Variant report

Variant	rs2572942
Chromosome Location	chr11:9724469-9724470
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:9711206..9713644-chr11:9723105..9725136,2	K562	blood:

Extended variants
information (count: 148 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:144)

rs_ID	r²[population]
rs10770057	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10840290	0.91[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10840291	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10840292	0.87[AFR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11042471	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11042472	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11042473	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11042474	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11042475	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11042476	0.98[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11042477	0.98[ASN][1000 genomes]
rs11042478	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs11042481	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11042482	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11042483	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12271923	0.90[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12272107	0.90[AFR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12272167	0.91[ASN][1000 genomes]
rs12272277	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12275468	0.80[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12280169	0.86[ASN][1000 genomes]
rs12280320	0.92[AFR][1000 genomes];0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12283521	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12291809	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12295129	0.84[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs12789429	0.83[EUR][1000 genomes]
rs12794270	0.84[EUR][1000 genomes]
rs1390679	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1390680	0.91[ASN][1000 genomes]
rs1390681	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1390682	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1390683	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1390684	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1435462	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1496477	0.91[ASN][1000 genomes]
rs1695613	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1874476	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1960386	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1960387	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2010535	0.80[EUR][1000 genomes]
rs2088293	0.91[ASN][1000 genomes]
rs2101902	0.91[ASN][1000 genomes]
rs2132565	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2132566	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2132567	0.92[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2252354	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2336805	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2453831	0.86[ASN][1000 genomes]
rs2453832	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2454611	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2454612	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2572934	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2572935	0.89[AFR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2572936	0.95[ASN][1000 genomes]
rs2572937	0.95[ASN][1000 genomes]
rs2572938	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2572939	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2572940	0.80[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2572941	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2572943	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2572944	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2572945	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2572947	0.82[ASN][1000 genomes]
rs2572948	0.85[ASN][1000 genomes]
rs2572949	0.85[ASN][1000 genomes]
rs2572952	0.83[ASN][1000 genomes]
rs2645007	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2645008	0.85[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2645010	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2645011	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2645012	0.80[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2645014	0.85[ASN][1000 genomes]
rs2645015	0.85[ASN][1000 genomes]
rs2645016	0.85[ASN][1000 genomes]
rs2645018	0.95[ASN][1000 genomes]
rs2645019	0.95[ASN][1000 genomes]
rs2645021	0.98[ASN][1000 genomes]
rs2645022	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2645023	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs2645024	0.91[ASN][1000 genomes]
rs2645025	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2649046	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2649047	0.91[ASN][1000 genomes]
rs2649048	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34043654	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs360044	0.85[ASN][1000 genomes]
rs360045	0.85[ASN][1000 genomes]
rs360046	0.83[ASN][1000 genomes]
rs360048	0.85[ASN][1000 genomes]
rs360050	0.82[ASN][1000 genomes]
rs360052	0.82[ASN][1000 genomes]
rs368731	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs376553	0.91[ASN][1000 genomes]
rs379692	0.91[ASN][1000 genomes]
rs385846	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs389534	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs392815	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs397250	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs397602	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs397686	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs399898	0.86[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs408569	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs413976	0.85[ASN][1000 genomes]
rs414109	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs416766	0.91[ASN][1000 genomes]
rs416804	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs418931	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs419412	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs422061	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs424455	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs428747	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs429546	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs431908	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs435079	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs440523	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs441965	0.88[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs442722	0.88[AFR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs443576	0.88[AFR][1000 genomes];0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs446146	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs447601	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4478983	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs449005	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs452169	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs476163	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs4910491	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4910494	0.84[ASN][1000 genomes]
rs4910495	0.84[ASN][1000 genomes]
rs4910496	0.87[ASN][1000 genomes]
rs534901	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs581004	0.82[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs58960327	0.86[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs60466677	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67598578	0.93[ASN][1000 genomes]
rs7117197	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs72484737	0.88[ASN][1000 genomes]
rs73410140	0.82[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs7935643	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7938818	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7949818	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs892853	0.80[EUR][1000 genomes]
rs892855	0.80[EUR][1000 genomes]
rs920080	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs920081	0.91[ASN][1000 genomes]
rs920082	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933855	chr11:9645441-10130519	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers 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	40 gene(s)	inside rSNPs	diseases
2	nsv1053369	chr11:9647837-9876054	Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv553468	chr11:9667828-9827871	Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1045550	chr11:9718324-9790088	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9710200-9758400	Weak transcription	Psoas Muscle	Psoas
2	chr11:9710400-9732800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:9711200-9732800	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr11:9711400-9754400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr11:9711600-9725800	Weak transcription	HSMMtube	muscle
6	chr11:9711600-9729600	Weak transcription	Fetal Heart	heart
7	chr11:9711600-9730200	Weak transcription	Right Ventricle	heart
8	chr11:9711600-9731400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:9711600-9732800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr11:9711600-9733200	Weak transcription	Aorta	Aorta
11	chr11:9711600-9736600	Weak transcription	Gastric	stomach
12	chr11:9713600-9730000	Weak transcription	NH-A	brain
13	chr11:9715400-9730200	Weak transcription	Pancreas	Pancrea
14	chr11:9715800-9731200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr11:9715800-9732800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr11:9716000-9730200	Weak transcription	Esophagus	oesophagus
17	chr11:9716000-9736600	Weak transcription	NHEK	skin
18	chr11:9716000-9738000	Weak transcription	HMEC	breast
19	chr11:9717600-9725000	Weak transcription	Left Ventricle	heart
20	chr11:9717600-9725000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:9717600-9731200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr11:9717600-9733000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr11:9717600-9736600	Weak transcription	Fetal Stomach	stomach
24	chr11:9717600-9738800	Weak transcription	Fetal Muscle Trunk	muscle
25	chr11:9717600-9739200	Weak transcription	NHLF	lung
26	chr11:9717600-9751000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr11:9717600-9751000	Weak transcription	Ovary	ovary
28	chr11:9717800-9730200	Weak transcription	Fetal Muscle Leg	muscle
29	chr11:9717800-9731000	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr11:9717800-9731600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:9717800-9736200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr11:9717800-9736200	Weak transcription	Fetal Intestine Large	intestine
33	chr11:9718000-9724800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr11:9718200-9724800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr11:9718200-9731200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr11:9718200-9749600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:9718400-9724600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr11:9718400-9725000	Weak transcription	HSMM	muscle
39	chr11:9718400-9731000	Weak transcription	HUES64 Cell Line	embryonic stem cell
40	chr11:9718800-9726200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:9719600-9731000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr11:9719600-9736400	Weak transcription	Placenta	Placenta
43	chr11:9720000-9724600	Enhancers	HUVEC	blood vessel
44	chr11:9720000-9725400	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr11:9720000-9726000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:9720200-9725000	Weak transcription	Fetal Intestine Small	intestine
47	chr11:9720200-9726000	Weak transcription	Spleen	Spleen
48	chr11:9720200-9730200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr11:9720200-9730400	Weak transcription	Lung	lung
50	chr11:9720200-9735000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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