Variant report

Variant	rs72722631
Chromosome Location	chr1:85688945-85688946
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:85588834..85592505-chr1:85688070..85691110,3	K562	blood:
2	chr1:85665362..85671529-chr1:85685487..85692910,10	MCF-7	breast:
3	chr1:85665411..85671906-chr1:85683759..85698338,27	MCF-7	breast:
4	chr1:85666946..85668694-chr1:85686380..85689036,2	K562	blood:
5	chr1:85687931..85689512-chr1:85720221..85722381,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162643	Chromatin interaction
ENSG00000097096	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11161556	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11161574	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11161584	0.84[EUR][1000 genomes]
rs11577656	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11583836	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12563295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17123650	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2252408	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2735593	0.88[EUR][1000 genomes]
rs2735594	0.88[EUR][1000 genomes]
rs36006436	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4243776	0.81[EUR][1000 genomes]
rs4255398	0.84[EUR][1000 genomes]
rs4907139	0.84[EUR][1000 genomes]
rs4949892	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4949926	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs60156243	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6663690	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6671589	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6693365	0.86[EUR][1000 genomes]
rs709790	0.83[ASN][1000 genomes]
rs72722613	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72722616	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72722624	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72722638	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72722641	0.97[ASN][1000 genomes]
rs72722643	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7366220	0.85[EUR][1000 genomes];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	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:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85668000-85689000	Weak transcription	Gastric	stomach
2	chr1:85673800-85690400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:85681400-85690400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:85684600-85689200	Enhancers	Fetal Stomach	stomach
5	chr1:85685400-85690000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr1:85685600-85690400	Enhancers	Fetal Lung	lung
7	chr1:85685800-85690800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr1:85686400-85690000	Weak transcription	Fetal Intestine Large	intestine
9	chr1:85686400-85690400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:85686400-85690400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr1:85686600-85690000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:85686600-85690000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr1:85686600-85690400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:85686600-85690400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:85686600-85690800	Weak transcription	Esophagus	oesophagus
16	chr1:85686800-85689600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:85686800-85690000	Weak transcription	Fetal Kidney	kidney
18	chr1:85686800-85690800	Weak transcription	Right Atrium	heart
19	chr1:85687000-85689200	Weak transcription	Stomach Mucosa	stomach
20	chr1:85687000-85690000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr1:85687000-85709600	Weak transcription	Aorta	Aorta
22	chr1:85687400-85690400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:85687600-85689000	Weak transcription	Fetal Heart	heart
24	chr1:85687800-85689400	Enhancers	Pancreas	Pancrea
25	chr1:85687800-85689800	Enhancers	Placenta	Placenta
26	chr1:85688200-85689000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:85688200-85690200	Weak transcription	Rectal Smooth Muscle	rectum
28	chr1:85688200-85690600	Enhancers	Colon Smooth Muscle	Colon
29	chr1:85688400-85690400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr1:85688600-85692200	Enhancers	Fetal Intestine Small	intestine
31	chr1:85688800-85690600	Enhancers	K562	blood

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