Variant report

Variant	rs7809323
Chromosome Location	chr7:7143583-7143584
allele	A/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	SMC3	chr7:7142585-7143727	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr7:7143578-7143593	MCF-7	breast:	n/a	n/a
3	UBTF	chr7:7143112-7144288	K562	blood:	n/a	n/a
4	RAD21	chr7:7142879-7143686	HepG2	liver:	n/a	chr7:7143182-7143201
5	GATA1	chr7:7142699-7144980	PBDE	blood:	n/a	chr7:7144159-7144168
6	CTCF	chr7:7143500-7143650	GM12870	blood:	n/a	n/a
7	E2F6	chr7:7143553-7143689	K562	blood:	n/a	n/a
8	CTCF	chr7:7143520-7143670	GM12865	blood:	n/a	n/a
9	POLR2A	chr7:7143537-7144217	K562	blood:	n/a	n/a
10	GATA1	chr7:7143485-7145599	K562	blood:	n/a	chr7:7144159-7144168
11	ZNF384	chr7:7143016-7144219	K562	blood:	n/a	n/a
12	E2F6	chr7:7143482-7144203	K562	blood:	n/a	n/a
13	CTCF	chr7:7143440-7143590	SK-N-SH_RA	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:7143123..7143712-chr7:7389680..7390354,2	MCF-7	breast:
2	chr7:7142758..7143661-chr7:7580812..7581638,2	MCF-7	breast:
3	chr7:7138712..7144572-chr7:7219459..7223789,7	K562	blood:
4	chr7:7142761..7143623-chr7:7463315..7464213,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000201218	TF binding region
ENSG00000106392	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1160673	0.88[ASN][1000 genomes]
rs1432195	0.88[ASN][1000 genomes]
rs1594576	0.88[ASN][1000 genomes]
rs2060162	0.88[ASN][1000 genomes]
rs2064048	0.88[ASN][1000 genomes]
rs4305803	0.88[ASN][1000 genomes]
rs4724942	0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7793247	0.88[ASN][1000 genomes]
rs7795797	0.84[ASN][1000 genomes]
rs985054	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1015277	chr7:6705439-7303195	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv887457	chr7:6820508-7163442	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
3	nsv887461	chr7:6832265-7163442	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
4	nsv1022295	chr7:6854098-7171376	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
5	nsv1021638	chr7:6854098-7188086	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1023133	chr7:6854098-7516700	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
7	nsv869091	chr7:6927461-7567820	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
8	nsv428160	chr7:6936949-7219553	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
9	nsv1020929	chr7:6954959-7232920	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases
10	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
11	nsv1023662	chr7:7001595-7145831	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
12	nsv1022306	chr7:7001595-7149989	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
13	esv2761153	chr7:7001607-7190803	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
14	nsv887467	chr7:7036939-7163442	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
15	nsv887468	chr7:7036939-7187522	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
16	nsv887469	chr7:7036939-7205749	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
17	nsv1020681	chr7:7039474-7150307	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
18	nsv464299	chr7:7040176-7150584	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
19	nsv606032	chr7:7040176-7150584	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
20	nsv464300	chr7:7040176-7368699	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
21	nsv606033	chr7:7040176-7368699	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
22	nsv1016044	chr7:7040500-7150307	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
23	nsv1015553	chr7:7053923-7201291	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
24	nsv538719	chr7:7053923-7201291	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
25	nsv1016369	chr7:7053923-7375567	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
26	nsv1023788	chr7:7053923-7407783	Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
27	nsv538720	chr7:7053923-7407783	Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS 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 miRNA target site	42 gene(s)	inside rSNPs	diseases
28	nsv1032813	chr7:7053923-7497484	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
29	nsv1030246	chr7:7053923-7569633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
30	nsv1019498	chr7:7053923-7668373	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers 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 miRNA target site	54 gene(s)	inside rSNPs	diseases
31	nsv538721	chr7:7053923-7668373	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
32	nsv606034	chr7:7129858-7173681	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7139200-7144000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:7139800-7144000	Weak transcription	Stomach Mucosa	stomach
3	chr7:7139800-7146200	Weak transcription	Fetal Intestine Small	intestine
4	chr7:7140200-7143600	Weak transcription	Esophagus	oesophagus
5	chr7:7140200-7144800	Weak transcription	Fetal Thymus	thymus
6	chr7:7140400-7143600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:7140400-7144800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:7140600-7143600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr7:7140800-7144000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr7:7140800-7144800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:7141000-7143800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr7:7141000-7143800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr7:7141000-7144000	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:7141000-7144400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr7:7141200-7143800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:7141200-7144000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr7:7141600-7143600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr7:7142200-7143800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:7142400-7143600	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr7:7142800-7143600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:7142800-7144000	Enhancers	Hela-S3	cervix
22	chr7:7142800-7144400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr7:7142800-7146400	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr7:7143000-7144000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
25	chr7:7143000-7144200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr7:7143000-7145600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr7:7143000-7145800	Enhancers	Primary T helper cells PMA-I stimulated	--
28	chr7:7143200-7143600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:7143200-7143600	Active TSS	K562	blood
30	chr7:7143200-7143800	Weak transcription	Right Atrium	heart
31	chr7:7143200-7144200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr7:7143200-7144800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr7:7143200-7145000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr7:7143200-7146600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:7143200-7147400	Weak transcription	Dnd41	blood
36	chr7:7143400-7143600	Enhancers	Primary T cells from cord blood	blood
37	chr7:7143400-7143800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr7:7143400-7143800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr7:7143400-7143800	Weak transcription	HepG2	liver
40	chr7:7143400-7144000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr7:7143400-7144000	Weak transcription	HSMM	muscle
42	chr7:7143400-7144200	Enhancers	Primary T cells fromperipheralblood	blood

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