Variant report

Variant	rs793492
Chromosome Location	chr3:99499736-99499737
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:99498216..99500096-chr3:99501454..99503765,4	K562	blood:
2	chr3:99497696..99500185-chr3:99535377..99538184,2	K562	blood:

Variant related genes	Relation type
ENSG00000184220	Chromatin interaction

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs1016914	0.84[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap]
rs1021102	0.84[CHB][hapmap];0.90[JPT][hapmap];0.88[YRI][hapmap]
rs1021103	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1038294	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1087198	0.83[CHB][hapmap];0.91[JPT][hapmap];0.80[YRI][hapmap]
rs10936005	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs10936008	0.91[JPT][hapmap]
rs1287283	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs13317017	0.83[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap]
rs1606481	0.80[CEU][hapmap]
rs16841679	0.81[CHB][hapmap]
rs1688766	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1688771	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1688772	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1688782	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs1711557	0.80[CEU][hapmap]
rs1718246	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2452320	0.83[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap]
rs2452321	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs4075038	0.93[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4244711	0.83[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap]
rs4244713	0.90[JPT][hapmap];0.89[YRI][hapmap]
rs4361315	0.93[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap]
rs4479633	0.83[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap]
rs4928149	0.86[CEU][hapmap]
rs4928232	0.91[JPT][hapmap];0.89[YRI][hapmap]
rs629120	0.80[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs6440938	0.83[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap]
rs6765027	0.91[JPT][hapmap];0.89[YRI][hapmap]
rs6809988	0.83[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap]
rs694429	0.80[CEU][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs704570	0.81[JPT][hapmap];0.80[YRI][hapmap]
rs704573	0.81[JPT][hapmap]
rs704581	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs704582	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs704583	0.83[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap]
rs7616988	0.81[ASN][1000 genomes]
rs7629426	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs7636447	0.84[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap]
rs7638900	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs792834	1.00[CEU][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs793440	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs793445	0.84[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap]
rs793452	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs793453	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs793457	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs793460	0.84[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap]
rs793461	0.84[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap]
rs793462	0.83[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap]
rs793463	0.83[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap]
rs793465	0.83[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap]
rs793466	0.83[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap]
rs793467	0.83[CHB][hapmap];0.91[JPT][hapmap];0.80[YRI][hapmap]
rs793468	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs793470	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs793472	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs793474	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs793488	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs793494	0.83[CHB][hapmap];0.91[JPT][hapmap];0.80[YRI][hapmap]
rs793495	0.83[CHB][hapmap];0.91[JPT][hapmap];0.80[YRI][hapmap]
rs793496	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs793499	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs793503	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs796977	0.84[CHB][hapmap];0.90[JPT][hapmap];0.80[YRI][hapmap]
rs796978	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs809415	0.84[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap]
rs812657	0.83[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap]
rs9872871	0.84[CHB][hapmap];0.91[JPT][hapmap];0.89[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817478	chr3:99474086-99955548	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99484400-99500400	Weak transcription	HSMMtube	muscle
2	chr3:99492000-99517600	Weak transcription	Stomach Smooth Muscle	stomach
3	chr3:99494200-99500400	Weak transcription	HMEC	breast
4	chr3:99494200-99513600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr3:99494600-99500400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr3:99495800-99502000	Weak transcription	HUVEC	blood vessel
7	chr3:99496000-99513000	Weak transcription	NHEK	skin
8	chr3:99496400-99500400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr3:99496400-99505200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr3:99498600-99503000	Enhancers	NHDF-Ad	bronchial
11	chr3:99498800-99500000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:99498800-99502600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr3:99499000-99502400	Enhancers	HSMM	muscle
14	chr3:99499000-99502800	Enhancers	NH-A	brain
15	chr3:99499200-99500200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr3:99499200-99501000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr3:99499200-99501600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:99499400-99499800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr3:99499400-99502800	Enhancers	NHLF	lung
20	chr3:99499400-99503000	Enhancers	Osteobl	bone
21	chr3:99499400-99509000	Weak transcription	Aorta	Aorta
22	chr3:99499600-99501600	Enhancers	Muscle Satellite Cultured Cells	--

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