Variant report

Variant	rs2676143
Chromosome Location	chr2:171805870-171805871
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	POLR2A	chr2:171805788-171806406	HepG2	liver:	n/a	n/a
2	GATA3	chr2:171805854-171806176	MCF-7	breast:	n/a	chr2:171806110-171806118

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:171804516..171806493-chr2:171828529..171830920,2	K562	blood:
2	chr2:171707564..171709152-chr2:171803981..171806562,2	K562	blood:

Variant related genes	Relation type
GORASP2	TF binding region
ENSG00000128683	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1035839	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10490606	1.00[GIH][hapmap];0.85[MEX][hapmap]
rs13017649	1.00[CEU][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs13028361	0.91[EUR][1000 genomes]
rs13389859	1.00[CEU][hapmap];1.00[GIH][hapmap];0.80[MEX][hapmap]
rs16823191	1.00[GIH][hapmap];0.86[MEX][hapmap]
rs16859087	1.00[CEU][hapmap]
rs16859121	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap]
rs16859167	1.00[CEU][hapmap]
rs16859176	1.00[CEU][hapmap]
rs2059723	0.91[CEU][hapmap];0.93[TSI][hapmap]
rs2162574	0.80[CEU][hapmap]
rs2356600	1.00[CEU][hapmap]
rs2356609	1.00[CEU][hapmap]
rs2676139	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2676145	1.00[CEU][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs2676158	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2723248	0.91[CEU][hapmap];0.86[MEX][hapmap]
rs2723250	1.00[CEU][hapmap]
rs2723253	1.00[CEU][hapmap];0.82[MEX][hapmap];0.92[TSI][hapmap];0.91[EUR][1000 genomes]
rs2883940	1.00[CEU][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap]
rs4668342	0.80[CEU][hapmap];0.85[TSI][hapmap]
rs4668353	0.91[EUR][1000 genomes]
rs4668356	1.00[CEU][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes]
rs6711510	0.98[EUR][1000 genomes]
rs6736045	1.00[CEU][hapmap]
rs6743095	0.95[EUR][1000 genomes]
rs6746413	0.91[EUR][1000 genomes]
rs6753513	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs7608813	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs966181	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs999837	0.93[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431801	chr2:171721493-171966493	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171787000-171810400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:171787400-171806000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:171787400-171806000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr2:171787400-171806000	Weak transcription	Esophagus	oesophagus
5	chr2:171787400-171806000	Weak transcription	Psoas Muscle	Psoas
6	chr2:171787400-171807200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:171787400-171808200	Weak transcription	Aorta	Aorta
8	chr2:171787400-171810000	Weak transcription	Small Intestine	intestine
9	chr2:171787600-171806800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr2:171787600-171807600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:171787600-171829800	Weak transcription	Right Atrium	heart
12	chr2:171787800-171806000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:171787800-171806000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr2:171787800-171806200	Weak transcription	Fetal Kidney	kidney
15	chr2:171787800-171806600	Weak transcription	Fetal Brain Female	brain
16	chr2:171787800-171807000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:171787800-171807400	Weak transcription	Brain Germinal Matrix	brain
18	chr2:171787800-171809200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:171788000-171806000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr2:171788000-171806000	Weak transcription	Brain Substantia Nigra	brain
21	chr2:171788000-171806200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:171788000-171806600	Weak transcription	Fetal Lung	lung
23	chr2:171788000-171806800	Weak transcription	Brain Anterior Caudate	brain
24	chr2:171788000-171806800	Weak transcription	A549	lung
25	chr2:171788000-171807600	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:171788000-171808400	Weak transcription	Brain Angular Gyrus	brain
27	chr2:171788200-171806200	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:171788400-171806200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr2:171789400-171806000	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:171789600-171810000	Weak transcription	Stomach Mucosa	stomach
31	chr2:171790600-171806000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr2:171791600-171806000	Weak transcription	Lung	lung
33	chr2:171792400-171806000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:171793400-171806000	Weak transcription	Thymus	Thymus
35	chr2:171793400-171806000	Weak transcription	NH-A	brain
36	chr2:171794000-171806000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr2:171794200-171806000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr2:171794200-171806000	Weak transcription	Fetal Intestine Small	intestine
39	chr2:171794200-171806000	Weak transcription	Fetal Stomach	stomach
40	chr2:171794200-171806000	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr2:171794200-171809200	Weak transcription	Pancreas	Pancrea
42	chr2:171794400-171806000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:171794400-171806000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:171794400-171806000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr2:171794400-171806000	Weak transcription	Gastric	stomach
46	chr2:171794400-171807200	Weak transcription	Spleen	Spleen
47	chr2:171794600-171806000	Weak transcription	Fetal Muscle Leg	muscle
48	chr2:171794600-171806000	Weak transcription	Right Ventricle	heart
49	chr2:171795000-171806000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr2:171795000-171806000	Weak transcription	NHLF	lung

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