Variant report

Variant	rs1362311
Chromosome Location	chr2:63099356-63099357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10208675	0.82[GIH][hapmap]
rs12617178	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12987254	1.00[ASW][hapmap];0.84[CEU][hapmap];0.88[GIH][hapmap];1.00[LWK][hapmap];0.97[MKK][hapmap];1.00[YRI][hapmap]
rs13030015	1.00[ASW][hapmap];0.84[CEU][hapmap];1.00[LWK][hapmap];0.95[MKK][hapmap];1.00[YRI][hapmap]
rs13398408	0.89[CEU][hapmap];0.82[GIH][hapmap]
rs2160100	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2539979	1.00[CEU][hapmap];0.82[GIH][hapmap];0.92[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs2539986	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.95[MKK][hapmap];0.94[TSI][hapmap];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2553042	1.00[CEU][hapmap];0.88[GIH][hapmap];0.87[MKK][hapmap];0.92[TSI][hapmap];0.81[EUR][1000 genomes]
rs2710636	0.87[EUR][1000 genomes]
rs2710648	1.00[CEU][hapmap];0.83[CHB][hapmap];0.88[CHD][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes]
rs2931488	0.94[CEU][hapmap]
rs2969300	0.94[CEU][hapmap]
rs34503992	1.00[CEU][hapmap];0.88[GIH][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes]
rs35499742	1.00[ASW][hapmap];0.82[GIH][hapmap];1.00[YRI][hapmap]
rs35801289	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36009942	1.00[CEU][hapmap];0.88[GIH][hapmap];0.90[MKK][hapmap];0.97[TSI][hapmap];0.86[EUR][1000 genomes]
rs360786	0.94[CEU][hapmap];0.87[GIH][hapmap]
rs360793	0.94[CEU][hapmap];0.82[GIH][hapmap]
rs360794	0.94[CEU][hapmap];0.88[GIH][hapmap];0.82[TSI][hapmap]
rs360795	0.94[CEU][hapmap];0.88[GIH][hapmap];0.82[TSI][hapmap]
rs360796	0.94[CEU][hapmap]
rs360798	1.00[ASW][hapmap];0.94[CEU][hapmap];0.88[GIH][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap]
rs360802	1.00[ASW][hapmap];0.89[CEU][hapmap];0.88[GIH][hapmap];0.82[TSI][hapmap];1.00[YRI][hapmap]
rs360805	0.89[CEU][hapmap];0.82[GIH][hapmap]
rs360806	0.94[CEU][hapmap];0.88[GIH][hapmap]
rs6545973	0.84[MKK][hapmap]
rs6545974	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6760804	0.82[GIH][hapmap]
rs67657712	0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv535767	chr2:62461582-63413596	Bivalent Enhancer Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	esv3417336	chr2:62957866-63749654	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv428041	chr2:63027947-63206574	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1006848	chr2:63061816-63631407	Weak transcription Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	esv2756598	chr2:63085848-63491438	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63046400-63101800	Weak transcription	Brain Angular Gyrus	brain
2	chr2:63052000-63099600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:63054600-63099800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr2:63061200-63115200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr2:63061400-63102000	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr2:63072600-63101800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr2:63074800-63101600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr2:63076400-63101800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr2:63079000-63101800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:63079400-63102000	Weak transcription	HSMMtube	muscle
11	chr2:63079800-63099400	Strong transcription	Liver	Liver
12	chr2:63081000-63100800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr2:63081200-63101400	Weak transcription	Brain Hippocampus Middle	brain
14	chr2:63081400-63101600	Weak transcription	Fetal Brain Male	brain
15	chr2:63082000-63104200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:63082400-63102000	Weak transcription	Aorta	Aorta
17	chr2:63082800-63101800	Weak transcription	Fetal Thymus	thymus
18	chr2:63082800-63102000	Weak transcription	Thymus	Thymus
19	chr2:63083200-63102000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:63083600-63102000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:63083600-63102000	Weak transcription	Spleen	Spleen
22	chr2:63083800-63100000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:63083800-63101400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr2:63083800-63102000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:63083800-63102000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr2:63083800-63102000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:63083800-63102000	Weak transcription	Fetal Brain Female	brain
28	chr2:63083800-63102000	Weak transcription	Gastric	stomach
29	chr2:63084000-63099800	Weak transcription	Fetal Kidney	kidney
30	chr2:63084200-63100000	Weak transcription	Brain Anterior Caudate	brain
31	chr2:63084200-63101800	Weak transcription	Right Ventricle	heart
32	chr2:63084200-63102000	Weak transcription	Pancreas	Pancrea
33	chr2:63084400-63101600	Weak transcription	Fetal Heart	heart
34	chr2:63086600-63099800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:63087200-63100200	Weak transcription	HSMM	muscle
36	chr2:63090600-63102000	Weak transcription	Lung	lung
37	chr2:63091400-63101400	Weak transcription	Fetal Intestine Small	intestine
38	chr2:63091400-63101800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:63091600-63100000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr2:63091600-63102000	Weak transcription	Small Intestine	intestine
41	chr2:63092000-63100000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr2:63092800-63100600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr2:63092800-63102000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr2:63092800-63104000	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr2:63093200-63099800	Weak transcription	Primary B cells from peripheral blood	blood
46	chr2:63093200-63099800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr2:63093400-63099400	Weak transcription	Fetal Muscle Trunk	muscle
48	chr2:63093400-63099800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr2:63093400-63099800	Weak transcription	HMEC	breast
50	chr2:63093400-63100000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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