Variant report

Variant	rs331430
Chromosome Location	chr11:36494773-36494774
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs230485	1.00[YRI][hapmap]
rs2458930	0.93[AFR][1000 genomes]
rs2673018	0.98[AFR][1000 genomes]
rs331431	0.98[AFR][1000 genomes]
rs331438	0.93[AFR][1000 genomes]
rs331458	0.93[YRI][hapmap];0.84[AFR][1000 genomes]
rs331461	1.00[AFR][1000 genomes]
rs331473	0.86[YRI][hapmap]
rs496289	0.92[YRI][hapmap]
rs505296	0.80[AFR][1000 genomes]
rs520074	0.92[YRI][hapmap]
rs692743	0.83[YRI][hapmap];0.93[AFR][1000 genomes]
rs693068	1.00[AFR][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:64 , 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	chr11:36478200-36508800	Weak transcription	Fetal Brain Female	brain
6	chr11:36478600-36506400	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr11:36478800-36505400	Weak transcription	Duodenum Mucosa	Duodenum
8	chr11:36478800-36510400	Weak transcription	Right Ventricle	heart
9	chr11:36478800-36512200	Weak transcription	Colon Smooth Muscle	Colon
10	chr11:36481800-36508600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr11:36484400-36506800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr11:36484800-36505600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:36485000-36499400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr11:36485600-36501400	Weak transcription	Ovary	ovary
15	chr11:36485600-36504800	Weak transcription	Fetal Stomach	stomach
16	chr11:36485800-36506600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr11:36486000-36505600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:36487800-36499000	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:36488200-36495200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr11:36488400-36496800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:36488800-36496800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:36488800-36507400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr11:36489000-36505600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr11:36489200-36495000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr11:36489200-36505400	Weak transcription	Primary monocytes fromperipheralblood	blood
26	chr11:36489200-36510600	Weak transcription	Colonic Mucosa	Colon
27	chr11:36489600-36504800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:36489800-36495200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:36489800-36500000	Weak transcription	Fetal Intestine Large	intestine
30	chr11:36489800-36504800	Weak transcription	Fetal Thymus	thymus
31	chr11:36490000-36530400	Weak transcription	Esophagus	oesophagus
32	chr11:36491000-36505000	Weak transcription	Left Ventricle	heart
33	chr11:36491000-36511200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr11:36491600-36499800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr11:36492200-36505000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:36492400-36500200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:36492400-36500200	Weak transcription	NHDF-Ad	bronchial
38	chr11:36492400-36504800	Weak transcription	Muscle Satellite Cultured Cells	--
39	chr11:36492400-36504800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr11:36492400-36505800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr11:36492600-36495400	Weak transcription	Fetal Lung	lung
42	chr11:36492600-36499000	Weak transcription	Fetal Muscle Leg	muscle
43	chr11:36492600-36500000	Weak transcription	Brain Anterior Caudate	brain
44	chr11:36492600-36500200	Weak transcription	Adipose Nuclei	Adipose
45	chr11:36492600-36504800	Weak transcription	Osteobl	bone
46	chr11:36492600-36505200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:36492600-36505200	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr11:36492600-36505400	Weak transcription	HSMM	muscle
49	chr11:36492600-36506400	Weak transcription	HSMMtube	muscle
50	chr11:36492600-36506800	Weak transcription	Aorta	Aorta

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