Variant report

Variant	rs71654716
Chromosome Location	chr1:86083086-86083087
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86046852..86049403-chr1:86080324..86084474,3	K562	blood:

Variant related genes	Relation type
ENSG00000142871	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12746474	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34254668	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34315594	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34435863	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34804563	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35022391	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35398538	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6675729	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs71654715	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs71654717	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7532729	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][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	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1000290	chr1:86078495-86105379	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86079200-86085200	Weak transcription	Hela-S3	cervix
2	chr1:86079200-86086400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:86079200-86087800	Weak transcription	Left Ventricle	heart
4	chr1:86079200-86094400	Weak transcription	Pancreas	Pancrea
5	chr1:86079400-86084200	Enhancers	NHDF-Ad	bronchial
6	chr1:86081200-86083800	Enhancers	Placenta Amnion	Placenta Amnion
7	chr1:86081600-86084600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:86081800-86083200	Enhancers	Placenta	Placenta
9	chr1:86082000-86083800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:86082000-86086400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:86082200-86084200	Enhancers	Fetal Muscle Leg	muscle
12	chr1:86082200-86086800	Weak transcription	Fetal Heart	heart
13	chr1:86082200-86086800	Weak transcription	Fetal Intestine Small	intestine
14	chr1:86082200-86087600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:86082400-86084200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr1:86082400-86085400	Weak transcription	Aorta	Aorta
17	chr1:86082400-86086800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:86082400-86087200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:86082600-86083200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:86082600-86084200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:86082600-86084400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:86082600-86085200	Weak transcription	Fetal Stomach	stomach
23	chr1:86083000-86083200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr1:86083000-86083200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:86083000-86083200	Flanking Active TSS	HSMMtube	muscle
26	chr1:86083000-86083400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:86083000-86083400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:86083000-86083800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr1:86083000-86083800	Enhancers	Brain Anterior Caudate	brain
30	chr1:86083000-86083800	Enhancers	Brain Cingulate Gyrus	brain
31	chr1:86083000-86083800	Enhancers	Stomach Smooth Muscle	stomach
32	chr1:86083000-86084000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr1:86083000-86084000	Enhancers	HSMM	muscle
34	chr1:86083000-86084000	Enhancers	NH-A	brain
35	chr1:86083000-86084000	Enhancers	NHLF	lung
36	chr1:86083000-86084000	Enhancers	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links