Variant report

Variant	rs35202374
Chromosome Location	chr7:7682590-7682591
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	FOXA1	chr7:7682260-7682814	HepG2	liver:	n/a	n/a
2	FOXA1	chr7:7682308-7682772	HepG2	liver:	n/a	n/a
3	FOXA1	chr7:7682187-7682822	HepG2	liver:	n/a	n/a
4	GATA3	chr7:7681687-7682855	MCF-7	breast:	n/a	n/a
5	FOXA1	chr7:7682302-7682711	HepG2	liver:	n/a	n/a
6	ARID3A	chr7:7682423-7682622	HepG2	liver:	n/a	n/a
7	NR2F2	chr7:7682356-7682876	MCF-7	breast:	n/a	n/a
8	RFX5	chr7:7677457-7682740	SK-N-SH	brain:	n/a	n/a
9	FOXA2	chr7:7682317-7682716	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:7680700..7683473-chr7:7685626..7688056,2	MCF-7	breast:
2	chr7:7680697..7682834-chr7:8264362..8267648,3	K562	blood:

Variant related genes	Relation type
RPA3	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs12702629	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12702632	1.00[ASN][1000 genomes]
rs12702633	1.00[ASN][1000 genomes]
rs13225575	1.00[ASN][1000 genomes]
rs13227585	1.00[ASN][1000 genomes]
rs13227675	1.00[ASN][1000 genomes]
rs13227682	1.00[ASN][1000 genomes]
rs13229887	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17545831	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17547731	1.00[ASN][1000 genomes]
rs2024374	1.00[ASN][1000 genomes]
rs28915992	1.00[ASN][1000 genomes]
rs28916005	1.00[ASN][1000 genomes]
rs34302387	1.00[ASN][1000 genomes]
rs34674816	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34820918	1.00[ASN][1000 genomes]
rs34972393	1.00[ASN][1000 genomes]
rs35278933	1.00[ASN][1000 genomes]
rs36130255	1.00[ASN][1000 genomes]
rs59693264	1.00[ASN][1000 genomes]
rs62434910	1.00[ASN][1000 genomes]
rs6974820	1.00[ASN][1000 genomes]
rs7789164	1.00[ASN][1000 genomes]
rs7793870	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	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	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
4	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
5	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
6	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
7	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
8	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
9	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
10	nsv887479	chr7:7681131-7779091	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv887480	chr7:7681131-7917360	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv887481	chr7:7681576-7779324	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv887482	chr7:7682439-7785047	Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv887483	chr7:7682439-7798217	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:7681200-7682600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
2	chr7:7681400-7682600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr7:7681400-7682600	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr7:7681400-7682600	Enhancers	Brain Substantia Nigra	brain
5	chr7:7681400-7682600	Weak transcription	Gastric	stomach
6	chr7:7681400-7682600	Weak transcription	Pancreas	Pancrea
7	chr7:7681400-7684200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:7681400-7685600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:7681400-7685600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr7:7681400-7688600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr7:7681400-7688600	Weak transcription	Ovary	ovary
12	chr7:7681400-7690200	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr7:7681600-7682600	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr7:7681600-7682600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr7:7681600-7683000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr7:7681600-7685400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr7:7681600-7692000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr7:7681600-7703800	Weak transcription	Stomach Mucosa	stomach
19	chr7:7681600-7710200	Weak transcription	Aorta	Aorta
20	chr7:7681800-7682600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr7:7681800-7682600	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr7:7681800-7682600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr7:7681800-7683800	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:7681800-7684600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:7681800-7685400	Weak transcription	GM12878-XiMat	blood
26	chr7:7681800-7685800	Weak transcription	Fetal Lung	lung
27	chr7:7681800-7686000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:7681800-7686200	Weak transcription	Fetal Stomach	stomach
29	chr7:7681800-7692600	Weak transcription	Primary T cells from cord blood	blood
30	chr7:7681800-7696400	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr7:7682000-7682600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr7:7682000-7682600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr7:7682000-7682800	Weak transcription	Spleen	Spleen
34	chr7:7682000-7683000	Enhancers	HepG2	liver
35	chr7:7682000-7683600	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr7:7682000-7684800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:7682000-7685000	Weak transcription	Fetal Intestine Small	intestine
38	chr7:7682000-7685400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr7:7682000-7685600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr7:7682000-7685600	Weak transcription	Primary hematopoietic stem cells	blood
41	chr7:7682000-7686800	Weak transcription	Right Ventricle	heart
42	chr7:7682000-7687200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:7682000-7687800	Weak transcription	Esophagus	oesophagus
44	chr7:7682000-7689400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
45	chr7:7682000-7690200	Weak transcription	Liver	Liver
46	chr7:7682000-7691000	Weak transcription	Fetal Kidney	kidney
47	chr7:7682000-7692600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr7:7682000-7694600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr7:7682000-7694600	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr7:7682000-7694600	Weak transcription	Psoas Muscle	Psoas

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