Variant report

Variant	rs12286943
Chromosome Location	chr11:9183753-9183754
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	chr11:9182254..9183881-chr11:9184543..9187161,2	K562	blood:
2	chr11:9182922..9186858-chr11:9284240..9287968,3	K562	blood:

Variant related genes	Relation type
ENSG00000184014	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10769993	0.82[CHB][hapmap];0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs10769994	0.83[ASN][1000 genomes]
rs10769997	0.85[ASN][1000 genomes]
rs10769998	0.85[ASN][1000 genomes]
rs10840202	0.89[CHD][hapmap];0.91[MEX][hapmap]
rs11042200	0.85[ASN][1000 genomes]
rs11042210	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11042214	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12099067	1.00[CEU][hapmap];0.82[CHB][hapmap];0.95[CHD][hapmap];0.86[GIH][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.96[EUR][1000 genomes]
rs12290916	0.81[AMR][1000 genomes]
rs12291375	0.87[ASN][1000 genomes]
rs1353729	0.83[GIH][hapmap];0.82[MEX][hapmap]
rs16906742	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17256375	0.82[CHD][hapmap]
rs2133217	0.86[CHD][hapmap]
rs2291839	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2316088	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2742558	0.83[ASN][1000 genomes]
rs3898554	0.88[JPT][hapmap]
rs4537761	0.89[CHD][hapmap];0.91[MEX][hapmap]
rs4627080	0.80[CHD][hapmap];0.91[MEX][hapmap]
rs56077948	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56216908	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7103596	0.85[CHD][hapmap];0.91[MEX][hapmap]
rs7123970	0.86[CHD][hapmap]
rs7394878	0.86[CHD][hapmap]
rs7395151	0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs7396705	0.83[ASN][1000 genomes]
rs7925418	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7930192	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7930507	0.82[CHD][hapmap]
rs883550	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs956517	1.00[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9888257	0.90[CHD][hapmap]

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	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv33264	chr11:9007612-9311131	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1040049	chr11:9152536-9363488	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv526778	chr11:9159739-9185077	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:9155000-9203400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr11:9161200-9202400	Weak transcription	Small Intestine	intestine
3	chr11:9162000-9191200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr11:9162000-9230600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:9166000-9200600	Weak transcription	Colonic Mucosa	Colon
6	chr11:9167800-9187600	Strong transcription	Placenta	Placenta
7	chr11:9169200-9198400	Weak transcription	Thymus	Thymus
8	chr11:9169400-9186400	Weak transcription	Fetal Intestine Small	intestine
9	chr11:9169600-9238000	Weak transcription	Esophagus	oesophagus
10	chr11:9171800-9191400	Weak transcription	Psoas Muscle	Psoas
11	chr11:9171800-9230200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr11:9172000-9230400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr11:9172200-9197800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr11:9172200-9199600	Weak transcription	Gastric	stomach
15	chr11:9173000-9199400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr11:9173400-9191000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr11:9173400-9199600	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr11:9173600-9199600	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr11:9174000-9184000	Weak transcription	Fetal Thymus	thymus
20	chr11:9174000-9184600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr11:9174000-9184600	Weak transcription	Brain Substantia Nigra	brain
22	chr11:9174000-9194800	Weak transcription	Fetal Kidney	kidney
23	chr11:9174000-9198200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:9174000-9199400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr11:9174000-9225800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:9174200-9187000	Weak transcription	Fetal Brain Female	brain
27	chr11:9174400-9191000	Weak transcription	Fetal Heart	heart
28	chr11:9174800-9184200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:9175800-9193000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr11:9177800-9187000	Weak transcription	Pancreas	Pancrea
31	chr11:9178200-9195400	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:9178600-9190000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr11:9178800-9192200	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr11:9179000-9184600	Strong transcription	Left Ventricle	heart
35	chr11:9180000-9199600	Weak transcription	Aorta	Aorta
36	chr11:9180200-9184600	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr11:9180800-9191200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:9181400-9186400	Strong transcription	Hela-S3	cervix
39	chr11:9182200-9191800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:9182400-9184200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr11:9182400-9184400	Weak transcription	A549	lung
42	chr11:9182400-9185000	Strong transcription	Brain Cingulate Gyrus	brain
43	chr11:9182400-9186400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr11:9182400-9187000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:9182400-9187200	Weak transcription	Brain Angular Gyrus	brain
46	chr11:9182400-9190400	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr11:9182400-9190800	Weak transcription	Fetal Intestine Large	intestine
48	chr11:9182400-9191200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr11:9182400-9225000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr11:9182400-9231800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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