Variant report

Variant	rs12281481
Chromosome Location	chr11:71214904-71214905
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71205951..71209347-chr11:71211780..71215363,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172890	Chromatin interaction

Extended variants
information (count: 87 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs1044535	0.88[EUR][1000 genomes]
rs10751102	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10792743	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898117	0.88[EUR][1000 genomes]
rs11233606	0.88[EUR][1000 genomes]
rs11608138	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1623080	0.80[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs1626291	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1790325	0.88[EUR][1000 genomes]
rs1790326	0.88[EUR][1000 genomes]
rs1790327	0.88[EUR][1000 genomes]
rs1790329	0.88[EUR][1000 genomes]
rs1790334	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1790346	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790347	0.88[EUR][1000 genomes]
rs1790348	0.88[EUR][1000 genomes]
rs1790351	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1790354	0.88[EUR][1000 genomes]
rs1790355	0.88[EUR][1000 genomes]
rs1790356	0.83[EUR][1000 genomes]
rs1790357	0.88[EUR][1000 genomes]
rs1790373	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1792265	0.88[EUR][1000 genomes]
rs1792268	0.88[EUR][1000 genomes]
rs1792270	0.88[EUR][1000 genomes]
rs1792271	0.88[EUR][1000 genomes]
rs1792272	0.88[EUR][1000 genomes]
rs1792273	0.88[EUR][1000 genomes]
rs1792274	0.88[EUR][1000 genomes]
rs1792275	0.88[EUR][1000 genomes]
rs1792276	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1792279	0.91[EUR][1000 genomes]
rs1792285	0.88[EUR][1000 genomes]
rs1792316	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1792319	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2002906	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2155425	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186773	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2186778	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276353	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276354	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282617	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282618	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282619	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298772	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851693	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3763859	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763860	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794065	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794066	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794067	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814731	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814734	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944063	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944064	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944075	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944080	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4944999	0.91[ASN][1000 genomes]
rs4945001	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945007	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945013	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6592154	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592180	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110053	0.88[EUR][1000 genomes]
rs7110316	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7113783	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7123973	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124675	0.88[EUR][1000 genomes]
rs7129099	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs751389	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs760241	0.88[EUR][1000 genomes]
rs7690	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7926054	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950584	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs949176	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs949177	0.81[AFR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs949178	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048123	chr11:70795222-71231382	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv526973	chr11:71088949-71215880	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
3	nsv897897	chr11:71088949-71217571	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
4	nsv530623	chr11:71088949-72020418	Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	134 gene(s)	inside rSNPs	diseases
5	nsv519224	chr11:71108341-71215880	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	14 gene(s)	inside rSNPs	diseases
6	nsv468632	chr11:71200320-71289089	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv555402	chr11:71200320-71289089	Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv3471041	chr11:71212614-71215837	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	esv3471052	chr11:71212614-71215837	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	esv20567	chr11:71212774-71215694	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71165800-71218400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr11:71181400-71217800	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr11:71181800-71218000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr11:71182000-71217600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:71182200-71216000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:71182200-71216200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr11:71182200-71216200	Strong transcription	Rectal Mucosa Donor 31	rectum
8	chr11:71182200-71217800	Strong transcription	Primary T cells from cord blood	blood
9	chr11:71182400-71217200	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr11:71182400-71217600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr11:71182400-71217800	Strong transcription	Duodenum Mucosa	Duodenum
12	chr11:71182800-71216400	Strong transcription	Stomach Smooth Muscle	stomach
13	chr11:71189800-71218400	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:71199400-71215600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr11:71199600-71216400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr11:71199600-71218400	Strong transcription	Fetal Intestine Small	intestine
17	chr11:71200000-71215000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:71200000-71216000	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr11:71200200-71216000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr11:71200200-71216400	Strong transcription	Primary B cells from peripheral blood	blood
21	chr11:71200200-71217400	Strong transcription	Fetal Intestine Large	intestine
22	chr11:71200400-71216200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr11:71200400-71216400	Strong transcription	Primary T helper cells PMA-I stimulated	--
24	chr11:71200800-71215400	Strong transcription	Placenta	Placenta
25	chr11:71200800-71216800	Weak transcription	Fetal Kidney	kidney
26	chr11:71201000-71215200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:71201000-71216200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:71201200-71215400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:71201800-71216400	Strong transcription	Ovary	ovary
30	chr11:71203200-71215200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr11:71203400-71216800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr11:71205200-71215600	Strong transcription	Colonic Mucosa	Colon
33	chr11:71205200-71215600	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr11:71205200-71216000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:71206400-71215400	Strong transcription	Aorta	Aorta
36	chr11:71207200-71215800	Strong transcription	Pancreas	Pancrea
37	chr11:71207800-71215400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr11:71207800-71215800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr11:71209400-71218800	Weak transcription	Small Intestine	intestine
40	chr11:71209600-71215200	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr11:71210200-71217600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr11:71210400-71215200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr11:71210400-71216000	Strong transcription	Dnd41	blood
44	chr11:71210400-71217800	Weak transcription	Osteobl	bone
45	chr11:71210400-71220200	Weak transcription	NHEK	skin
46	chr11:71210600-71215400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr11:71210600-71219200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:71210800-71215800	Strong transcription	Thymus	Thymus
49	chr11:71211000-71215400	Weak transcription	Right Atrium	heart
50	chr11:71211400-71215400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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