Variant report

Variant	rs34541954
Chromosome Location	chr7:100965321-100965322
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:211)
CpG islands
(count:61)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:211 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:100964835-100965387	GM18526	blood:	n/a	n/a
2	POLR2A	chr7:100964891-100965732	GM12878	blood:	n/a	n/a
3	POLR2A	chr7:100964865-100965602	HCT-116	colon:	n/a	n/a
4	POLR2A	chr7:100964843-100965340	A549	lung:	n/a	n/a
5	POLR2A	chr7:100964914-100965379	GM12892	blood:	n/a	n/a
6	POLR2A	chr7:100964766-100965378	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr7:100964865-100965378	GM19099	blood:	n/a	n/a
8	POLR2A	chr7:100964773-100965768	K562	blood:	n/a	n/a
9	TAF1	chr7:100964880-100965657	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr7:100964691-100965889	GM12892	blood:	n/a	n/a
11	POLR2A	chr7:100964763-100965873	ECC-1	luminal epithelium:	n/a	n/a
12	HEY1	chr7:100964869-100965390	HepG2	liver:	n/a	n/a
13	CTCF	chr7:100965300-100965450	HVMF	connective:	n/a	n/a
14	POLR2A	chr7:100964860-100965389	NB4	blood:	n/a	n/a
15	SIN3A	chr7:100964624-100965634	H1-hESC	embryonic stem cell:	n/a	chr7:100964701-100964715
16	ELK1	chr7:100964912-100965643	GM12878	blood:	n/a	chr7:100965115-100965124 chr7:100965115-100965124
17	POLR2A	chr7:100964871-100966079	GM12891	blood:	n/a	n/a
18	EP300	chr7:100964825-100965500	A549	lung:	n/a	chr7:100965116-100965123
19	POLR2A	chr7:100964812-100965865	MCF-7	breast:	n/a	n/a
20	POLR2A	chr7:100964745-100965413	A549	lung:	n/a	n/a
21	RUNX3	chr7:100964580-100965411	GM12878	blood:	n/a	n/a
22	POLR2A	chr7:100964780-100965379	GM12878	blood:	n/a	n/a
23	GABPA	chr7:100964571-100965854	MCF-7	breast:	n/a	chr7:100965123-100965132
24	POLR2A	chr7:100964863-100965358	GM12891	blood:	n/a	n/a
25	MXI1	chr7:100963782-100966265	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr7:100964792-100965689	PFSK-1	brain:	n/a	n/a
27	CTCF	chr7:100964648-100965935	A549	lung:	n/a	chr7:100965537-100965553 chr7:100965539-100965552 chr7:100965536-100965554 chr7:100965538-100965559
28	REST	chr7:100964369-100966043	H1-neurons	neurons:	n/a	chr7:100964700-100964714
29	HEY1	chr7:100964939-100965362	K562	blood:	n/a	n/a
30	RAD21	chr7:100965288-100965760	A549	lung:	n/a	chr7:100965537-100965556
31	SP1	chr7:100964781-100965626	A549	lung:	n/a	n/a
32	POLR2A	chr7:100964547-100965535	H1-neurons	neurons:	n/a	n/a
33	SIN3A	chr7:100964758-100965470	GM12878	blood:	n/a	n/a
34	POLR2A	chr7:100964845-100965353	GM12878	blood:	n/a	n/a
35	TAF1	chr7:100964953-100965334	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr7:100964862-100965448	SK-N-MC	brain:	n/a	n/a
37	ELK4	chr7:100964868-100965494	Hela-S3	cervix:	n/a	chr7:100965115-100965124 chr7:100965113-100965124
38	POLR2A	chr7:100964653-100965525	U87	brain:	n/a	n/a
39	RUNX3	chr7:100964662-100965602	GM12878	blood:	n/a	n/a
40	POLR2A	chr7:100964809-100965368	A549	lung:	n/a	n/a
41	TAF1	chr7:100964820-100965413	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr7:100964879-100965398	GM15510	blood:	n/a	n/a
43	REST	chr7:100965047-100965464	A549	lung:	n/a	n/a
44	POLR2A	chr7:100964918-100965381	GM10847	blood:	n/a	n/a
45	POLR2A	chr7:100964825-100965433	U87	brain:	n/a	n/a
46	ELF1	chr7:100964854-100965748	MCF-7	breast:	n/a	chr7:100965114-100965127
47	REST	chr7:100964864-100965648	A549	lung:	n/a	n/a
48	POLR2A	chr7:100964901-100965399	HepG2	liver:	n/a	n/a
49	MAX	chr7:100964899-100965393	NB4	blood:	n/a	chr7:100964918-100964928
50	POLR2A	chr7:100964890-100965398	GM18505	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:100965274-100965324	ECC-1	luminal epithelium:	n/a
2	chr7:100965274-100965324	GM12892	blood:	n/a
3	chr7:100965274-100965324	HRCEpiC	kidney:	n/a
4	chr7:100965274-100965324	GM06990	blood:	n/a
5	chr7:100965274-100965324	ovcar-3	ovarian:	n/a
6	chr7:100965274-100965324	MCF10A-Er-Src	breast:	n/a
7	chr7:100965274-100965324	HUVEC	blood vessel:	n/a
8	chr7:100965274-100965324	SK-N-SH	brain:	n/a
9	chr7:100965274-100965324	U87	brain:	n/a
10	chr7:100965274-100965324	AG04449	skin:	fetal
11	chr7:100965274-100965324	BE2_C	brain:	n/a
12	chr7:100965274-100965324	HEK293	kidney:	embryo
13	chr7:100965274-100965324	HIPEpiC	eye:	n/a
14	chr7:100965274-100965324	HCPEpiC	choroid plexus:	n/a
15	chr7:100965274-100965324	NHDF-neo	bronchial:	n/a
16	chr7:100965274-100965324	CMK	blood:	n/a
17	chr7:100965274-100965324	HAEpiC	amniotic membrane:	n/a
18	chr7:100965274-100965324	MCF-7	breast:	n/a
19	chr7:100965274-100965324	NB4	blood:	n/a
20	chr7:100965274-100965324	PANC-1	pancreas:	n/a
21	chr7:100965274-100965324	SK-N-MC	brain:	n/a
22	chr7:100965274-100965324	K562	blood:	n/a
23	chr7:100965274-100965324	HL-60	blood:	n/a
24	chr7:100965274-100965324	NHBE	bronchial:	n/a
25	chr7:100965274-100965324	RPTEC	kidney:	n/a
26	chr7:100965274-100965324	BJ	skin:	n/a
27	chr7:100965274-100965324	AG04450	lung:	fetal
28	chr7:100965274-100965324	HCT-116	colon:	n/a
29	chr7:100965274-100965324	NH-A	brain:	n/a
30	chr7:100965274-100965324	SKMC	muscle:	n/a
31	chr7:100965274-100965324	T-47D	breast:	n/a
32	chr7:100965274-100965324	HepG2	liver:	n/a
33	chr7:100965274-100965324	HRE	kidney:	n/a
34	chr7:100965274-100965324	HCF	heart:	n/a
35	chr7:100965274-100965324	GM12878	blood:	n/a
36	chr7:100965274-100965324	AG09309	skin:	n/a
37	chr7:100965274-100965324	SK-N-SH_RA	brain:	n/a
38	chr7:100965274-100965324	PFSK-1	brain:	n/a
39	chr7:100965274-100965324	LNCaP	prostate:	n/a
40	chr7:100965274-100965324	GM12891	blood:	n/a
41	chr7:100965274-100965324	HPAEpiC	pulmonary alveolar:	n/a
42	chr7:100965274-100965324	HCM	heart:	n/a
43	chr7:100965274-100965324	HRPEpiC	eye:	n/a
44	chr7:100965274-100965324	GM19239	blood:	n/a
45	chr7:100965274-100965324	PrEC	prostate:	n/a
46	chr7:100965274-100965324	AG09319	gingival:	n/a
47	chr7:100965274-100965324	AoSMC	blood vessel:	n/a
48	chr7:100965274-100965324	ProgFib	skin:	n/a
49	chr7:100965274-100965324	IMR90	lung:	fetal
50	chr7:100965274-100965324	H1-hESC	embryonic stem cell:	embryo

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

No.	Distal block	Cell Line	Cell type
1	chr7:100965037..100965724-chr9:89562019..89562831,2	Hela-S3	cervix:
2	chr15:65596698..65597638-chr7:100964826..100965617,2	HCT-116	colon:
3	chr7:100941519..100944089-chr7:100963395..100965508,2	K562	blood:
4	chr7:100950840..100954191-chr7:100963498..100966604,5	MCF-7	breast:
5	chr7:100964710..100967141-chr7:101003077..101007417,4	MCF-7	breast:

No data

Variant related genes	Relation type
RABL5	TF binding region
RABL5	CpG island
ENSG00000160963	Chromatin interaction
ENSG00000232445	Chromatin interaction
ENSG00000200156	Chromatin interaction
ENSG00000232301	Chromatin interaction
ENSG00000180447	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs11544858	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13223799	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13225720	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13234919	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13235206	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13236755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236818	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13237170	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13240188	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13240202	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13241096	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13241519	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13241528	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13243964	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2410815	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2410818	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34048830	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34077348	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34169259	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34170365	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34306578	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34331244	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34434188	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34522084	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34530598	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34532455	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34579827	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34679185	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34714336	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34761081	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34872936	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35259540	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs35401614	0.99[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35427616	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35594069	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs35614350	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35642062	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35653054	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35710113	0.94[AFR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35724850	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35751380	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35757856	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35785259	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35811165	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35835570	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36005187	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36060097	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36079227	0.99[AFR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56730418	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60697114	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66621600	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66711003	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67002599	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67502950	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67562697	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs67736913	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67922522	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67927345	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68015521	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6968925	1.00[ASN][1000 genomes]
rs6968930	1.00[ASN][1000 genomes]
rs71540926	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71557300	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71557302	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71559403	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71559404	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71559406	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73410736	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7781222	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7791799	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs868145	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9691191	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9692578	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
3	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv464651	chr7:100792810-100971604	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv607974	chr7:100792810-100971604	Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv429788	chr7:100799565-101178565	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
7	esv2752134	chr7:100800131-101141867	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv831076	chr7:100828847-101011674	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	esv2422326	chr7:100833449-101000131	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv607978	chr7:100861213-100971604	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
11	nsv831077	chr7:100874209-101083930	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
12	nsv1023393	chr7:100904333-101102046	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
13	esv2752135	chr7:100932330-101135565	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	esv2752136	chr7:100932330-101143259	Genic enhancers Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv1017098	chr7:100935631-101117541	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv539042	chr7:100935631-101117541	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	esv2752137	chr7:100938008-101135398	ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	nsv1028170	chr7:100958058-101117541	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
19	nsv539043	chr7:100958058-101117541	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
20	nsv517175	chr7:100960550-101138286	Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS 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
21	nsv1034896	chr7:100961416-101135398	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
22	nsv1019056	chr7:100961416-101137314	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
23	nsv1024423	chr7:100963863-101128424	Enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
24	nsv1033659	chr7:100963863-101135398	Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
25	nsv1018124	chr7:100963863-101137314	Enhancers Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34541954	RP11-132A1.4	cis	Esophagus Mucosa	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100964000-100965400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:100964000-100965600	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr7:100964000-100965600	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr7:100964000-100965600	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr7:100964000-100965600	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr7:100964000-100965800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:100964000-100965800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr7:100964000-100966000	Active TSS	H1 Cell Line	embryonic stem cell
9	chr7:100964000-100966000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr7:100964200-100965400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:100964200-100965400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
12	chr7:100964200-100965400	Active TSS	GM12878-XiMat	blood
13	chr7:100964200-100965600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:100964200-100965600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr7:100964200-100965600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr7:100964200-100965600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:100964200-100965600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:100964200-100965600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:100964200-100965600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr7:100964200-100965600	Active TSS	Fetal Kidney	kidney
21	chr7:100964200-100965600	Active TSS	Ovary	ovary
22	chr7:100964200-100965600	Active TSS	Hela-S3	cervix
23	chr7:100964200-100965600	Active TSS	HMEC	breast
24	chr7:100964200-100965600	Active TSS	HSMM	muscle
25	chr7:100964200-100965800	Active TSS	HUES48 Cell Line	embryonic stem cell
26	chr7:100964200-100965800	Active TSS	Primary T cells from cord blood	blood
27	chr7:100964200-100965800	Active TSS	Fetal Brain Female	brain
28	chr7:100964200-100965800	Active TSS	Rectal Smooth Muscle	rectum
29	chr7:100964200-100966000	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr7:100964200-100966000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:100964400-100965400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:100964400-100965400	Active TSS	Fetal Heart	heart
33	chr7:100964400-100965400	Active TSS	Fetal Intestine Small	intestine
34	chr7:100964400-100965400	Active TSS	Rectal Mucosa Donor 31	rectum
35	chr7:100964400-100965400	Active TSS	Stomach Mucosa	stomach
36	chr7:100964400-100965400	Active TSS	NHEK	skin
37	chr7:100964400-100965400	Active TSS	Osteobl	bone
38	chr7:100964400-100965600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:100964400-100965600	Active TSS	iPS-18 Cell Line	embryonic stem cell
40	chr7:100964400-100965600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:100964400-100965600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr7:100964400-100965600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr7:100964400-100965600	Active TSS	Brain Hippocampus Middle	brain
44	chr7:100964400-100965600	Active TSS	Brain Substantia Nigra	brain
45	chr7:100964400-100965600	Active TSS	HSMMtube	muscle
46	chr7:100964400-100965600	Active TSS	NHDF-Ad	bronchial
47	chr7:100964400-100965600	Active TSS	NHLF	lung
48	chr7:100964400-100965800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr7:100964400-100965800	Active TSS	Breast Myoepithelial Primary Cells	Breast
50	chr7:100964400-100965800	Active TSS	Fetal Intestine Large	intestine

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