Variant report

Variant	rs4847384
Chromosome Location	chr1:93382279-93382280
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10493863	0.86[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10782945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10782946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874744	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10874746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874747	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874751	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10874753	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs11164830	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11164835	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11164836	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164840	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11164842	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164843	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11164844	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11164845	0.91[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11423955	0.85[ASN][1000 genomes]
rs11577636	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11578986	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11587920	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12059883	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12060952	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12065253	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12066638	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12069727	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12074608	0.91[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12081675	0.87[CEU][hapmap]
rs12745968	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1337107	1.00[JPT][hapmap]
rs1360366	1.00[CEU][hapmap];0.85[YRI][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535372	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs17380908	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255717	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2255723	0.95[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2263247	0.95[CEU][hapmap];1.00[CHB][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2391177	0.95[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2481710	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2481711	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2481712	0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2481713	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2481714	0.84[EUR][1000 genomes]
rs2492293	0.81[EUR][1000 genomes]
rs2492294	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2774945	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2774946	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2774949	0.92[CEU][hapmap];1.00[CHB][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2774950	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2774952	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2774953	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2774954	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2774955	0.83[EUR][1000 genomes]
rs2774956	0.92[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2811589	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2811590	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2811591	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2811593	0.95[CEU][hapmap];1.00[CHB][hapmap];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2811594	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2811596	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2811597	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2811598	0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2811600	0.95[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2893225	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34084844	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34389767	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34398175	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35367625	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4300228	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4308991	1.00[CHB][hapmap]
rs4351651	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4420089	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4450029	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4561051	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4592265	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4847378	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6604014	0.84[CEU][hapmap];1.00[JPT][hapmap]
rs6604028	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604029	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604030	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6604031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666831	0.84[CEU][hapmap]
rs6694051	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6697543	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6698082	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6698179	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6698233	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6700585	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7417198	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515257	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7517935	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7536563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7542608	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550347	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7550660	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9439948	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9440127	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9440134	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs949915	0.92[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9651257	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93366400-93409200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr1:93367000-93390400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr1:93369000-93394200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr1:93370400-93395000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:93370600-93395000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr1:93374200-93384800	Weak transcription	Primary B cells from cord blood	blood
7	chr1:93375200-93384400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:93376000-93382400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:93376000-93384400	Weak transcription	Primary T cells from cord blood	blood
10	chr1:93376000-93387000	Weak transcription	Brain Anterior Caudate	brain
11	chr1:93376000-93388200	Weak transcription	Brain Hippocampus Middle	brain
12	chr1:93376000-93395400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:93376000-93400400	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr1:93376600-93386800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr1:93376600-93388000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:93376800-93395400	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:93377000-93401400	Weak transcription	Dnd41	blood
18	chr1:93377200-93382800	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr1:93379000-93382400	Weak transcription	HMEC	breast
20	chr1:93380400-93382600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:93380600-93384000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:93380800-93383400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr1:93380800-93386000	Weak transcription	Primary B cells from peripheral blood	blood
24	chr1:93381000-93382600	Enhancers	Liver	Liver
25	chr1:93381000-93383400	Enhancers	NHLF	lung
26	chr1:93381000-93395400	Weak transcription	Thymus	Thymus
27	chr1:93382000-93382400	Enhancers	A549	lung
28	chr1:93382000-93382600	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr1:93382000-93383200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:93382000-93383400	Enhancers	NHDF-Ad	bronchial
31	chr1:93382000-93383600	Enhancers	HepG2	liver
32	chr1:93382200-93382600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:93382200-93382600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr1:93382200-93383000	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr1:93382200-93383400	Enhancers	Fetal Lung	lung
36	chr1:93382200-93383400	Enhancers	Osteobl	bone
37	chr1:93382200-93384000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:93382200-93394800	Weak transcription	Gastric	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links