Variant report

Variant	rs17398321
Chromosome Location	chr1:86084493-86084494
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10158408	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10493773	0.84[ASN][1000 genomes]
rs10493774	0.82[ASN][1000 genomes]
rs12061951	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12066742	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12722770	0.84[ASN][1000 genomes]
rs17394091	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17398175	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2274738	0.83[ASN][1000 genomes]
rs34746573	0.82[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3767163	0.84[ASN][1000 genomes]
rs7354850	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7523292	0.82[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	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	chr1:86081600-86084600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:86082000-86086400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr1:86082200-86086800	Weak transcription	Fetal Heart	heart
8	chr1:86082200-86086800	Weak transcription	Fetal Intestine Small	intestine
9	chr1:86082200-86087600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:86082400-86085400	Weak transcription	Aorta	Aorta
11	chr1:86082400-86086800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr1:86082400-86087200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:86082600-86085200	Weak transcription	Fetal Stomach	stomach
14	chr1:86083200-86086600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr1:86083400-86086800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr1:86083600-86086400	Weak transcription	Brain Substantia Nigra	brain
17	chr1:86083800-86085800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:86083800-86095200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:86083800-86103200	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:86084000-86086800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr1:86084000-86086800	Weak transcription	HSMM	muscle
22	chr1:86084000-86087000	Weak transcription	NH-A	brain
23	chr1:86084200-86086200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:86084200-86086200	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:86084200-86086800	Weak transcription	NHDF-Ad	bronchial
26	chr1:86084400-86087800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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