Variant report

Variant	rs7637171
Chromosome Location	chr3:119016581-119016582
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	EP300	chr3:119016449-119016941	SK-N-SH_RA	brain:	n/a	chr3:119016728-119016742
2	TCF12	chr3:119014921-119017045	SK-N-SH	brain:	n/a	n/a
3	MXI1	chr3:119011830-119016982	SK-N-SH	brain:	n/a	n/a
4	WRNIP1	chr3:119016336-119016669	GM12878	blood:	n/a	n/a
5	EP300	chr3:119016497-119016931	SK-N-SH_RA	brain:	n/a	chr3:119016728-119016742

No.	Distal block	Cell Line	Cell type
1	chr3:119011961..119014558-chr3:119015081..119019200,4	MCF-7	breast:
2	chr3:119011699..119014378-chr3:119015999..119019083,3	MCF-7	breast:
3	chr3:119016211..119028042-chr3:119037960..119043695,12	MCF-7	breast:

Variant related genes	Relation type
RPS26P21	TF binding region
ENSG00000241155	Chromatin interaction
ENSG00000031081	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1375134	0.83[CEU][hapmap];0.95[CHB][hapmap];0.86[CHD][hapmap];0.81[EUR][1000 genomes]
rs2044620	0.81[EUR][1000 genomes]
rs4687845	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7622158	1.00[ASW][hapmap]
rs7650193	0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];0.88[GIH][hapmap];0.82[TSI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7653133	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers 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 target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119014200-119017600	Enhancers	Primary T cells from cord blood	blood
2	chr3:119014200-119029800	Weak transcription	Gastric	stomach
3	chr3:119014200-119032800	Weak transcription	Pancreas	Pancrea
4	chr3:119014400-119017200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr3:119014400-119017200	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr3:119014400-119017400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr3:119014400-119017600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr3:119014400-119018000	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr3:119014400-119019800	Weak transcription	NHEK	skin
10	chr3:119014400-119021600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr3:119014400-119021800	Weak transcription	Liver	Liver
12	chr3:119015000-119017000	Flanking Active TSS	GM12878-XiMat	blood
13	chr3:119015000-119017400	Enhancers	Primary T cells fromperipheralblood	blood
14	chr3:119015000-119017800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr3:119015000-119021800	Weak transcription	Fetal Intestine Large	intestine
16	chr3:119015000-119028600	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr3:119015000-119041200	Weak transcription	Aorta	Aorta
18	chr3:119015200-119016800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr3:119015200-119020600	Weak transcription	Primary B cells from cord blood	blood
20	chr3:119015200-119021600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr3:119015200-119041000	Weak transcription	Fetal Kidney	kidney
22	chr3:119015400-119016800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr3:119015400-119016800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr3:119015400-119017200	Enhancers	Colon Smooth Muscle	Colon
25	chr3:119015400-119017200	Enhancers	Placenta Amnion	Placenta Amnion
26	chr3:119015400-119017600	Enhancers	Brain Anterior Caudate	brain
27	chr3:119015400-119017600	Enhancers	Duodenum Mucosa	Duodenum
28	chr3:119015400-119017800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:119015400-119017800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:119015400-119018600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr3:119015400-119019800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr3:119015400-119019800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:119015600-119016600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:119015600-119016600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr3:119015600-119016800	Enhancers	HSMMtube	muscle
36	chr3:119015600-119017600	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr3:119015800-119016600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr3:119015800-119016600	Enhancers	NHLF	lung
39	chr3:119015800-119016800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr3:119015800-119016800	Genic enhancers	Monocytes-CD14+_RO01746	blood
41	chr3:119015800-119017000	Genic enhancers	Fetal Lung	lung
42	chr3:119015800-119017000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr3:119015800-119017200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr3:119015800-119017200	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr3:119015800-119017200	Enhancers	Placenta	Placenta
46	chr3:119015800-119018800	Enhancers	Thymus	Thymus
47	chr3:119015800-119020000	Weak transcription	Colonic Mucosa	Colon
48	chr3:119015800-119024400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr3:119015800-119024400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr3:119016000-119016600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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