Variant report

Variant	rs817417
Chromosome Location	chr1:85629830-85629831
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1037745	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12021868	0.80[ASN][1000 genomes]
rs12034937	0.80[ASN][1000 genomes]
rs12039804	0.80[ASN][1000 genomes]
rs2007508	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2068427	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2994490	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3013111	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3364	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs56191061	0.80[ASN][1000 genomes]
rs58068482	0.80[ASN][1000 genomes]
rs58246117	0.80[ASN][1000 genomes]
rs709785	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs709787	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs817409	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs817410	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs817413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs817414	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs817416	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs817418	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs817419	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs817420	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs817421	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs817424	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs817426	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs817427	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs817429	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs817430	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs817431	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs817432	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs817433	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs817435	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs817437	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs817439	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs817440	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs817441	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs817452	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.80[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	esv34165	chr1:85542040-85846249	Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv830459	chr1:85589585-85786311	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85603800-85632200	Weak transcription	Fetal Lung	lung
2	chr1:85608600-85655200	Weak transcription	Aorta	Aorta
3	chr1:85610400-85647800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr1:85610600-85630600	Weak transcription	Fetal Intestine Small	intestine
5	chr1:85615400-85647600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr1:85615400-85655200	Weak transcription	Lung	lung
7	chr1:85615600-85654000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:85615800-85630600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:85615800-85632800	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr1:85615800-85665800	Weak transcription	Esophagus	oesophagus
11	chr1:85616000-85632200	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:85616000-85634600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:85616000-85638800	Weak transcription	Colon Smooth Muscle	Colon
14	chr1:85616400-85635800	Weak transcription	Left Ventricle	heart
15	chr1:85617800-85648000	Weak transcription	Liver	Liver
16	chr1:85619000-85655000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:85619200-85647400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:85619800-85630600	Weak transcription	Fetal Stomach	stomach
19	chr1:85619800-85632600	Weak transcription	Fetal Intestine Large	intestine
20	chr1:85619800-85646800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:85621000-85645000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:85624400-85647600	Weak transcription	HSMM	muscle
23	chr1:85625600-85654600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:85626200-85632800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:85626600-85637200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr1:85626600-85637400	Weak transcription	K562	blood
27	chr1:85626600-85638400	Weak transcription	Pancreas	Pancrea
28	chr1:85626800-85655600	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:85627200-85657400	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr1:85627400-85654200	Weak transcription	Gastric	stomach
31	chr1:85627400-85655800	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr1:85627400-85663000	Weak transcription	NHEK	skin
33	chr1:85627600-85630600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:85627600-85648000	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr1:85627800-85655800	Weak transcription	NHDF-Ad	bronchial
36	chr1:85627800-85664400	Weak transcription	Osteobl	bone
37	chr1:85628200-85632600	Weak transcription	Ovary	ovary
38	chr1:85628400-85647400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:85628600-85632200	Weak transcription	Fetal Heart	heart
40	chr1:85628600-85648000	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr1:85629000-85630600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:85629000-85645200	Weak transcription	Duodenum Mucosa	Duodenum
43	chr1:85629200-85630800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:85629400-85631200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:85629400-85631200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:85629600-85630400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr1:85629800-85653600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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