Variant report

Variant	rs331431
Chromosome Location	chr11:36489733-36489734
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	chr11:36484356..36487106-chr11:36488282..36491848,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1515062	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2173394	1.00[EUR][1000 genomes]
rs230485	0.90[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2458930	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2673017	1.00[EUR][1000 genomes]
rs2673018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331430	0.98[AFR][1000 genomes]
rs331438	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331449	1.00[AMR][1000 genomes]
rs331451	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331452	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331458	0.85[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331461	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331473	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs331475	1.00[AMR][1000 genomes]
rs34340782	1.00[EUR][1000 genomes]
rs34574486	1.00[EUR][1000 genomes]
rs34608958	1.00[EUR][1000 genomes]
rs496289	0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs505296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs510479	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs520074	0.83[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60287310	1.00[EUR][1000 genomes]
rs6484862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs692743	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs693068	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7109588	1.00[EUR][1000 genomes]
rs7125448	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467791	chr11:36108497-36999385	Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv554003	chr11:36108497-36999385	ZNF genes & repeats Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1046452	chr11:36460958-36503079	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36471800-36506800	Weak transcription	Gastric	stomach
2	chr11:36471800-36506800	Weak transcription	Pancreas	Pancrea
3	chr11:36473200-36505600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr11:36474800-36511000	Weak transcription	Fetal Kidney	kidney
5	chr11:36478200-36489800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:36478200-36508800	Weak transcription	Fetal Brain Female	brain
7	chr11:36478400-36491600	Weak transcription	Brain Angular Gyrus	brain
8	chr11:36478600-36490800	Weak transcription	Right Atrium	heart
9	chr11:36478600-36506400	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr11:36478800-36491200	Weak transcription	NHDF-Ad	bronchial
11	chr11:36478800-36491600	Weak transcription	Brain Anterior Caudate	brain
12	chr11:36478800-36492200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:36478800-36505400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:36478800-36510400	Weak transcription	Right Ventricle	heart
15	chr11:36478800-36512200	Weak transcription	Colon Smooth Muscle	Colon
16	chr11:36480600-36490800	Weak transcription	Lung	lung
17	chr11:36481800-36508600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr11:36482800-36491200	Weak transcription	Fetal Lung	lung
19	chr11:36484400-36492200	Weak transcription	Aorta	Aorta
20	chr11:36484400-36506800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr11:36484800-36491400	Weak transcription	Brain Hippocampus Middle	brain
22	chr11:36484800-36505600	Weak transcription	Stomach Smooth Muscle	stomach
23	chr11:36485000-36499400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr11:36485600-36491600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr11:36485600-36501400	Weak transcription	Ovary	ovary
26	chr11:36485600-36504800	Weak transcription	Fetal Stomach	stomach
27	chr11:36485800-36490600	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr11:36485800-36490800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr11:36485800-36491200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr11:36485800-36491400	Weak transcription	Adipose Nuclei	Adipose
31	chr11:36485800-36506600	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr11:36486000-36491200	Weak transcription	HSMMtube	muscle
33	chr11:36486000-36505600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr11:36486800-36489800	Strong transcription	Fetal Intestine Small	intestine
35	chr11:36487000-36489800	Weak transcription	Osteobl	bone
36	chr11:36487200-36490800	Weak transcription	NHLF	lung
37	chr11:36487400-36490000	Enhancers	Esophagus	oesophagus
38	chr11:36487400-36490800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr11:36487400-36491000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr11:36487600-36489800	Weak transcription	NH-A	brain
41	chr11:36487600-36490600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr11:36487800-36499000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr11:36488000-36489800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr11:36488000-36491800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr11:36488200-36491600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr11:36488200-36495200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:36488400-36496800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr11:36488600-36489800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:36488800-36490000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:36488800-36496800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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