Variant report

Variant	rs56721062
Chromosome Location	chr11:73286376-73286377
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10898919	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11235738	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235740	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235745	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235759	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235775	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11235778	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11235779	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11825028	1.00[ASN][1000 genomes]
rs12269884	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12274589	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12282790	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12282871	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12288934	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12290367	0.89[ASN][1000 genomes]
rs12290835	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12293596	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13328886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3825005	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs57181830	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57536508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57860998	1.00[AMR][1000 genomes]
rs59809325	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59955477	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs59991976	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60038108	1.00[EUR][1000 genomes]
rs60123349	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60349984	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60920919	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs61396858	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61613696	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7131397	0.89[ASN][1000 genomes]
rs9888198	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9888218	0.89[ASN][1000 genomes]
rs9971494	1.00[EUR][1000 genomes];1.00[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	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	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
3	nsv983188	chr11:73273934-73307064	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	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

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73250000-73307800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr11:73251000-73288800	Weak transcription	Thymus	Thymus
3	chr11:73253800-73307000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr11:73263200-73306000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:73263800-73288800	Weak transcription	Colon Smooth Muscle	Colon
6	chr11:73264600-73287000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr11:73265400-73287200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr11:73266600-73307800	Weak transcription	Fetal Intestine Small	intestine
9	chr11:73270600-73288000	Weak transcription	NHLF	lung
10	chr11:73272200-73307600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr11:73274600-73287000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr11:73274600-73287000	Weak transcription	Brain Substantia Nigra	brain
13	chr11:73274800-73290800	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr11:73275200-73286800	Weak transcription	Brain Anterior Caudate	brain
15	chr11:73275200-73287000	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr11:73275400-73288800	Weak transcription	GM12878-XiMat	blood
17	chr11:73275400-73307000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr11:73276200-73287200	Weak transcription	Brain Angular Gyrus	brain
19	chr11:73276400-73287400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:73276400-73289800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:73276400-73296800	Weak transcription	Fetal Muscle Leg	muscle
22	chr11:73276400-73299200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr11:73276400-73307000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr11:73276600-73286800	Weak transcription	Fetal Brain Female	brain
25	chr11:73277200-73299600	Weak transcription	Primary B cells from peripheral blood	blood
26	chr11:73277400-73307800	Weak transcription	Fetal Intestine Large	intestine
27	chr11:73277600-73286800	Weak transcription	Brain Germinal Matrix	brain
28	chr11:73277600-73287200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr11:73277600-73293800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:73278000-73288000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr11:73278200-73289000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr11:73278400-73286800	Weak transcription	Brain Hippocampus Middle	brain
33	chr11:73278600-73287400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:73279200-73288800	Weak transcription	Fetal Thymus	thymus
35	chr11:73279400-73289200	Weak transcription	Primary hematopoietic stem cells	blood
36	chr11:73279400-73307000	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr11:73279600-73291200	Weak transcription	Ovary	ovary
38	chr11:73280000-73289800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr11:73280000-73299400	Weak transcription	Fetal Stomach	stomach
40	chr11:73280200-73289000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr11:73280600-73288800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr11:73280600-73289200	Weak transcription	Primary B cells from cord blood	blood
43	chr11:73280600-73296200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr11:73281400-73289000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:73281600-73288400	Weak transcription	Primary T cells from cord blood	blood
46	chr11:73281600-73288800	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr11:73281600-73307800	Weak transcription	Hela-S3	cervix
48	chr11:73281800-73295400	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr11:73282000-73288000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:73282000-73296800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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