Variant report

Variant	rs2286443
Chromosome Location	chr7:149986773-149986774
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10226780	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10226892	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10248343	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10257486	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10262634	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10263422	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10263553	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10268956	0.80[ASN][1000 genomes]
rs10274049	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10282601	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11977560	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17134467	0.81[ASN][1000 genomes]
rs2286450	0.80[ASN][1000 genomes]
rs2429332	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28445261	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28758896	0.84[ASN][1000 genomes]
rs34623713	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35524345	0.83[ASN][1000 genomes]
rs36038850	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3757427	0.84[ASN][1000 genomes]
rs4015666	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4015671	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs57746954	0.90[EUR][1000 genomes]
rs67267434	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6952790	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6953201	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6953703	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6954041	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6968789	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6968928	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71537936	0.83[EUR][1000 genomes]
rs73470314	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv889435	chr7:149585379-150013393	ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv889452	chr7:149838371-150003208	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1034409	chr7:149844639-150447071	Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv970966	chr7:149961366-150002640	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
6	nsv1015582	chr7:149967986-150285104	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:149974200-149989000	Weak transcription	Esophagus	oesophagus
2	chr7:149976400-149993200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr7:149978800-150000000	Weak transcription	Pancreas	Pancrea
4	chr7:149979400-149987800	Weak transcription	Right Atrium	heart
5	chr7:149981600-149990800	Weak transcription	Fetal Intestine Small	intestine
6	chr7:149983000-149995600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
7	chr7:149983200-149990800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr7:149983400-149996600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr7:149983800-149987400	Weak transcription	K562	blood
10	chr7:149984000-149987400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:149984000-149989000	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr7:149984200-150012400	Weak transcription	Liver	Liver
13	chr7:149984200-150019400	Weak transcription	Colonic Mucosa	Colon
14	chr7:149984600-149987600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr7:149985400-149987800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr7:149985400-149988800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr7:149985400-149990000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:149985400-149990800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr7:149985400-150002600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:149985800-149988200	Weak transcription	Stomach Smooth Muscle	stomach
21	chr7:149986400-149990400	Weak transcription	Gastric	stomach
22	chr7:149986600-149987400	Weak transcription	H1 Cell Line	embryonic stem cell

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