Variant report

Variant	rs10251718
Chromosome Location	chr7:7680632-7680633
allele	G/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	POLR2A	chr7:7679078-7681429	HepG2	liver:	n/a	n/a
2	POU2F2	chr7:7679701-7680956	GM12878	blood:	n/a	chr7:7679901-7679913
3	ZBTB33	chr7:7680193-7680721	K562	blood:	n/a	chr7:7680456-7680471
4	CHD2	chr7:7679821-7681280	K562	blood:	n/a	n/a
5	TAF1	chr7:7680344-7680792	GM12891	blood:	n/a	n/a
6	POLR2A	chr7:7679589-7680817	PFSK-1	brain:	n/a	n/a
7	EGR1	chr7:7679793-7681078	HCT-116	colon:	n/a	chr7:7680614-7680628 chr7:7680616-7680626 chr7:7680615-7680626 chr7:7679837-7679850 chr7:7680311-7680324 chr7:7680615-7680626 chr7:7680243-7680252 chr7:7680616-7680626
8	CTCF	chr7:7680608-7680638	MCF-7	breast:	n/a	n/a
9	SIN3AK20	chr7:7679772-7680872	A549	lung:	n/a	n/a
10	MAX	chr7:7679672-7680703	HepG2	liver:	n/a	n/a
11	CEBPB	chr7:7679844-7680702	K562	blood:	n/a	n/a
12	BCL3	chr7:7680266-7680826	A549	lung:	n/a	n/a
13	GABPA	chr7:7679474-7681187	MCF-7	breast:	n/a	chr7:7680866-7680880
14	CHD2	chr7:7679573-7681141	Hela-S3	cervix:	n/a	n/a
15	ATF2	chr7:7679724-7680648	H1-hESC	embryonic stem cell:	n/a	n/a
16	CREB1	chr7:7679818-7680916	K562	blood:	n/a	n/a
17	YY1	chr7:7679755-7680723	ECC-1	luminal epithelium:	n/a	n/a
18	YY1	chr7:7679696-7680734	GM12892	blood:	n/a	n/a
19	POLR2A	chr7:7680252-7680763	U87	brain:	n/a	n/a
20	USF1	chr7:7679903-7680796	SK-N-SH	brain:	n/a	n/a
21	GABPA	chr7:7679926-7680676	HepG2	liver:	n/a	n/a
22	E2F4	chr7:7679659-7681013	Hela-S3	cervix:	n/a	chr7:7679772-7679783 chr7:7679769-7679786 chr7:7679776-7679783 chr7:7679769-7679786 chr7:7680071-7680082 chr7:7680622-7680631
23	GATA3	chr7:7679923-7680878	T-47D	breast:	n/a	n/a
24	SMARCC1	chr7:7679092-7681404	Hela-S3	cervix:	n/a	n/a
25	EBF1	chr7:7679983-7680688	GM12878	blood:	n/a	n/a
26	EGR1	chr7:7680223-7681051	K562	blood:	n/a	chr7:7680614-7680628 chr7:7680616-7680626 chr7:7680615-7680626 chr7:7680311-7680324 chr7:7680615-7680626 chr7:7680243-7680252 chr7:7680616-7680626
27	MXI1	chr7:7679855-7680692	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr7:7678812-7681214	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr7:7679266-7681091	GM18951	blood:	n/a	n/a
30	MAFK	chr7:7679337-7681481	Hela-S3	cervix:	n/a	chr7:7679735-7679746 chr7:7681124-7681133 chr7:7681140-7681155 chr7:7679683-7679700 chr7:7681123-7681133
31	TAF1	chr7:7679437-7680760	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr7:7679081-7680950	PANC-1	pancreas:	n/a	n/a
33	SP1	chr7:7679909-7680846	H1-hESC	embryonic stem cell:	n/a	chr7:7680332-7680343
34	PBX3	chr7:7679789-7680752	A549	lung:	n/a	n/a
35	HEY1	chr7:7679745-7681126	HepG2	liver:	n/a	n/a
36	TAL1	chr7:7679932-7680768	K562	blood:	n/a	n/a
37	POLR2A	chr7:7679333-7680707	HUVEC	blood vessel:	n/a	n/a
38	MAX	chr7:7679392-7681227	MCF-7	breast:	n/a	n/a
39	MYC	chr7:7679205-7680982	NB4	blood:	n/a	n/a
40	POLR2A	chr7:7679481-7681387	K562	blood:	n/a	n/a
41	POLR2A	chr7:7679451-7681228	HepG2	liver:	n/a	n/a
42	POLR2A	chr7:7679505-7680748	HCT-116	colon:	n/a	n/a
43	NR2C2	chr7:7680186-7680855	HepG2	liver:	n/a	n/a
44	ETS1	chr7:7679731-7680729	GM12878	blood:	n/a	chr7:7680244-7680254 chr7:7680243-7680252 chr7:7680282-7680293 chr7:7680243-7680252 chr7:7680283-7680293 chr7:7680282-7680291
45	POLR2A	chr7:7680289-7680720	A549	lung:	n/a	n/a
46	EP300	chr7:7679492-7681010	GM12878	blood:	n/a	chr7:7680283-7680290 chr7:7680244-7680251
47	HEY1	chr7:7679381-7681123	K562	blood:	n/a	n/a
48	GATA3	chr7:7679759-7680957	A549	lung:	n/a	n/a
49	CEBPB	chr7:7680023-7680675	HepG2	liver:	n/a	n/a
50	ZNF143	chr7:7679503-7680861	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:52447172..52448025-chr7:7679986..7680652,2	Hela-S3	cervix:
2	chr7:7603046..7608569-chr7:7677123..7682101,8	MCF-7	breast:
3	chr17:62502252..62503126-chr7:7679849..7680803,2	Hela-S3	cervix:
4	chr7:7679018..7681584-chr7:8008760..8011156,4	K562	blood:
5	chr11:65190262..65191059-chr7:7679930..7680646,2	Hela-S3	cervix:
6	chr7:7673907..7678610-chr7:7678691..7681851,6	MCF-7	breast:
7	chr2:190649071..190649611-chr7:7679917..7680683,2	Hela-S3	cervix:
8	chr7:7605040..7608458-chr7:7677009..7681661,8	K562	blood:
9	chr13:52026904..52027759-chr7:7680258..7680839,2	Hela-S3	cervix:
10	chr2:240322904..240323542-chr7:7680267..7680816,2	Hela-S3	cervix:
11	chr7:7605830..7608267-chr7:7679102..7681869,5	MCF-7	breast:
12	chr6:133135261..133136170-chr7:7680235..7681119,2	Hela-S3	cervix:
13	chr7:7672448..7678421-chr7:7678475..7681557,8	K562	blood:
14	chr7:7678479..7681346-chr7:8300009..8302111,2	K562	blood:
15	chr5:39074257..39074976-chr7:7680101..7680852,2	Hela-S3	cervix:

Variant related genes	Relation type
RPA3	TF binding region
ENSG00000229970	Chromatin interaction
ENSG00000164654	Chromatin interaction
ENSG00000233108	Chromatin interaction
ENSG00000106415	Chromatin interaction
ENSG00000258890	Chromatin interaction
ENSG00000102786	Chromatin interaction
ENSG00000244239	Chromatin interaction
ENSG00000272894	Chromatin interaction
ENSG00000068024	Chromatin interaction
ENSG00000236778	Chromatin interaction
ENSG00000128699	Chromatin interaction
ENSG00000106399	Chromatin interaction
ENSG00000123358	Chromatin interaction
ENSG00000222020	Chromatin interaction
ENSG00000112306	Chromatin interaction
ENSG00000164327	Chromatin interaction
ENSG00000245532	Chromatin interaction
ENSG00000064933	Chromatin interaction
ENSG00000108654	Chromatin interaction
ENSG00000003147	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10234567	1.00[CHD][hapmap]
rs12702633	1.00[JPT][hapmap]
rs13225575	1.00[JPT][hapmap]
rs13227682	1.00[JPT][hapmap]
rs17137697	1.00[CHD][hapmap]
rs17169196	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs17524233	1.00[JPT][hapmap]
rs17547731	1.00[JPT][hapmap]
rs2024374	1.00[JPT][hapmap]
rs28914836	1.00[ASN][1000 genomes]
rs28916005	1.00[JPT][hapmap]
rs28916280	1.00[CHD][hapmap]
rs28916295	1.00[CEU][hapmap]
rs6463702	1.00[JPT][hapmap]
rs6962939	1.00[JPT][hapmap]
rs6964593	1.00[JPT][hapmap]
rs6974820	1.00[JPT][hapmap]
rs6980052	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7787580	1.00[JPT][hapmap]
rs7789164	1.00[JPT][hapmap]
rs7793870	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949293	chr7:6990891-7711883	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
2	nsv1026758	chr7:7187491-8075259	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv887472	chr7:7405069-7680697	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv606042	chr7:7427535-7876466	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv887476	chr7:7519603-7680697	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv887477	chr7:7531819-7810122	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
7	nsv1032670	chr7:7535515-8017077	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	nsv8043	chr7:7589195-7862802	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
9	nsv1034199	chr7:7617835-7691176	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
10	nsv606044	chr7:7652372-7727101	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
11	nsv887478	chr7:7670718-7917360	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7678600-7681200	Active TSS	HMEC	breast
2	chr7:7678800-7681200	Active TSS	A549	lung
3	chr7:7678800-7681400	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr7:7678800-7681400	Active TSS	K562	blood
5	chr7:7678800-7681600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr7:7679000-7680800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr7:7679000-7681000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:7679000-7681000	Active TSS	Brain Anterior Caudate	brain
9	chr7:7679000-7681000	Active TSS	Fetal Kidney	kidney
10	chr7:7679000-7681000	Active TSS	NH-A	brain
11	chr7:7679000-7681200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:7679000-7681200	Active TSS	Brain Angular Gyrus	brain
13	chr7:7679000-7681200	Active TSS	Fetal Muscle Trunk	muscle
14	chr7:7679000-7681200	Active TSS	Psoas Muscle	Psoas
15	chr7:7679000-7681200	Active TSS	GM12878-XiMat	blood
16	chr7:7679000-7681400	Active TSS	HUES48 Cell Line	embryonic stem cell
17	chr7:7679000-7681400	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr7:7679000-7681400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr7:7679000-7681400	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr7:7679000-7681400	Active TSS	NHLF	lung
21	chr7:7679000-7681600	Active TSS	H1 Cell Line	embryonic stem cell
22	chr7:7679000-7681600	Active TSS	H9 Cell Line	embryonic stem cell
23	chr7:7679000-7681600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:7679000-7681600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:7679000-7681600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr7:7679000-7681800	Active TSS	ES-I3 Cell Line	embryonic stem cell
27	chr7:7679000-7682000	Active TSS	Fetal Intestine Small	intestine
28	chr7:7679200-7681000	Active TSS	Colon Smooth Muscle	Colon
29	chr7:7679200-7681000	Active TSS	Fetal Intestine Large	intestine
30	chr7:7679200-7681000	Active TSS	HSMM	muscle
31	chr7:7679200-7681200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr7:7679200-7681200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr7:7679200-7681200	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr7:7679200-7681200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:7679200-7681200	Active TSS	Muscle Satellite Cultured Cells	--
36	chr7:7679200-7681200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:7679200-7681200	Active TSS	Lung	lung
38	chr7:7679200-7681200	Active TSS	NHDF-Ad	bronchial
39	chr7:7679200-7681400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:7679200-7681400	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr7:7679200-7681400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr7:7679200-7681400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:7679200-7681400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr7:7679200-7681400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:7679200-7681400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr7:7679200-7681400	Active TSS	Esophagus	oesophagus
47	chr7:7679200-7681400	Active TSS	Ovary	ovary
48	chr7:7679200-7681400	Active TSS	Stomach Mucosa	stomach
49	chr7:7679200-7681400	Active TSS	HSMMtube	muscle
50	chr7:7679200-7681600	Active TSS	Right Atrium	heart

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