Variant report

Variant	rs2406253
Chromosome Location	chr7:100077273-100077274
allele	C/T
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	TAF1	chr7:100076531-100077319	ECC-1	luminal epithelium:	n/a	n/a
2	TAF1	chr7:100076670-100077349	H1-neurons	neurons:	n/a	n/a
3	MAX	chr7:100076528-100077388	MCF-7	breast:	n/a	n/a
4	ZNF263	chr7:100076435-100077282	K562	blood:	n/a	chr7:100077126-100077135 chr7:100076908-100076929 chr7:100076884-100076905
5	SIN3AK20	chr7:100076464-100077430	SK-N-SH	brain:	n/a	n/a
6	MAZ	chr7:100073553-100077555	IMR90	lung:	n/a	chr7:100074325-100074335 chr7:100076332-100076342
7	POLR2A	chr7:100077107-100077360	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr7:100076561-100077360	K562	blood:	n/a	n/a
9	NFIC	chr7:100076517-100077349	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr7:100077079-100077340	H1-hESC	embryonic stem cell:	n/a	n/a
11	ELF1	chr7:100074726-100077360	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:100076627-100077373	HepG2	liver:	n/a	n/a
13	POLR2A	chr7:100076430-100077454	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr7:100076426-100077465	GM12892	blood:	n/a	n/a
15	POLR2A	chr7:100076503-100077399	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr7:100076512-100077404	SK-N-MC	brain:	n/a	n/a
17	ZBTB7A	chr7:100076208-100077309	ECC-1	luminal epithelium:	n/a	chr7:100076222-100076230
18	MXI1	chr7:100075584-100077424	IMR90	lung:	n/a	chr7:100077301-100077316
19	TBP	chr7:100076642-100077381	Hela-S3	cervix:	n/a	n/a
20	PML	chr7:100076509-100077424	K562	blood:	n/a	n/a
21	POLR2A	chr7:100076628-100077394	HCT-116	colon:	n/a	n/a
22	IRF1	chr7:100076685-100077296	K562	blood:	n/a	chr7:100076812-100076822 chr7:100077103-100077117
23	POLR2A	chr7:100076577-100077413	NB4	blood:	n/a	n/a
24	SIN3AK20	chr7:100075829-100077307	K562	blood:	n/a	n/a
25	GABPA	chr7:100076534-100077311	SK-N-SH	brain:	n/a	chr7:100077104-100077113
26	TAF1	chr7:100077047-100077302	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr7:100076239-100077513	HepG2	liver:	n/a	n/a
28	POLR2A	chr7:100076577-100077404	HCT-116	colon:	n/a	n/a
29	POLR2A	chr7:100075955-100077304	GM12878	blood:	n/a	n/a
30	POLR2A	chr7:100076604-100077345	K562	blood:	n/a	n/a
31	MXI1	chr7:100076623-100077315	GM12878	blood:	n/a	n/a
32	POLR2A	chr7:100076562-100077316	H1-neurons	neurons:	n/a	n/a
33	ELF1	chr7:100076340-100077409	MCF-7	breast:	n/a	n/a
34	POLR2A	chr7:100076575-100077395	GM19099	blood:	n/a	n/a
35	TAF1	chr7:100076573-100077274	A549	lung:	n/a	n/a
36	MAX	chr7:100076446-100077318	GM12878	blood:	n/a	n/a
37	POLR2A	chr7:100077186-100077386	MCF10A-Er-Src	breast:	n/a	n/a
38	RELA	chr7:100076634-100077347	GM12891	blood:	n/a	n/a
39	TAF1	chr7:100077063-100077332	HepG2	liver:	n/a	n/a
40	POLR2A	chr7:100075938-100077383	GM12892	blood:	n/a	n/a
41	REST	chr7:100076662-100077356	SK-N-SH	brain:	n/a	chr7:100077101-100077114 chr7:100076957-100076970
42	TAF7	chr7:100076725-100077378	H1-hESC	embryonic stem cell:	n/a	n/a
43	RELA	chr7:100076590-100077407	GM15510	blood:	n/a	n/a
44	POLR2A	chr7:100076581-100077361	MCF10A-Er-Src	breast:	n/a	n/a
45	MTA3	chr7:100076462-100077481	GM12878	blood:	n/a	n/a
46	TCF12	chr7:100076454-100077315	ECC-1	luminal epithelium:	n/a	chr7:100076955-100076962 chr7:100077095-100077105 chr7:100076953-100076960 chr7:100076954-100076964
47	STAT5A	chr7:100076485-100077432	GM12878	blood:	n/a	chr7:100076847-100076854
48	TBP	chr7:100076638-100077349	GM12878	blood:	n/a	n/a
49	POLR2A	chr7:100076350-100077450	PFSK-1	brain:	n/a	n/a
50	POLR2A	chr7:100076467-100077415	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:100074425..100078694-chr7:100079448..100083758,11	K562	blood:
2	chr7:100025583..100035841-chr7:100071553..100080023,19	MCF-7	breast:
3	chr7:100075297..100078487-chr7:100182577..100184592,4	MCF-7	breast:
4	chr7:100073820..100078843-chr7:100079329..100083762,6	MCF-7	breast:
5	chr7:100076505..100078117-chr7:100271085..100273455,2	K562	blood:
6	chr7:100075021..100078361-chr7:100180649..100185937,5	MCF-7	breast:
7	chr7:100075632..100078427-chr7:100182362..100185442,6	K562	blood:
8	chr7:100024700..100032514-chr7:100067180..100083143,31	K562	blood:
9	chr7:100076149..100078056-chr7:100145849..100148358,2	MCF-7	breast:
10	chr7:100022010..100030260-chr7:100068697..100082544,31	K562	blood:
11	chr7:100075509..100078207-chr7:100182258..100185575,5	K562	blood:
12	chr7:100024981..100028086-chr7:100074705..100078040,4	MCF-7	breast:
13	chr7:100074273..100077650-chr7:100135969..100140252,4	MCF-7	breast:
14	chr7:100076419..100078761-chr7:100175635..100177478,2	K562	blood:

Variant related genes	Relation type
NYAP1	TF binding region
TSC22D4	TF binding region
ENSG00000106336	Chromatin interaction
ENSG00000240211	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000172354	Chromatin interaction
ENSG00000166924	Chromatin interaction
ENSG00000106351	Chromatin interaction
ENSG00000160813	Chromatin interaction
ENSG00000266372	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000241357	Chromatin interaction
ENSG00000077454	Chromatin interaction

Extended variants
information (count: 93 )
Associated
traits (count: 53 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1000215	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap]
rs10085549	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[MKK][hapmap]
rs10241492	1.00[CEU][hapmap]
rs1073	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[ASN][1000 genomes]
rs11559117	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11760536	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11761253	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs11761426	0.85[CEU][hapmap]
rs11761624	1.00[ASN][1000 genomes]
rs11761725	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap];1.00[ASN][1000 genomes]
rs11761784	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap];1.00[ASN][1000 genomes]
rs11763414	1.00[CEU][hapmap]
rs11763511	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11764818	1.00[ASN][1000 genomes]
rs11765869	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs11766202	1.00[ASN][1000 genomes]
rs11766752	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11769057	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs11769700	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11769886	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap]
rs11771241	1.00[CEU][hapmap]
rs11771419	1.00[CEU][hapmap]
rs11772580	1.00[ASN][1000 genomes]
rs11773661	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1962269	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406255	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs28490152	1.00[CEU][hapmap];1.00[CHD][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.95[TSI][hapmap]
rs28578163	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap]
rs28629346	1.00[ASN][1000 genomes]
rs2897358	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34989573	0.93[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35111986	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap]
rs3900792	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[MEX][hapmap];0.95[TSI][hapmap]
rs4074838	0.93[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[ASN][1000 genomes]
rs4385401	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4463351	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4469386	1.00[ASN][1000 genomes]
rs4472444	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4989959	1.00[ASN][1000 genomes]
rs60257855	1.00[ASN][1000 genomes]
rs60478351	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60644673	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60844404	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66648318	1.00[ASN][1000 genomes]
rs66958101	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67040465	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs67196635	1.00[ASN][1000 genomes]
rs67239991	1.00[ASN][1000 genomes]
rs67483801	1.00[ASN][1000 genomes]
rs67885733	1.00[ASN][1000 genomes]
rs6945952	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs6946768	1.00[GIH][hapmap]
rs6948685	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs6948699	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6953107	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955362	1.00[CEU][hapmap];0.83[CHD][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6955367	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[MKK][hapmap]
rs6962151	1.00[ASN][1000 genomes]
rs6965458	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs6972167	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6974286	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975514	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975729	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];1.00[ASN][1000 genomes]
rs6978739	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6979335	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6979910	0.85[CEU][hapmap]
rs705866	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap]
rs73405353	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7341507	0.85[CEU][hapmap]
rs7783159	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.95[TSI][hapmap]
rs7783550	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs7787620	0.86[ASW][hapmap];0.92[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];0.80[MKK][hapmap];0.89[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7787825	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7792525	0.85[CEU][hapmap]
rs7792959	0.85[CEU][hapmap]
rs7794485	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7800667	1.00[ASN][1000 genomes]
rs7809801	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.95[TSI][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7811142	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers 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 miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases
4	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
5	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
6	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
7	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
8	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised 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	81 gene(s)	inside rSNPs	diseases
9	nsv984550	chr7:100034415-100080060	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv527050	chr7:100056166-100125975	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
11	nsv888781	chr7:100060928-100097895	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
12	nsv888782	chr7:100064719-100236593	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
13	nsv888783	chr7:100073292-100136241	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
14	nsv888784	chr7:100076614-100097895	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:53)

SNP	Gene	Cis/trans	Tissue	Source
rs2406253	CNPY4	cis	cerebellum	SCAN
rs2406253	STAG3	cis	lymphoblastoid	seeQTL
rs2406253	PVRIG2P	cis	Thyroid	GTEx
rs2406253	PILRA	cis	Adipose Subcutaneous	GTEx
rs2406253	PILRB	cis	Heart Left Ventricle	GTEx
rs2406253	PILRA	cis	Skin Sun Exposed Lower leg	GTEx
rs2406253	PILRA	cis	Artery Aorta	GTEx
rs2406253	STAG3L5P	cis	Nerve Tibial	GTEx
rs2406253	STAG3L5P	cis	Artery Tibial	GTEx
rs2406253	GATS	cis	parietal	SCAN
rs2406253	PMS2P1	cis	Thyroid	GTEx
rs2406253	PVRIG2P	cis	Artery Tibial	GTEx
rs2406253	PILRB	cis	Artery Tibial	GTEx
rs2406253	STAG3L5P	cis	Stomach	GTEx
rs2406253	PILRA	cis	Esophagus Mucosa	GTEx
rs2406253	PVRIG	cis	cerebellum	SCAN
rs2406253	PILRA	cis	Artery Tibial	GTEx
rs2406253	PILRB	cis	Artery Aorta	GTEx
rs2406253	PILRB	Cis_1M	lymphoblastoid	RTeQTL
rs2406253	STAG3L5P	cis	lung	GTEx
rs2406253	PILRB	cis	Adipose Subcutaneous	GTEx
rs2406253	STAG3L5P	cis	Esophagus Muscularis	GTEx
rs2406253	STAG3L5P	cis	Esophagus Mucosa	GTEx
rs2406253	PILRB	cis	Nerve Tibial	GTEx
rs2406253	PILRB	cis	Esophagus Mucosa	GTEx
rs2406253	STAG3L5P	cis	Thyroid	GTEx
rs2406253	PILRB	cis	Skin Sun Exposed Lower leg	GTEx
rs2406253	PILRB	cis	parietal	SCAN
rs2406253	GNB2	cis	parietal	SCAN
rs2406253	PILRA	cis	Muscle Skeletal	GTEx
rs2406253	STAG3L5P	cis	Artery Aorta	GTEx
rs2406253	PILRB	cis	Muscle Skeletal	GTEx
rs2406253	PVRIG2P	cis	Esophagus Mucosa	GTEx
rs2406253	PILRB	cis	Whole Blood	GTEx
rs2406253	STAG3L5P	cis	Heart Left Ventricle	GTEx
rs2406253	ZCWPW1	cis	cerebellum	SCAN
rs2406253	ZCWPW1	cis	parietal	SCAN
rs2406253	PILRB	cis	Esophagus Muscularis	GTEx
rs2406253	PILRB	cis	Thyroid	GTEx
rs2406253	PILRA	cis	Thyroid	GTEx
rs2406253	PILRB	cis	multi-tissue	Pritchard
rs2406253	PILRA	cis	Heart Left Ventricle	GTEx
rs2406253	STAG3L5P	cis	Skin Sun Exposed Lower leg	GTEx
rs2406253	PVRIG	Cis_1M	lymphoblastoid	RTeQTL
rs2406253	PILRB	cis	cerebellum	SCAN
rs2406253	STAG3L5P	cis	Adipose Subcutaneous	GTEx
rs2406253	PILRA	cis	Esophagus Muscularis	GTEx
rs2406253	PILRA	cis	cerebellum	SCAN
rs2406253	PILRA	cis	Nerve Tibial	GTEx
rs2406253	STAG3L5P	cis	Muscle Skeletal	GTEx
rs2406253	PILRB	cis	lung	GTEx
rs2406253	PILRA	cis	parietal	SCAN
rs2406253	PVRIG2P	cis	lung	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100074000-100077400	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr7:100074800-100077400	Active TSS	HSMMtube	muscle
3	chr7:100075000-100077400	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr7:100075000-100077400	Active TSS	HSMM	muscle
5	chr7:100075200-100077400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr7:100075200-100077400	Active TSS	Aorta	Aorta
7	chr7:100075200-100077400	Active TSS	Psoas Muscle	Psoas
8	chr7:100075400-100077400	Active TSS	Esophagus	oesophagus
9	chr7:100075400-100077400	Active TSS	Right Atrium	heart
10	chr7:100075600-100077400	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr7:100075600-100077400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:100075600-100077400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr7:100076200-100077600	Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr7:100076200-100077600	Flanking Active TSS	Fetal Brain Male	brain
15	chr7:100076400-100077600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:100076400-100077600	Active TSS	Fetal Brain Female	brain
17	chr7:100076600-100077400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:100076600-100077400	Flanking Active TSS	Liver	Liver
19	chr7:100076800-100077400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:100076800-100077400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr7:100076800-100077400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:100076800-100077400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:100076800-100077400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
24	chr7:100076800-100080400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr7:100077000-100077400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:100077000-100077400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:100077000-100077400	Flanking Active TSS	Primary B cells from peripheral blood	blood
28	chr7:100077000-100077400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:100077000-100077400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr7:100077000-100077400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr7:100077000-100077400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
32	chr7:100077000-100077400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
33	chr7:100077000-100077400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr7:100077000-100077400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr7:100077000-100077400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
36	chr7:100077000-100077400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
37	chr7:100077000-100077400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr7:100077000-100077400	Flanking Active TSS	Brain Hippocampus Middle	brain
39	chr7:100077000-100077400	Flanking Active TSS	Colonic Mucosa	Colon
40	chr7:100077000-100077400	Flanking Active TSS	Duodenum Mucosa	Duodenum
41	chr7:100077000-100077400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr7:100077000-100077400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
43	chr7:100077000-100077400	Flanking Active TSS	Fetal Stomach	stomach
44	chr7:100077000-100077400	Enhancers	NHDF-Ad	bronchial
45	chr7:100077000-100077400	Enhancers	NHEK	skin
46	chr7:100077000-100077600	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr7:100077000-100077600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
48	chr7:100077000-100077600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr7:100077000-100077600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr7:100077000-100077600	Flanking Active TSS	Adipose Nuclei	Adipose

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