Variant report

Variant	rs72989263
Chromosome Location	chr11:73558292-73558293
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11235911	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11235918	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11235928	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235950	0.84[AMR][1000 genomes]
rs11235951	0.82[EUR][1000 genomes]
rs11534587	0.85[EUR][1000 genomes]
rs12277859	0.83[ASN][1000 genomes]
rs1474417	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1670536	1.00[ASN][1000 genomes]
rs1792163	1.00[ASN][1000 genomes]
rs3758932	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3758933	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56307666	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5792633	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs57974546	0.88[ASN][1000 genomes]
rs59187119	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60280069	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66465726	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7104794	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130191	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72976884	0.84[ASN][1000 genomes]
rs72982956	0.83[EUR][1000 genomes]
rs72982960	0.82[EUR][1000 genomes]
rs72989216	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72989220	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72989224	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7924705	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7927396	0.84[EUR][1000 genomes]
rs7931143	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7937366	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9666440	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS 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	55 gene(s)	inside rSNPs	diseases
2	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv1038105	chr11:73552023-73673836	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73499600-73583800	Weak transcription	Aorta	Aorta
2	chr11:73500200-73574200	Weak transcription	Right Ventricle	heart
3	chr11:73500400-73571400	Weak transcription	Fetal Brain Male	brain
4	chr11:73500400-73583800	Weak transcription	Colonic Mucosa	Colon
5	chr11:73500800-73558800	Weak transcription	NHEK	skin
6	chr11:73508400-73570600	Weak transcription	Psoas Muscle	Psoas
7	chr11:73508800-73565000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr11:73508800-73573800	Weak transcription	Spleen	Spleen
9	chr11:73508800-73575400	Weak transcription	Gastric	stomach
10	chr11:73517000-73562800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr11:73517000-73565200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:73518400-73584000	Weak transcription	Pancreas	Pancrea
13	chr11:73533000-73580400	Weak transcription	Stomach Mucosa	stomach
14	chr11:73537200-73559800	Weak transcription	Small Intestine	intestine
15	chr11:73537400-73582600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr11:73539000-73577200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:73539200-73574200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:73539200-73583800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr11:73540000-73571200	Weak transcription	NHDF-Ad	bronchial
20	chr11:73540800-73577400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr11:73541600-73567000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:73541800-73574000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr11:73541800-73583600	Weak transcription	Esophagus	oesophagus
24	chr11:73542400-73577400	Weak transcription	HUVEC	blood vessel
25	chr11:73542600-73577200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:73543800-73560400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr11:73548800-73582000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:73549400-73567000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr11:73549800-73562400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr11:73549800-73562600	Weak transcription	Brain Anterior Caudate	brain
31	chr11:73549800-73567200	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:73549800-73583600	Weak transcription	GM12878-XiMat	blood
33	chr11:73550000-73563000	Weak transcription	Brain Angular Gyrus	brain
34	chr11:73550000-73567000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr11:73550000-73567000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:73550000-73567000	Weak transcription	Primary B cells from cord blood	blood
37	chr11:73550000-73574000	Weak transcription	A549	lung
38	chr11:73550000-73577200	Weak transcription	HSMMtube	muscle
39	chr11:73550400-73565400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:73550400-73565600	Weak transcription	Osteobl	bone
41	chr11:73550400-73574200	Weak transcription	HSMM	muscle
42	chr11:73550400-73577200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr11:73550400-73577200	Weak transcription	NH-A	brain
44	chr11:73550400-73582400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr11:73550600-73562400	Weak transcription	Fetal Heart	heart
46	chr11:73552200-73558400	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr11:73552200-73558600	Strong transcription	Monocytes-CD14+_RO01746	blood
48	chr11:73553000-73558400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:73553000-73558800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:73553000-73559000	Strong transcription	Fetal Intestine Large	intestine

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