Variant report

Variant	rs17127201
Chromosome Location	chr1:85877498-85877499
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	chr1:85875979..85878822-chr1:85889098..85890895,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10873700	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11161595	0.85[EUR][1000 genomes]
rs11161604	1.00[CEU][hapmap];0.87[AMR][1000 genomes]
rs11161613	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11590830	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12116463	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12122154	0.82[EUR][1000 genomes]
rs12123722	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12126355	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs12131258	1.00[ASN][1000 genomes]
rs12136295	1.00[CEU][hapmap];0.91[JPT][hapmap];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12143626	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12717764	0.85[CHB][hapmap]
rs1523998	1.00[CEU][hapmap]
rs17127231	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17127399	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17127565	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2235990	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2284798	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28816748	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56888838	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57996130	0.99[ASN][1000 genomes]
rs593728	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7553530	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[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	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1008877	chr1:85843238-85897570	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85871400-85878400	Weak transcription	Fetal Muscle Leg	muscle
2	chr1:85873200-85879600	Weak transcription	Brain Cingulate Gyrus	brain
3	chr1:85873400-85882800	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:85873600-85885000	Weak transcription	Fetal Intestine Large	intestine
5	chr1:85873800-85882000	Weak transcription	Fetal Intestine Small	intestine
6	chr1:85873800-85885400	Weak transcription	Fetal Stomach	stomach
7	chr1:85873800-85887600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:85874000-85878000	Weak transcription	Stomach Mucosa	stomach
9	chr1:85874000-85903800	Weak transcription	NHLF	lung
10	chr1:85874200-85903600	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr1:85874400-85903600	Weak transcription	HepG2	liver
12	chr1:85874400-85904200	Weak transcription	NH-A	brain
13	chr1:85875000-85882800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:85875400-85878800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:85875400-85880000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:85875400-85885600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:85876600-85877600	Enhancers	HSMMtube	muscle
18	chr1:85876600-85877800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr1:85876600-85878000	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr1:85876600-85878200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr1:85876800-85878200	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr1:85876800-85878400	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr1:85876800-85878400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr1:85876800-85878400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr1:85876800-85878400	Genic enhancers	Osteobl	bone
26	chr1:85876800-85880000	Strong transcription	HSMM	muscle
27	chr1:85877000-85877600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr1:85877000-85877600	Enhancers	HUVEC	blood vessel
29	chr1:85877000-85878400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:85877000-85878800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:85877000-85879000	Enhancers	Ovary	ovary
32	chr1:85877000-85880400	Enhancers	NHDF-Ad	bronchial
33	chr1:85877200-85877600	Enhancers	Aorta	Aorta
34	chr1:85877200-85877600	Enhancers	Pancreas	Pancrea
35	chr1:85877200-85877600	Enhancers	Psoas Muscle	Psoas
36	chr1:85877200-85877600	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr1:85877200-85878200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr1:85877200-85878800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr1:85877200-85885600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr1:85877400-85877600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr1:85877400-85878200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
42	chr1:85877400-85879400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:85877400-85882400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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