Variant report

Variant	rs12801958
Chromosome Location	chr11:9725225-9725226
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10770056	0.88[EUR][1000 genomes]
rs10770057	0.84[EUR][1000 genomes]
rs10840283	1.00[ASN][1000 genomes]
rs10840284	1.00[ASN][1000 genomes]
rs10840286	1.00[ASN][1000 genomes]
rs10840287	1.00[ASN][1000 genomes]
rs11042457	1.00[ASN][1000 genomes]
rs11042462	1.00[ASN][1000 genomes]
rs11042464	1.00[ASN][1000 genomes]
rs11042466	1.00[ASN][1000 genomes]
rs11042467	1.00[ASN][1000 genomes]
rs11042476	0.81[EUR][1000 genomes]
rs11042486	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11600183	1.00[ASN][1000 genomes]
rs11601008	1.00[ASN][1000 genomes]
rs11603527	1.00[ASN][1000 genomes]
rs11607321	1.00[ASN][1000 genomes]
rs11607900	1.00[ASN][1000 genomes]
rs12291809	0.83[EUR][1000 genomes]
rs12362879	1.00[ASN][1000 genomes]
rs12364089	1.00[ASN][1000 genomes]
rs12421878	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12786236	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12789209	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12789429	1.00[ASN][1000 genomes]
rs12794270	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12797744	1.00[ASN][1000 genomes]
rs12803440	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12805683	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12807017	1.00[ASN][1000 genomes]
rs2010535	0.82[EUR][1000 genomes]
rs2117698	0.88[EUR][1000 genomes]
rs2117699	0.85[EUR][1000 genomes]
rs2164311	0.90[EUR][1000 genomes]
rs34043654	0.83[EUR][1000 genomes]
rs34063054	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35806232	1.00[ASN][1000 genomes]
rs360047	0.90[EUR][1000 genomes]
rs360049	0.80[EUR][1000 genomes]
rs36089180	1.00[ASN][1000 genomes]
rs424455	0.80[EUR][1000 genomes]
rs435079	0.81[EUR][1000 genomes]
rs476163	0.81[EUR][1000 genomes]
rs4910060	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910486	1.00[ASN][1000 genomes]
rs4910487	1.00[ASN][1000 genomes]
rs4910488	1.00[ASN][1000 genomes]
rs4910492	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910493	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4910497	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4993191	0.94[EUR][1000 genomes]
rs56043731	1.00[ASN][1000 genomes]
rs581004	0.81[EUR][1000 genomes]
rs61878110	0.85[EUR][1000 genomes]
rs67867011	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7116226	0.86[EUR][1000 genomes]
rs72852112	1.00[ASN][1000 genomes]
rs892851	0.94[EUR][1000 genomes]
rs892852	0.94[EUR][1000 genomes]
rs892853	0.82[EUR][1000 genomes]
rs892855	0.82[EUR][1000 genomes]
rs892856	0.94[EUR][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:106 , 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	chr11:9717600-9731200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr11:9717600-9733000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr11:9717600-9736600	Weak transcription	Fetal Stomach	stomach
22	chr11:9717600-9738800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr11:9717600-9739200	Weak transcription	NHLF	lung
24	chr11:9717600-9751000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr11:9717600-9751000	Weak transcription	Ovary	ovary
26	chr11:9717800-9730200	Weak transcription	Fetal Muscle Leg	muscle
27	chr11:9717800-9731000	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr11:9717800-9731600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:9717800-9736200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:9717800-9736200	Weak transcription	Fetal Intestine Large	intestine
31	chr11:9718200-9731200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr11:9718200-9749600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:9718400-9731000	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:9718800-9726200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr11:9719600-9731000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr11:9719600-9736400	Weak transcription	Placenta	Placenta
37	chr11:9720000-9725400	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr11:9720000-9726000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:9720200-9726000	Weak transcription	Spleen	Spleen
40	chr11:9720200-9730200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:9720200-9730400	Weak transcription	Lung	lung
42	chr11:9720200-9735000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:9721800-9725800	Enhancers	Primary T cells from cord blood	blood
44	chr11:9722000-9732800	Weak transcription	Right Atrium	heart
45	chr11:9722200-9725400	Enhancers	Brain Hippocampus Middle	brain
46	chr11:9722400-9733000	Weak transcription	Stomach Smooth Muscle	stomach
47	chr11:9722400-9733000	Weak transcription	Hela-S3	cervix
48	chr11:9723000-9725400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr11:9723200-9725400	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr11:9723400-9725400	Enhancers	Primary T helper cells PMA-I stimulated	--

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