Variant report

Variant	rs2237941
Chromosome Location	chr11:17867818-17867819
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:17867510..17869051-chr11:17875634..17878249,2	K562	blood:
2	chr11:17867031..17869895-chr11:17870240..17872137,3	MCF-7	breast:
3	chr11:17752076..17753447-chr11:17867688..17868717,4	MCF-7	breast:
4	chr11:17865463..17868129-chr11:17879075..17880713,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1015545	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1029499	0.81[JPT][hapmap]
rs2237929	0.90[CHB][hapmap]
rs2237931	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs2237932	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2237933	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2237934	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2237939	0.81[JPT][hapmap]
rs7114572	1.00[AFR][1000 genomes]
rs7117161	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832078	chr11:17780503-17953521	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv1043973	chr11:17781560-17869896	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv897026	chr11:17823296-18084878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17835000-17869400	Weak transcription	Fetal Intestine Small	intestine
2	chr11:17835200-17884200	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr11:17838400-17971600	Weak transcription	Gastric	stomach
4	chr11:17851600-17890800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr11:17852200-17875800	Weak transcription	Esophagus	oesophagus
6	chr11:17853000-17870800	Weak transcription	Spleen	Spleen
7	chr11:17853800-17882400	Weak transcription	Pancreas	Pancrea
8	chr11:17858800-17893200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr11:17860000-17873600	Weak transcription	Right Ventricle	heart
10	chr11:17862200-17868200	Weak transcription	Brain Angular Gyrus	brain
11	chr11:17862200-17868600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:17862200-17889000	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr11:17862200-17895400	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:17863200-17868000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr11:17863800-17886200	Weak transcription	Fetal Intestine Large	intestine
16	chr11:17863800-17939200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr11:17864200-17868200	Weak transcription	Fetal Thymus	thymus
18	chr11:17864400-17894600	Weak transcription	Stomach Smooth Muscle	stomach
19	chr11:17864400-17944800	Weak transcription	Ovary	ovary
20	chr11:17864800-17899400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr11:17865000-17884400	Weak transcription	Brain Hippocampus Middle	brain
22	chr11:17865400-17871800	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr11:17866000-17868000	Strong transcription	HepG2	liver
24	chr11:17866000-17894600	Weak transcription	Adipose Nuclei	Adipose
25	chr11:17866200-17877400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:17866200-17894600	Weak transcription	Liver	Liver
27	chr11:17866400-17868600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:17866400-17869000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr11:17866400-17869000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:17866600-17868000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:17866600-17868000	Enhancers	Hela-S3	cervix
32	chr11:17866600-17868000	Enhancers	HSMM	muscle
33	chr11:17866600-17868200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr11:17866600-17868400	Enhancers	Muscle Satellite Cultured Cells	--
35	chr11:17866600-17868600	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr11:17866600-17868600	Enhancers	HMEC	breast
37	chr11:17866600-17868800	Enhancers	NHLF	lung
38	chr11:17866600-17888800	Weak transcription	Dnd41	blood
39	chr11:17866600-17895400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr11:17866800-17868000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr11:17866800-17868000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr11:17866800-17868000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr11:17866800-17868000	Enhancers	NHDF-Ad	bronchial
44	chr11:17866800-17868000	Enhancers	NHEK	skin
45	chr11:17866800-17868000	Enhancers	Osteobl	bone
46	chr11:17866800-17868800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:17866800-17868800	Enhancers	Brain Anterior Caudate	brain
48	chr11:17866800-17869000	Enhancers	HSMMtube	muscle
49	chr11:17866800-17869000	Enhancers	NH-A	brain
50	chr11:17866800-17869400	Enhancers	Skeletal Muscle Male	skeletal muscle

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