Variant report

Variant	rs11607944
Chromosome Location	chr11:120282566-120282567
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:120275592..120278330-chr11:120282210..120284903,2	K562	blood:
2	chr11:120279981..120282622-chr11:120292960..120295557,2	K562	blood:

Variant related genes	Relation type
ENSG00000196914	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10502236	0.98[EUR][1000 genomes]
rs10892573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10892579	0.93[EUR][1000 genomes]
rs10892580	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10892581	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217837	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11217847	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217853	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11217859	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217860	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217861	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11217865	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217868	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217869	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217871	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217872	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11217873	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217879	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217881	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217883	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217889	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11217890	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11600200	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11600558	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11600723	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11602796	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11606928	1.00[ASN][1000 genomes]
rs11820277	1.00[ASN][1000 genomes]
rs12361340	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12361642	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12362794	0.90[EUR][1000 genomes]
rs12363974	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12363975	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2120430	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35912781	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4537767	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56329702	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs57912596	0.81[AMR][1000 genomes];0.98[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	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61900794	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61900795	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67551874	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67617613	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7108596	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7110955	0.95[EUR][1000 genomes]
rs7120040	0.89[EUR][1000 genomes]
rs7120174	0.91[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	0.95[EUR][1000 genomes]
rs766894	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7943147	0.95[EUR][1000 genomes]
rs7948299	0.95[EUR][1000 genomes]
rs9625	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9666435	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9666441	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:120265800-120295600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:120269200-120295200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr11:120269400-120283000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:120270400-120292200	Weak transcription	Fetal Stomach	stomach
5	chr11:120271600-120300200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:120272000-120283000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr11:120272000-120287000	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr11:120272000-120287000	Weak transcription	Fetal Muscle Leg	muscle
9	chr11:120272000-120288400	Weak transcription	Aorta	Aorta
10	chr11:120272000-120291200	Weak transcription	Fetal Muscle Trunk	muscle
11	chr11:120272000-120291400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr11:120272000-120302400	Weak transcription	Brain Anterior Caudate	brain
13	chr11:120272200-120283000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr11:120272200-120291400	Weak transcription	GM12878-XiMat	blood
15	chr11:120272200-120292600	Weak transcription	Stomach Smooth Muscle	stomach
16	chr11:120272200-120292800	Weak transcription	Fetal Kidney	kidney
17	chr11:120272200-120295200	Weak transcription	Brain Angular Gyrus	brain
18	chr11:120272200-120295200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr11:120272200-120299000	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr11:120272200-120315600	Weak transcription	Brain Germinal Matrix	brain
21	chr11:120272200-120315800	Weak transcription	Brain Hippocampus Middle	brain
22	chr11:120272400-120283800	Weak transcription	Fetal Lung	lung
23	chr11:120272400-120284200	Weak transcription	Colon Smooth Muscle	Colon
24	chr11:120272400-120288600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr11:120272400-120290400	Weak transcription	Fetal Intestine Large	intestine
26	chr11:120272400-120292200	Weak transcription	Fetal Intestine Small	intestine
27	chr11:120272400-120320600	Weak transcription	Psoas Muscle	Psoas
28	chr11:120272600-120283400	Weak transcription	NHDF-Ad	bronchial
29	chr11:120272600-120283800	Weak transcription	NH-A	brain
30	chr11:120272600-120288800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:120272800-120283800	Weak transcription	Osteobl	bone
32	chr11:120272800-120284200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr11:120273400-120284000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr11:120273600-120283800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr11:120274200-120295600	Weak transcription	Pancreas	Pancrea
36	chr11:120274800-120292400	Weak transcription	HepG2	liver
37	chr11:120274800-120294800	Weak transcription	A549	lung
38	chr11:120274800-120295200	Weak transcription	Small Intestine	intestine
39	chr11:120275000-120284000	Weak transcription	HSMMtube	muscle
40	chr11:120275400-120285400	Weak transcription	Left Ventricle	heart
41	chr11:120275400-120295200	Weak transcription	Brain Cingulate Gyrus	brain
42	chr11:120275600-120295200	Weak transcription	Ovary	ovary
43	chr11:120275600-120295400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr11:120275600-120302400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr11:120275600-120302600	Weak transcription	K562	blood
46	chr11:120275600-120322200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr11:120275800-120285800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr11:120275800-120291400	Weak transcription	Adipose Nuclei	Adipose
49	chr11:120275800-120291400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr11:120275800-120300200	Weak transcription	HUES6 Cell Line	embryonic stem cell

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