Variant report

Variant	rs2282619
Chromosome Location	chr11:71183645-71183646
allele	A/C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:71182002..71184181-chr11:71185465..71188579,3	K562	blood:
2	chr11:71163024..71164713-chr11:71182379..71183959,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172890	Chromatin interaction
ENSG00000172893	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:76)

rs_ID	r²[population]
rs1044535	0.83[EUR][1000 genomes]
rs10751102	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10792743	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10898117	0.83[EUR][1000 genomes]
rs11233606	0.83[EUR][1000 genomes]
rs11608138	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12281481	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1623080	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs1626291	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1790325	0.83[EUR][1000 genomes]
rs1790326	0.83[EUR][1000 genomes]
rs1790327	0.83[EUR][1000 genomes]
rs1790329	0.83[EUR][1000 genomes]
rs1790334	1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1790346	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1790347	0.83[EUR][1000 genomes]
rs1790348	0.83[EUR][1000 genomes]
rs1790351	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1790354	0.83[EUR][1000 genomes]
rs1790355	0.83[EUR][1000 genomes]
rs1790357	0.83[EUR][1000 genomes]
rs1790373	1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1792265	0.83[EUR][1000 genomes]
rs1792268	0.83[EUR][1000 genomes]
rs1792270	0.83[EUR][1000 genomes]
rs1792271	0.83[EUR][1000 genomes]
rs1792272	0.83[EUR][1000 genomes]
rs1792273	0.83[EUR][1000 genomes]
rs1792274	0.83[EUR][1000 genomes]
rs1792275	0.83[EUR][1000 genomes]
rs1792276	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1792279	0.86[EUR][1000 genomes]
rs1792285	0.83[EUR][1000 genomes]
rs1792316	1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1792319	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2002906	1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2155425	1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186773	1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2186778	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276353	1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276354	1.00[JPT][hapmap];0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282617	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2282618	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298772	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2851693	1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3763859	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3763860	1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794065	1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794066	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3794067	1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814731	1.00[JPT][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814734	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944063	1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944064	1.00[JPT][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944075	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4944080	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4944999	0.91[ASN][1000 genomes]
rs4945001	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945007	1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4945013	1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6592154	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6592180	1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110053	0.83[EUR][1000 genomes]
rs7110316	0.83[ASN][1000 genomes]
rs7113783	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7123973	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7124675	0.83[EUR][1000 genomes]
rs7129099	1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs751389	1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs760241	0.83[EUR][1000 genomes]
rs7690	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7926054	1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7950584	1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs949176	0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs949177	1.00[JPT][hapmap];0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs949178	1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	nsv897898	chr11:71103143-71211654	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers 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	14 gene(s)	inside rSNPs	diseases
6	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
7	nsv1037357	chr11:71162241-71209628	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv541085	chr11:71162241-71209628	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1052432	chr11:71167449-71213007	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:71165000-71210000	Weak transcription	Psoas Muscle	Psoas
2	chr11:71165200-71199200	Weak transcription	Right Atrium	heart
3	chr11:71165400-71194200	Weak transcription	Fetal Heart	heart
4	chr11:71165800-71218400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr11:71166000-71194200	Weak transcription	Fetal Brain Male	brain
6	chr11:71167400-71194000	Weak transcription	Fetal Kidney	kidney
7	chr11:71170600-71184600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr11:71170600-71187600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr11:71171000-71184000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr11:71171000-71184200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:71171400-71184200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr11:71171400-71184200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr11:71171400-71184200	Weak transcription	NH-A	brain
14	chr11:71171600-71194000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr11:71171800-71189000	Weak transcription	Stomach Mucosa	stomach
16	chr11:71172200-71195000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr11:71173200-71184000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr11:71174800-71183800	Weak transcription	HMEC	breast
19	chr11:71177800-71188400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:71178000-71184400	Weak transcription	Colon Smooth Muscle	Colon
21	chr11:71178400-71183800	Weak transcription	Right Ventricle	heart
22	chr11:71178400-71192600	Weak transcription	K562	blood
23	chr11:71179600-71190400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:71180400-71184800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr11:71180600-71199000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr11:71180800-71184400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr11:71180800-71197600	Strong transcription	Fetal Intestine Small	intestine
28	chr11:71180800-71198400	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr11:71180800-71199400	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr11:71181400-71217800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr11:71181800-71218000	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr11:71182000-71191200	Strong transcription	Placenta	Placenta
33	chr11:71182000-71197600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr11:71182000-71197800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr11:71182000-71198400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr11:71182000-71198800	Strong transcription	Fetal Muscle Trunk	muscle
37	chr11:71182000-71217600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:71182200-71189200	Strong transcription	Esophagus	oesophagus
39	chr11:71182200-71191600	Strong transcription	Gastric	stomach
40	chr11:71182200-71195800	Strong transcription	Lung	lung
41	chr11:71182200-71197800	Strong transcription	Brain Cingulate Gyrus	brain
42	chr11:71182200-71197800	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr11:71182200-71198000	Strong transcription	Brain Hippocampus Middle	brain
44	chr11:71182200-71198400	Strong transcription	Primary T helper cells PMA-I stimulated	--
45	chr11:71182200-71198400	Strong transcription	Brain Anterior Caudate	brain
46	chr11:71182200-71198600	Strong transcription	Primary T helper cells fromperipheralblood	blood
47	chr11:71182200-71198600	Strong transcription	Fetal Muscle Leg	muscle
48	chr11:71182200-71198600	Strong transcription	Fetal Stomach	stomach
49	chr11:71182200-71211000	Strong transcription	Liver	Liver
50	chr11:71182200-71216000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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