Variant report

Variant	rs817412
Chromosome Location	chr1:85624864-85624865
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:85624824..85626409-chr1:85664371..85667165,2	K562	blood:
2	chr1:85624154..85626625-chr1:85666842..85668443,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000097096	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11805576	1.00[AMR][1000 genomes]
rs1674180	1.00[EUR][1000 genomes]
rs17123230	1.00[AMR][1000 genomes]
rs17125247	1.00[AMR][1000 genomes]
rs1870326	1.00[EUR][1000 genomes]
rs2790912	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs709784	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs709791	1.00[EUR][1000 genomes]
rs709792	1.00[EUR][1000 genomes]
rs817402	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs817405	1.00[AMR][1000 genomes]
rs817408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs817442	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs817443	1.00[ASW][hapmap];0.88[LWK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs817444	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs817448	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs817450	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs817454	1.00[AMR][1000 genomes]
rs817455	1.00[AMR][1000 genomes]
rs817459	1.00[AMR][1000 genomes]
rs817460	1.00[AMR][1000 genomes]
rs817461	1.00[AMR][1000 genomes]
rs971243	1.00[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	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:32 , 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	chr1:85608800-85629200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr1:85610400-85647800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:85610600-85630600	Weak transcription	Fetal Intestine Small	intestine
6	chr1:85611400-85629600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:85615400-85647600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr1:85615400-85655200	Weak transcription	Lung	lung
9	chr1:85615600-85654000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:85615800-85625200	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:85615800-85627200	Weak transcription	Ovary	ovary
12	chr1:85615800-85627600	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:85615800-85629400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:85615800-85630600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:85615800-85632800	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr1:85615800-85665800	Weak transcription	Esophagus	oesophagus
17	chr1:85616000-85632200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:85616000-85634600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:85616000-85638800	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:85616400-85627600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr1:85616400-85635800	Weak transcription	Left Ventricle	heart
22	chr1:85617800-85648000	Weak transcription	Liver	Liver
23	chr1:85619000-85629000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr1:85619000-85655000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:85619200-85647400	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:85619800-85628000	Weak transcription	Fetal Heart	heart
27	chr1:85619800-85630600	Weak transcription	Fetal Stomach	stomach
28	chr1:85619800-85632600	Weak transcription	Fetal Intestine Large	intestine
29	chr1:85619800-85646800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:85621000-85645000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:85624400-85626000	Enhancers	Pancreatic Islets	Pancreatic Islet
32	chr1:85624400-85647600	Weak transcription	HSMM	muscle

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