Variant report

Variant	rs1483205
Chromosome Location	chr7:11090922-11090923
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:11088216..11090960-chr7:11126210..11129188,2	K562	blood:

Extended variants
information (count: 127 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:112)

rs_ID	r²[population]
rs10236024	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10251095	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10251185	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10255688	0.89[ASN][1000 genomes]
rs1057436	0.84[ASN][1000 genomes]
rs1154920	0.92[ASN][1000 genomes]
rs1154922	0.92[ASN][1000 genomes]
rs11560245	0.81[ASN][1000 genomes]
rs11762175	0.92[ASN][1000 genomes]
rs11977765	0.80[EUR][1000 genomes]
rs12112674	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13227933	0.89[ASN][1000 genomes]
rs13236926	0.84[ASN][1000 genomes]
rs13238887	0.89[ASN][1000 genomes]
rs13241511	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1483201	0.99[ASN][1000 genomes]
rs1483203	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1483204	0.99[ASN][1000 genomes]
rs1531834	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1547945	0.81[ASN][1000 genomes]
rs1629587	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1636753	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1636754	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1636755	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1636756	0.96[ASN][1000 genomes]
rs1636757	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1640700	0.92[ASN][1000 genomes]
rs1640707	0.91[ASN][1000 genomes]
rs1640710	0.95[ASN][1000 genomes]
rs1681281	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1681284	0.95[ASN][1000 genomes]
rs1681298	0.91[ASN][1000 genomes]
rs1681300	0.91[ASN][1000 genomes]
rs1681302	0.92[ASN][1000 genomes]
rs1681305	0.92[ASN][1000 genomes]
rs1681310	0.95[ASN][1000 genomes]
rs1681312	0.95[ASN][1000 genomes]
rs1833011	0.89[ASN][1000 genomes]
rs190073	0.88[ASN][1000 genomes]
rs2020391	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2108111	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2108114	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs218968	0.91[ASN][1000 genomes]
rs218975	0.92[ASN][1000 genomes]
rs218980	0.92[ASN][1000 genomes]
rs218981	0.92[ASN][1000 genomes]
rs2190294	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2190295	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs220089	0.92[ASN][1000 genomes]
rs220090	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs220092	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs220093	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2214858	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2539823	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2906543	0.89[ASN][1000 genomes]
rs2906544	0.89[ASN][1000 genomes]
rs2906545	0.89[ASN][1000 genomes]
rs2906546	0.89[ASN][1000 genomes]
rs2906547	0.89[ASN][1000 genomes]
rs2906548	0.88[ASN][1000 genomes]
rs2906549	0.87[ASN][1000 genomes]
rs2906550	0.89[ASN][1000 genomes]
rs2906551	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2906552	0.89[ASN][1000 genomes]
rs2906553	0.89[ASN][1000 genomes]
rs2906554	0.88[ASN][1000 genomes]
rs2906555	0.89[ASN][1000 genomes]
rs2906556	0.89[ASN][1000 genomes]
rs2906557	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2906558	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2906559	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2906560	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2906561	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2906562	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2906563	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2906564	0.89[ASN][1000 genomes]
rs2906565	0.87[ASN][1000 genomes]
rs2906566	0.91[ASN][1000 genomes]
rs2995878	0.89[ASN][1000 genomes]
rs2995879	0.89[ASN][1000 genomes]
rs2995880	0.89[ASN][1000 genomes]
rs2995881	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2995884	0.89[ASN][1000 genomes]
rs2995886	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2995898	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2995901	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2995902	0.89[ASN][1000 genomes]
rs2995903	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs35580506	0.93[ASN][1000 genomes]
rs3801437	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3801453	0.89[ASN][1000 genomes]
rs3823875	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4314555	0.89[ASN][1000 genomes]
rs4342485	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4534044	0.89[ASN][1000 genomes]
rs4720938	0.84[ASN][1000 genomes]
rs4720941	0.82[EUR][1000 genomes]
rs6460785	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6943379	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6954805	0.88[ASN][1000 genomes]
rs6957940	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6968425	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6973228	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7781258	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7785008	0.89[ASN][1000 genomes]
rs7790448	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7791995	0.96[ASN][1000 genomes]
rs7806840	0.84[ASN][1000 genomes]
rs7809178	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8180695	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs922901	0.88[ASN][1000 genomes]
rs9986755	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067780	chr7:10649696-11329787	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv491695	chr7:10649696-11329787	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer 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	29 gene(s)	inside rSNPs	diseases
3	nsv1019888	chr7:10712858-11496785	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1029836	chr7:10713523-11492751	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	nsv538730	chr7:10713523-11492751	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv532092	chr7:10731350-11414759	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv1024171	chr7:10810444-11559156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv949387	chr7:10815994-11281536	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
9	nsv1029882	chr7:10872162-11371145	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
10	nsv817291	chr7:10875417-11562683	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
11	nsv1031498	chr7:10882696-11110412	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv1030035	chr7:11027819-11256089	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
13	nsv606194	chr7:11042905-11144078	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
14	nsv887602	chr7:11071993-11220846	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
15	nsv428162	chr7:11085784-11359333	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:11014600-11092000	Weak transcription	Colonic Mucosa	Colon
2	chr7:11014800-11117400	Weak transcription	HSMMtube	muscle
3	chr7:11015200-11108200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr7:11031600-11103800	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:11035800-11092600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:11035800-11113000	Weak transcription	Esophagus	oesophagus
7	chr7:11035800-11113200	Weak transcription	Lung	lung
8	chr7:11035800-11123000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:11036000-11101600	Weak transcription	Placenta	Placenta
10	chr7:11036600-11100800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:11039000-11108800	Weak transcription	Psoas Muscle	Psoas
12	chr7:11046000-11128600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr7:11046200-11175000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:11046600-11103400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr7:11046600-11122600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:11046600-11167800	Weak transcription	Thymus	Thymus
17	chr7:11048200-11098600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:11048200-11113400	Weak transcription	Aorta	Aorta
19	chr7:11054400-11101800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:11054400-11113200	Weak transcription	Pancreas	Pancrea
21	chr7:11057800-11190200	Weak transcription	Fetal Brain Male	brain
22	chr7:11064200-11093600	Weak transcription	Hela-S3	cervix
23	chr7:11064400-11104200	Weak transcription	NHEK	skin
24	chr7:11064400-11112400	Weak transcription	Brain Germinal Matrix	brain
25	chr7:11064400-11112400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr7:11064400-11122800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr7:11064600-11091600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr7:11064600-11101400	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr7:11064600-11101600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr7:11064600-11111800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:11065000-11101600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr7:11065000-11101800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr7:11066400-11106800	Weak transcription	Fetal Kidney	kidney
34	chr7:11066600-11104400	Weak transcription	NHDF-Ad	bronchial
35	chr7:11068400-11102800	Weak transcription	Small Intestine	intestine
36	chr7:11071800-11103800	Weak transcription	Right Ventricle	heart
37	chr7:11071800-11113000	Weak transcription	Fetal Intestine Small	intestine
38	chr7:11071800-11113000	Weak transcription	Fetal Stomach	stomach
39	chr7:11073600-11093600	Weak transcription	NHLF	lung
40	chr7:11076400-11095600	Weak transcription	Fetal Heart	heart
41	chr7:11076400-11101600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr7:11076400-11101600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr7:11076400-11193200	Weak transcription	Ovary	ovary
44	chr7:11076600-11091400	Weak transcription	Fetal Brain Female	brain
45	chr7:11076800-11091200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr7:11076800-11122200	Weak transcription	HMEC	breast
47	chr7:11077000-11091200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr7:11077000-11102800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr7:11077000-11130600	Weak transcription	Stomach Smooth Muscle	stomach
50	chr7:11077000-11162400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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