Variant report

Variant	rs11600723
Chromosome Location	chr11:120249395-120249396
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	chr11:120243305..120247442-chr11:120248031..120252040,4	K562	blood:
2	chr11:120248045..120250205-chr11:120253387..120255694,2	K562	blood:

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10502236	0.94[EUR][1000 genomes]
rs10892573	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10892579	0.90[EUR][1000 genomes]
rs10892580	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10892581	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217837	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11217847	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217853	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11217859	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217860	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217861	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11217865	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217868	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217869	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217871	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217872	0.91[EUR][1000 genomes]
rs11217873	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217879	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217881	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217883	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217889	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217890	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11600200	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11600558	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11602796	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606928	1.00[ASN][1000 genomes]
rs11607944	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11820277	1.00[ASN][1000 genomes]
rs12361340	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12361642	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362794	0.86[EUR][1000 genomes]
rs12363974	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12363975	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2120430	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35912781	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4537767	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56329702	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs57912596	0.94[EUR][1000 genomes]
rs61072783	1.00[ASN][1000 genomes]
rs61898267	1.00[ASN][1000 genomes]
rs61898282	1.00[ASN][1000 genomes]
rs61898283	1.00[ASN][1000 genomes]
rs61898284	1.00[ASN][1000 genomes]
rs61898287	1.00[ASN][1000 genomes]
rs61898768	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61900794	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61900795	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67551874	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67617613	0.90[EUR][1000 genomes]
rs7108596	0.94[EUR][1000 genomes]
rs7110955	0.91[EUR][1000 genomes]
rs7120040	0.85[EUR][1000 genomes]
rs7120174	0.88[EUR][1000 genomes]
rs73582205	1.00[ASN][1000 genomes]
rs73584117	1.00[ASN][1000 genomes]
rs73584140	1.00[ASN][1000 genomes]
rs73584846	1.00[ASN][1000 genomes]
rs73584849	1.00[ASN][1000 genomes]
rs73584865	1.00[ASN][1000 genomes]
rs747419	0.92[EUR][1000 genomes]
rs766894	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7943147	0.92[EUR][1000 genomes]
rs7948299	0.91[EUR][1000 genomes]
rs9625	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9666435	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9666441	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054057	chr11:119781953-120519770	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv541178	chr11:119781953-120519770	Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv529003	chr11:120209386-120355230	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1050935	chr11:120224544-120276373	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv1036694	chr11:120230243-120285603	Enhancers ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1037573	chr11:120230243-120286918	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv1047982	chr11:120238962-120276373	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1050789	chr11:120238962-120286918	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv1046430	chr11:120238962-120294026	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv1043248	chr11:120238962-120299598	Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv1051672	chr11:120238962-120314178	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv1050709	chr11:120246224-120276373	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv1051783	chr11:120246224-120314178	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120217600-120257000	Weak transcription	HSMM	muscle
2	chr11:120224800-120260800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:120225200-120251000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr11:120232000-120274800	Weak transcription	Ovary	ovary
5	chr11:120234600-120250200	Weak transcription	Osteobl	bone
6	chr11:120235600-120252400	Weak transcription	Fetal Lung	lung
7	chr11:120239200-120252200	Weak transcription	Psoas Muscle	Psoas
8	chr11:120239200-120253800	Weak transcription	Right Atrium	heart
9	chr11:120239800-120250200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:120243800-120249600	Weak transcription	Liver	Liver
11	chr11:120245000-120254200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr11:120245200-120251000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:120246000-120252800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr11:120246000-120252800	Weak transcription	A549	lung
15	chr11:120247800-120256000	Weak transcription	Brain Angular Gyrus	brain
16	chr11:120248200-120249600	ZNF genes & repeats	K562	blood
17	chr11:120248200-120251200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr11:120248200-120254200	Weak transcription	Pancreas	Pancrea
19	chr11:120248400-120249400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:120248400-120250600	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:120248400-120251200	Weak transcription	Right Ventricle	heart
22	chr11:120248400-120251200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr11:120248400-120254200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr11:120248400-120254400	Weak transcription	Fetal Heart	heart
25	chr11:120248600-120250200	Weak transcription	Rectal Smooth Muscle	rectum
26	chr11:120248800-120249400	ZNF genes & repeats	NHDF-Ad	bronchial
27	chr11:120248800-120249600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:120248800-120249600	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr11:120248800-120249800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr11:120248800-120249800	ZNF genes & repeats	NHEK	skin
31	chr11:120248800-120251200	Weak transcription	Left Ventricle	heart
32	chr11:120249000-120249400	ZNF genes & repeats	Brain Hippocampus Middle	brain
33	chr11:120249000-120249600	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
34	chr11:120249000-120251000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr11:120249200-120249600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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