR][1000 genomes]
rs4854251	0.82[YRI][hapmap];0.83[AMR][1000 genomes]
rs58610630	0.83[AMR][1000 genomes]
rs6577012	0.86[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6577013	0.86[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6715813	0.86[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6719098	0.80[EUR][1000 genomes]
rs6725821	0.90[CEU][hapmap]
rs6741001	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7574862	0.86[CEU][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7580685	0.86[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7585914	0.90[CEU][hapmap];0.88[EUR][1000 genomes]
rs7586229	0.88[EUR][1000 genomes]
rs7594144	0.89[CEU][hapmap];0.90[CHB][hapmap];0.92[JPT][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7602807	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs869185	0.83[YRI][hapmap]
rs870393	0.81[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs889851	0.86[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs889852	0.86[CEU][hapmap];0.91[CHB][hapmap];0.94[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs889853	0.87[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.83[YRI][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs918811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9678800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9989786	0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
2	nsv1008945	chr2:95745367-96062107	Weak transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv817299	chr2:95799814-96159275	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv998370	chr2:95897299-96074071	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv535823	chr2:95897299-96074071	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv998014	chr2:95913278-96296630	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv528011	chr2:95931218-96057011	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1010831	chr2:95935648-96074213	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv535824	chr2:95935648-96074213	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv482871	chr2:95936531-96036880	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	esv2757818	chr2:95970138-96152559	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	esv2759076	chr2:95970138-96152559	Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv998543	chr2:95979772-96074212	Enhancers Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
14	nsv535825	chr2:95979772-96074212	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
15	nsv582496	chr2:95999856-96020029	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
16	nsv829578	chr2:96010192-96015186	Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
17	esv3321815	chr2:96010750-96013598	Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
18	esv3437070	chr2:96011450-96013998	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
19	esv3504135	chr2:96011525-96013598	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
20	esv3504136	chr2:96011525-96013598	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
21	nsv829579	chr2:96011563-96014374	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6750542	KCNIP3	cis	Thyroid	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96010800-96012000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:96010800-96012800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:96011000-96012000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr2:96011000-96012000	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
5	chr2:96011000-96012000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
6	chr2:96011000-96012000	Flanking Active TSS	Adipose Nuclei	Adipose
7	chr2:96011000-96012000	Flanking Active TSS	Brain Hippocampus Middle	brain
8	chr2:96011000-96012000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
9	chr2:96011000-96012000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
10	chr2:96011000-96012000	Flanking Active TSS	Right Ventricle	heart
11	chr2:96011000-96012000	Active TSS	HSMMtube	muscle
12	chr2:96011000-96012200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:96011000-96012200	Active TSS	K562	blood
14	chr2:96011000-96012800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:96011000-96012800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr2:96011000-96012800	Active TSS	Brain Anterior Caudate	brain
17	chr2:96011000-96012800	Active TSS	Rectal Smooth Muscle	rectum
18	chr2:96011000-96013000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:96011000-96013000	Active TSS	Aorta	Aorta
20	chr2:96011000-96013200	Active TSS	HSMM	muscle
21	chr2:96011200-96012000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:96011200-96012000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:96011200-96012000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
24	chr2:96011200-96012000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:96011200-96012000	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
26	chr2:96011200-96012000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
27	chr2:96011200-96012000	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
28	chr2:96011200-96012000	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr2:96011200-96012000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
30	chr2:96011200-96012000	Flanking Active TSS	Liver	Liver
31	chr2:96011200-96012000	Active TSS	Brain Substantia Nigra	brain
32	chr2:96011200-96012000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
33	chr2:96011200-96012000	Bivalent Enhancer	Fetal Brain Male	brain
34	chr2:96011200-96012000	Active TSS	Fetal Kidney	kidney
35	chr2:96011200-96012200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
36	chr2:96011200-96012200	Active TSS	Colon Smooth Muscle	Colon
37	chr2:96011200-96012200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
38	chr2:96011200-96012600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:96011200-96012800	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr2:96011200-96012800	Active TSS	Gastric	stomach
41	chr2:96011200-96012800	Active TSS	NHDF-Ad	bronchial
42	chr2:96011200-96013000	Bivalent/Poised TSS	Thymus	Thymus
43	chr2:96011200-96013000	Active TSS	NHLF	lung
44	chr2:96011200-96013200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
45	chr2:96011200-96013200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
46	chr2:96011200-96013200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
47	chr2:96011200-96013400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
48	chr2:96011400-96012000	Flanking Bivalent TSS/Enh	Primary monocytes fromperipheralblood	blood
49	chr2:96011400-96012000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr2:96011400-96012000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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