Variant report

Variant	rs12793749
Chromosome Location	chr11:36251356-36251357
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:36247801..36249504-chr11:36251236..36253032,2	K562	blood:
2	chr11:36247801..36250240-chr11:36251236..36253769,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs16928578	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34454619	0.87[AMR][1000 genomes]
rs57433104	0.85[AMR][1000 genomes]
rs7109078	0.87[AMR][1000 genomes]
rs73441314	0.85[AMR][1000 genomes]
rs73441327	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:36218000-36252200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:36234800-36254000	Weak transcription	Right Atrium	heart
3	chr11:36235800-36260400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:36236800-36273200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:36239800-36252200	Weak transcription	Hela-S3	cervix
6	chr11:36240400-36253800	Weak transcription	Psoas Muscle	Psoas
7	chr11:36243800-36254800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:36244400-36251800	Weak transcription	Brain Hippocampus Middle	brain
9	chr11:36244600-36251800	Weak transcription	Brain Anterior Caudate	brain
10	chr11:36244600-36251800	Weak transcription	Brain Cingulate Gyrus	brain
11	chr11:36244600-36253800	Weak transcription	Brain Angular Gyrus	brain
12	chr11:36245000-36252200	Weak transcription	Fetal Lung	lung
13	chr11:36245000-36253400	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr11:36245000-36260800	Weak transcription	Fetal Brain Male	brain
15	chr11:36245200-36252800	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr11:36245200-36261400	Weak transcription	NHEK	skin
17	chr11:36246400-36252400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr11:36246800-36257400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:36247000-36253800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:36247400-36251800	Weak transcription	Gastric	stomach
21	chr11:36247400-36252400	Weak transcription	HUVEC	blood vessel
22	chr11:36247800-36253000	Strong transcription	Fetal Muscle Leg	muscle
23	chr11:36247800-36253600	Weak transcription	Brain Substantia Nigra	brain
24	chr11:36248200-36252600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr11:36248400-36251600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:36248600-36252000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr11:36248600-36252200	Strong transcription	Fetal Intestine Small	intestine
28	chr11:36248600-36252600	Strong transcription	Fetal Stomach	stomach
29	chr11:36248800-36251800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr11:36248800-36252000	Strong transcription	Adipose Nuclei	Adipose
31	chr11:36248800-36257600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:36249000-36254800	Weak transcription	Brain Germinal Matrix	brain
33	chr11:36249000-36262800	Weak transcription	Spleen	Spleen
34	chr11:36249200-36251800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr11:36249200-36252400	Weak transcription	Ovary	ovary
36	chr11:36249200-36254000	Weak transcription	Stomach Smooth Muscle	stomach
37	chr11:36249400-36252000	Weak transcription	Esophagus	oesophagus
38	chr11:36249400-36252200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr11:36249600-36252400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr11:36249600-36259800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr11:36249800-36252200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr11:36249800-36253000	Weak transcription	Fetal Intestine Large	intestine
43	chr11:36250000-36251800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
44	chr11:36250000-36252400	Genic enhancers	HSMMtube	muscle
45	chr11:36250200-36251800	Weak transcription	Fetal Brain Female	brain
46	chr11:36250200-36252000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:36250200-36255600	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr11:36250400-36251800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:36250400-36252200	Weak transcription	HSMM	muscle
50	chr11:36250400-36252600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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