Variant report

Variant	rs12287127
Chromosome Location	chr11:17181964-17181965
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:17181778..17184549-chr11:17240618..17243052,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11024138	0.83[AFR][1000 genomes]
rs11024168	1.00[AFR][1000 genomes]
rs11024169	0.91[AFR][1000 genomes]
rs11024170	1.00[AFR][1000 genomes]
rs11024172	1.00[AFR][1000 genomes]
rs11024176	1.00[AFR][1000 genomes]
rs11024177	1.00[AFR][1000 genomes]
rs12275377	1.00[AFR][1000 genomes]
rs12283841	1.00[AFR][1000 genomes]
rs12285914	0.83[AFR][1000 genomes]
rs12288475	1.00[AFR][1000 genomes]
rs12289881	1.00[AFR][1000 genomes]
rs12291395	0.83[AFR][1000 genomes]
rs12292965	0.83[AFR][1000 genomes]
rs28544981	1.00[AFR][1000 genomes]
rs61761999	0.84[AFR][1000 genomes]
rs61762000	0.91[AFR][1000 genomes]
rs61763070	0.83[AFR][1000 genomes]
rs61763087	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv467711	chr11:17027555-17320797	Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv553568	chr11:17027555-17320797	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv7691	chr11:17151593-17196894	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv469762	chr11:17170690-17320691	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv482905	chr11:17170690-17320691	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:17111600-17182000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr11:17126800-17186400	Weak transcription	Colonic Mucosa	Colon
3	chr11:17130200-17203800	Weak transcription	Aorta	Aorta
4	chr11:17140000-17183400	Weak transcription	Small Intestine	intestine
5	chr11:17144200-17192800	Weak transcription	NHDF-Ad	bronchial
6	chr11:17150800-17186000	Weak transcription	NHLF	lung
7	chr11:17156400-17186400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr11:17156400-17186600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr11:17156600-17182400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr11:17156600-17183600	Weak transcription	Lung	lung
11	chr11:17156600-17219200	Weak transcription	HSMMtube	muscle
12	chr11:17158000-17215600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr11:17164400-17186200	Weak transcription	A549	lung
14	chr11:17165200-17215200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr11:17166200-17190200	Weak transcription	NH-A	brain
16	chr11:17166400-17183600	Weak transcription	Fetal Intestine Small	intestine
17	chr11:17167000-17183800	Weak transcription	Fetal Muscle Leg	muscle
18	chr11:17167000-17184000	Weak transcription	Pancreas	Pancrea
19	chr11:17167000-17186000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr11:17167000-17188600	Weak transcription	Fetal Stomach	stomach
21	chr11:17167000-17188800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr11:17167400-17183000	Weak transcription	Dnd41	blood
23	chr11:17167400-17183400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr11:17167400-17185000	Weak transcription	Ovary	ovary
25	chr11:17167400-17186800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr11:17167400-17190200	Weak transcription	Fetal Muscle Trunk	muscle
27	chr11:17167400-17190400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr11:17167400-17204400	Weak transcription	Thymus	Thymus
29	chr11:17167400-17212600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr11:17167400-17228000	Weak transcription	Fetal Thymus	thymus
31	chr11:17167600-17182200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:17167600-17186400	Weak transcription	HMEC	breast
33	chr11:17168000-17190200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr11:17168200-17183600	Weak transcription	Left Ventricle	heart
35	chr11:17168200-17185000	Weak transcription	Right Ventricle	heart
36	chr11:17168200-17193800	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr11:17169400-17185600	Weak transcription	Hela-S3	cervix
38	chr11:17169400-17190600	Weak transcription	HSMM	muscle
39	chr11:17169800-17183200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:17170800-17186400	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr11:17171400-17186200	Weak transcription	Osteobl	bone
42	chr11:17172200-17184000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:17172600-17214600	Weak transcription	Fetal Brain Female	brain
44	chr11:17173000-17182400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr11:17173000-17183400	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr11:17173000-17186600	Weak transcription	NHEK	skin
47	chr11:17173200-17182000	Weak transcription	Fetal Brain Male	brain
48	chr11:17173600-17190200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr11:17176200-17186200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr11:17176400-17182200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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