Variant report

Variant	rs16841712
Chromosome Location	chr3:99498483-99498484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:99498216..99500096-chr3:99501454..99503765,4	K562	blood:
2	chr3:99497311..99499461-chr3:99505852..99508651,2	K562	blood:
3	chr3:99497696..99500185-chr3:99535377..99538184,2	K562	blood:

Variant related genes	Relation type
ENSG00000184220	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs16841650	1.00[LWK][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap]
rs16841653	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs17313676	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs17778804	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs2035400	1.00[YRI][hapmap]
rs6762809	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs6772519	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs6784150	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs6784975	1.00[AFR][1000 genomes]
rs6787184	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs6791426	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs6796060	1.00[AFR][1000 genomes]
rs6799954	1.00[AFR][1000 genomes]
rs6803576	0.89[AFR][1000 genomes]
rs6805703	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs6805771	1.00[AFR][1000 genomes]
rs6807615	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs6808420	1.00[YRI][hapmap]
rs7611313	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs7612083	1.00[YRI][hapmap]
rs7612089	1.00[YRI][hapmap]
rs7619738	1.00[YRI][hapmap]
rs7626214	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs7626310	1.00[ASW][hapmap];1.00[YRI][hapmap]
rs768527	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs9756455	1.00[YRI][hapmap]
rs9757638	0.89[AFR][1000 genomes]
rs9824017	1.00[YRI][hapmap]
rs9843372	1.00[YRI][hapmap]

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	nsv508231	chr3:99442020-99498951	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	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
3	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	chr3:99493200-99499400	Genic enhancers	Osteobl	bone
4	chr3:99494000-99499200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:99494200-99500400	Weak transcription	HMEC	breast
6	chr3:99494200-99513600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr3:99494600-99500400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr3:99495800-99502000	Weak transcription	HUVEC	blood vessel
9	chr3:99496000-99498800	Weak transcription	NHLF	lung
10	chr3:99496000-99499200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:99496000-99499200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:99496000-99513000	Weak transcription	NHEK	skin
13	chr3:99496400-99498800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:99496400-99499000	Weak transcription	NH-A	brain
15	chr3:99496400-99500400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:99496400-99505200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:99496800-99498600	Weak transcription	NHDF-Ad	bronchial
18	chr3:99496800-99498800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr3:99497200-99499000	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr3:99497200-99499200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:99497800-99498800	Strong transcription	HSMM	muscle
22	chr3:99498400-99499400	Strong transcription	Aorta	Aorta

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