Variant report

Variant	rs995062
Chromosome Location	chr4:96137512-96137513
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:96130668..96133159-chr4:96135795..96137736,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10856911	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11944846	0.81[CEU][hapmap];0.85[CHB][hapmap];0.95[CHD][hapmap];0.80[GIH][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.80[ASN][1000 genomes]
rs12513212	0.81[CHB][hapmap];0.86[ASN][1000 genomes]
rs13118653	0.92[CEU][hapmap]
rs1434534	0.92[CEU][hapmap];0.86[GIH][hapmap];0.96[MEX][hapmap];0.92[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs17023311	0.81[CEU][hapmap]
rs2276322	1.00[MEX][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2571037	0.92[CEU][hapmap];0.90[CHB][hapmap];0.90[CHD][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2571038	0.96[CEU][hapmap];0.86[GIH][hapmap];0.84[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.92[TSI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2621449	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2621450	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2621451	0.95[CHB][hapmap];0.97[CHD][hapmap];0.81[TSI][hapmap];0.82[ASN][1000 genomes]
rs2865383	0.84[CEU][hapmap];0.84[ASN][1000 genomes]
rs2865384	0.81[CEU][hapmap];0.84[JPT][hapmap];0.91[MEX][hapmap];0.81[TSI][hapmap];0.89[ASN][1000 genomes]
rs34656389	0.88[ASN][1000 genomes]
rs3775002	0.83[GIH][hapmap]
rs3775043	0.82[CHB][hapmap];0.95[JPT][hapmap];0.91[MEX][hapmap];0.88[ASN][1000 genomes]
rs3775046	0.83[MEX][hapmap]
rs4419475	0.88[ASN][1000 genomes]
rs4699412	0.80[GIH][hapmap]
rs4699414	0.92[CEU][hapmap]
rs4699415	0.84[CEU][hapmap]
rs4699837	0.84[CEU][hapmap];0.87[GIH][hapmap];0.82[TSI][hapmap]
rs59785524	0.88[ASN][1000 genomes]
rs62319060	0.84[ASN][1000 genomes]
rs6846193	0.80[CEU][hapmap]
rs7434638	0.80[GIH][hapmap]
rs7661876	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7676599	0.81[CHB][hapmap];0.84[JPT][hapmap];0.91[ASN][1000 genomes]
rs7693043	0.86[ASN][1000 genomes]
rs9307155	0.80[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	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv594907	chr4:95975470-96170439	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv879623	chr4:96123466-96168719	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:96100000-96143000	Weak transcription	Fetal Kidney	kidney
2	chr4:96134400-96142600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
3	chr4:96134600-96138200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr4:96134600-96138600	Enhancers	K562	blood
5	chr4:96134600-96176800	Weak transcription	Fetal Stomach	stomach
6	chr4:96134800-96137600	Enhancers	Brain Germinal Matrix	brain
7	chr4:96134800-96137800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr4:96134800-96138000	Weak transcription	Aorta	Aorta
9	chr4:96134800-96140200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr4:96134800-96147000	Weak transcription	Brain Anterior Caudate	brain
11	chr4:96135200-96146800	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr4:96135400-96138400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr4:96135600-96153600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr4:96135800-96140000	Weak transcription	Brain Angular Gyrus	brain
15	chr4:96135800-96140000	Weak transcription	Brain Cingulate Gyrus	brain
16	chr4:96136200-96138200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr4:96136200-96138200	Enhancers	Muscle Satellite Cultured Cells	--
18	chr4:96136400-96138000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr4:96136600-96137600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr4:96136600-96137600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr4:96136800-96137600	Enhancers	Adipose Nuclei	Adipose
22	chr4:96136800-96137600	Enhancers	Placenta	Placenta
23	chr4:96136800-96137800	Enhancers	Primary hematopoietic stem cells	blood
24	chr4:96136800-96138000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:96136800-96138000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr4:96136800-96138400	Enhancers	Osteobl	bone
27	chr4:96136800-96140800	Strong transcription	Brain Hippocampus Middle	brain
28	chr4:96136800-96141200	Weak transcription	Brain Substantia Nigra	brain
29	chr4:96137000-96137600	Active TSS	Primary B cells from cord blood	blood
30	chr4:96137000-96138000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr4:96137000-96138200	Enhancers	Ovary	ovary
32	chr4:96137200-96137600	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr4:96137200-96137600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
34	chr4:96137200-96137600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr4:96137200-96145000	Weak transcription	Fetal Brain Male	brain
36	chr4:96137400-96138000	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr4:96137400-96138200	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr4:96137400-96138200	Enhancers	HSMM	muscle
39	chr4:96137400-96139400	Weak transcription	Fetal Lung	lung
40	chr4:96137400-96140200	Weak transcription	HSMMtube	muscle

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