Variant report

Variant	rs12289509
Chromosome Location	chr11:47000574-47000575
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10437654	1.00[AMR][1000 genomes]
rs11039030	0.86[YRI][hapmap]
rs11039039	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039058	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11039078	0.92[YRI][hapmap]
rs11039082	0.92[YRI][hapmap]
rs12276601	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12278549	0.93[YRI][hapmap]
rs12281521	0.93[YRI][hapmap];0.90[AFR][1000 genomes]
rs12294201	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61255519	1.00[AMR][1000 genomes]
rs7108434	0.92[YRI][hapmap]
rs7122075	0.81[AFR][1000 genomes]
rs73460061	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73460079	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7940797	0.87[AFR][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	esv1805201	chr11:46971012-47063429	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv1819852	chr11:46971012-47064542	Enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46971600-47006600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:46974200-47008400	Weak transcription	Primary T cells from cord blood	blood
3	chr11:46980600-47014000	Weak transcription	Aorta	Aorta
4	chr11:46980600-47021000	Weak transcription	Ovary	ovary
5	chr11:46980600-47026000	Weak transcription	HSMM	muscle
6	chr11:46981200-47023400	Weak transcription	Primary B cells from peripheral blood	blood
7	chr11:46983000-47024000	Weak transcription	Primary B cells from cord blood	blood
8	chr11:46989200-47026000	Weak transcription	Dnd41	blood
9	chr11:46994000-47026000	Weak transcription	Colonic Mucosa	Colon
10	chr11:46994200-47004800	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr11:46994200-47021000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr11:46994400-47014800	Weak transcription	Esophagus	oesophagus
13	chr11:46995400-47004400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:46996000-47006600	Weak transcription	Fetal Intestine Small	intestine
15	chr11:46996000-47011400	Weak transcription	Pancreas	Pancrea
16	chr11:46996000-47025800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr11:46997000-47002200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr11:46997400-47002200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr11:46997600-47000800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:46998800-47001200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr11:46998800-47004800	Weak transcription	Fetal Intestine Large	intestine
22	chr11:46998800-47023200	Weak transcription	Fetal Brain Male	brain
23	chr11:46999000-47005000	Weak transcription	Small Intestine	intestine
24	chr11:46999000-47010600	Weak transcription	Fetal Muscle Leg	muscle
25	chr11:46999000-47019400	Weak transcription	Fetal Stomach	stomach
26	chr11:46999200-47001000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr11:46999200-47010000	Weak transcription	Fetal Brain Female	brain
28	chr11:46999400-47000600	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr11:46999400-47001000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr11:46999400-47002000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr11:46999600-47002200	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr11:46999600-47011000	Weak transcription	Fetal Lung	lung
33	chr11:46999600-47013000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:46999600-47023600	Weak transcription	Stomach Smooth Muscle	stomach
35	chr11:46999800-47001000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:46999800-47005200	Weak transcription	Stomach Mucosa	stomach
37	chr11:46999800-47005400	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr11:47000000-47000800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:47000000-47002400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr11:47000000-47004800	Weak transcription	K562	blood
41	chr11:47000000-47008400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr11:47000000-47008400	Weak transcription	Brain Germinal Matrix	brain
43	chr11:47000000-47008600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:47000000-47010800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:47000000-47011200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:47000000-47012800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr11:47000000-47024600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr11:47000200-47000800	Enhancers	Primary hematopoietic stem cells	blood
49	chr11:47000200-47008400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr11:47000200-47025200	Weak transcription	NH-A	brain

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