Variant report

Variant	rs7565022
Chromosome Location	chr2:178320222-178320223
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 111 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:109)

rs_ID	r²[population]
rs10165785	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10170546	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10170667	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10194648	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10497502	0.84[ASN][1000 genomes]
rs10497503	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10497508	0.84[ASN][1000 genomes]
rs10803909	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10930792	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10930798	0.81[EUR][1000 genomes]
rs11684320	0.81[EUR][1000 genomes]
rs11893448	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12104588	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12463893	0.81[EUR][1000 genomes]
rs12469386	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12471741	0.81[EUR][1000 genomes]
rs12616443	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12618139	0.85[ASN][1000 genomes]
rs12622298	0.81[EUR][1000 genomes]
rs12693120	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12990729	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12996447	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13000048	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13004955	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13013752	0.81[EUR][1000 genomes]
rs13027959	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1348848	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1348849	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1348850	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1374437	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1453370	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16865203	0.84[ASN][1000 genomes]
rs16865216	0.84[ASN][1000 genomes]
rs16865229	0.84[ASN][1000 genomes]
rs16865291	0.85[ASN][1000 genomes]
rs1901824	0.82[ASN][1000 genomes]
rs1901825	0.82[ASN][1000 genomes]
rs1901829	0.84[ASN][1000 genomes]
rs1975543	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1979058	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2060929	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2084233	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2121430	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2166554	0.80[EUR][1000 genomes]
rs2166558	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2197611	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2364845	0.82[ASN][1000 genomes]
rs2364853	0.83[ASN][1000 genomes]
rs2364854	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3769995	0.85[ASN][1000 genomes]
rs3769996	0.85[ASN][1000 genomes]
rs3769997	0.85[ASN][1000 genomes]
rs3770002	0.86[ASN][1000 genomes]
rs3813259	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3902850	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3927978	0.82[EUR][1000 genomes]
rs4243388	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4243390	0.81[EUR][1000 genomes]
rs4341974	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4893821	0.82[ASN][1000 genomes]
rs4893822	0.86[ASN][1000 genomes]
rs4893823	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4893824	0.96[ASN][1000 genomes]
rs4893825	0.96[ASN][1000 genomes]
rs4893931	0.83[ASN][1000 genomes]
rs4893932	0.82[ASN][1000 genomes]
rs4893934	0.82[ASN][1000 genomes]
rs4893935	0.86[ASN][1000 genomes]
rs4893936	0.83[ASN][1000 genomes]
rs4893938	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4893941	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4893944	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4893945	0.95[ASN][1000 genomes]
rs4893946	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4893950	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4893951	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4893954	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4893957	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4893959	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4893961	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4893962	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57273542	0.83[ASN][1000 genomes]
rs57295810	0.85[ASN][1000 genomes]
rs57527255	0.86[ASN][1000 genomes]
rs57541536	0.86[ASN][1000 genomes]
rs57733896	0.84[ASN][1000 genomes]
rs57948641	0.86[ASN][1000 genomes]
rs58297927	0.86[ASN][1000 genomes]
rs59111239	0.84[ASN][1000 genomes]
rs59421055	0.82[ASN][1000 genomes]
rs59504156	0.85[ASN][1000 genomes]
rs60642012	0.82[ASN][1000 genomes]
rs60670838	0.84[ASN][1000 genomes]
rs6433670	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6433673	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6710575	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6742951	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6761593	0.83[EUR][1000 genomes]
rs7573763	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7586051	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7587604	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7591807	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7604673	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7606235	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7607450	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8941	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs952746	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9679607	0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9789582	0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7565022	DKFZp451M2119	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178295400-178329800	Weak transcription	Pancreas	Pancrea
2	chr2:178295400-178330000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:178295400-178330200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:178296400-178397000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr2:178297800-178329800	Weak transcription	Ovary	ovary
6	chr2:178298800-178329200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr2:178298800-178329800	Weak transcription	Colonic Mucosa	Colon
8	chr2:178298800-178329800	Weak transcription	Thymus	Thymus
9	chr2:178298800-178330200	Weak transcription	Aorta	Aorta
10	chr2:178298800-178330200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:178298800-178331600	Weak transcription	NHDF-Ad	bronchial
12	chr2:178298800-178336800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:178298800-178357800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr2:178299000-178329800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:178299000-178330200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:178299400-178357800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr2:178300800-178331400	Weak transcription	Psoas Muscle	Psoas
18	chr2:178301000-178330200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr2:178301600-178339800	Weak transcription	Small Intestine	intestine
20	chr2:178301800-178339200	Weak transcription	Hela-S3	cervix
21	chr2:178302200-178329400	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr2:178304400-178338800	Weak transcription	HMEC	breast
23	chr2:178305200-178329800	Weak transcription	Esophagus	oesophagus
24	chr2:178305600-178330000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:178305800-178329400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr2:178305800-178330200	Weak transcription	Brain Substantia Nigra	brain
27	chr2:178306000-178331200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr2:178306600-178330400	Weak transcription	Brain Angular Gyrus	brain
29	chr2:178307200-178330200	Weak transcription	NHEK	skin
30	chr2:178307800-178330600	Weak transcription	Osteobl	bone
31	chr2:178308800-178329400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr2:178309200-178329800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:178310200-178320600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:178310800-178330200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr2:178311200-178330200	Weak transcription	Lung	lung
36	chr2:178312200-178321600	Strong transcription	Primary monocytes fromperipheralblood	blood
37	chr2:178313000-178330400	Weak transcription	Right Atrium	heart
38	chr2:178313400-178330200	Weak transcription	HSMMtube	muscle
39	chr2:178313800-178331400	Weak transcription	NH-A	brain
40	chr2:178314000-178320600	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:178314000-178327600	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr2:178314000-178331600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr2:178314200-178330200	Weak transcription	Brain Cingulate Gyrus	brain
44	chr2:178314400-178320600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr2:178314400-178320800	Weak transcription	Liver	Liver
46	chr2:178314400-178320800	Weak transcription	GM12878-XiMat	blood
47	chr2:178314400-178329000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:178314400-178329200	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr2:178314400-178329200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr2:178314400-178329400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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