Variant report

Variant	rs17127978
Chromosome Location	chr1:86085182-86085183
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs17127904	1.00[AFR][1000 genomes]
rs17127933	1.00[AFR][1000 genomes]
rs17127949	0.83[ASN][1000 genomes]
rs17127983	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17127986	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17127994	1.00[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs17128015	1.00[AFR][1000 genomes]
rs17128025	1.00[AFR][1000 genomes]
rs17128031	1.00[AFR][1000 genomes]
rs17128098	1.00[AFR][1000 genomes]
rs17128165	1.00[AFR][1000 genomes]
rs17128173	1.00[AFR][1000 genomes]
rs17128176	1.00[AFR][1000 genomes]
rs17128216	1.00[AFR][1000 genomes]
rs17128220	1.00[AFR][1000 genomes]
rs17128234	1.00[AFR][1000 genomes]
rs17128240	1.00[AFR][1000 genomes]
rs17128242	1.00[AFR][1000 genomes]
rs17128243	1.00[AFR][1000 genomes]
rs17128249	1.00[AFR][1000 genomes]
rs17128271	1.00[AFR][1000 genomes]
rs17128273	1.00[AFR][1000 genomes]
rs17128279	1.00[AFR][1000 genomes]
rs17128284	1.00[AFR][1000 genomes]
rs17128287	1.00[AFR][1000 genomes]
rs17128302	1.00[AFR][1000 genomes]
rs6672587	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7512713	0.83[ASN][1000 genomes]
rs9658588	1.00[AFR][1000 genomes]
rs9658592	1.00[AFR][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:26 , 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	chr1:86082000-86086400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr1:86082200-86086800	Weak transcription	Fetal Heart	heart
7	chr1:86082200-86086800	Weak transcription	Fetal Intestine Small	intestine
8	chr1:86082200-86087600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:86082400-86085400	Weak transcription	Aorta	Aorta
10	chr1:86082400-86086800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:86082400-86087200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr1:86082600-86085200	Weak transcription	Fetal Stomach	stomach
13	chr1:86083200-86086600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:86083400-86086800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:86083600-86086400	Weak transcription	Brain Substantia Nigra	brain
16	chr1:86083800-86085800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr1:86083800-86095200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:86083800-86103200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:86084000-86086800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:86084000-86086800	Weak transcription	HSMM	muscle
21	chr1:86084000-86087000	Weak transcription	NH-A	brain
22	chr1:86084200-86086200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr1:86084200-86086200	Weak transcription	Fetal Muscle Leg	muscle
24	chr1:86084200-86086800	Weak transcription	NHDF-Ad	bronchial
25	chr1:86084400-86087800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:86084600-86092800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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