Variant report

Variant	rs2145794
Chromosome Location	chr11:34354913-34354914
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34353541..34355614-chr11:34357152..34360138,2	MCF-7	breast:
2	chr11:34351980..34355833-chr11:34364485..34369065,5	MCF-7	breast:
3	chr11:34352862..34355628-chr11:34375081..34377214,3	MCF-7	breast:
4	chr11:34340006..34344767-chr11:34350658..34354959,5	MCF-7	breast:
5	chr11:34346331..34348538-chr11:34354788..34356481,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000254708	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10742313	0.86[ASN][1000 genomes]
rs10768059	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs10768060	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs10768061	0.96[ASN][1000 genomes]
rs10768062	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs10768063	1.00[CHB][hapmap];0.90[CHD][hapmap];0.91[JPT][hapmap];0.96[ASN][1000 genomes]
rs10768064	0.94[ASN][1000 genomes]
rs10768065	1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs10768066	1.00[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs10768067	0.94[ASN][1000 genomes]
rs10768068	0.94[ASN][1000 genomes]
rs10836186	1.00[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs10836187	0.96[ASN][1000 genomes]
rs10836189	0.92[ASN][1000 genomes]
rs10836190	1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[ASN][1000 genomes]
rs10836191	0.96[ASN][1000 genomes]
rs10836194	0.84[ASN][1000 genomes]
rs10836195	0.94[ASN][1000 genomes]
rs11032617	0.83[CHB][hapmap];0.90[JPT][hapmap];0.84[ASN][1000 genomes]
rs11032618	0.82[CHB][hapmap];0.85[CHD][hapmap];0.90[JPT][hapmap];0.83[ASN][1000 genomes]
rs11032621	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs11032624	1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs11032625	0.94[ASN][1000 genomes]
rs1267466	0.88[GIH][hapmap]
rs1810506	0.94[ASN][1000 genomes]
rs1810507	0.94[ASN][1000 genomes]
rs1883736	1.00[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs1977109	0.86[ASN][1000 genomes]
rs2001176	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs2092485	0.94[ASN][1000 genomes]
rs3981191	0.94[ASN][1000 genomes]
rs3981192	0.94[ASN][1000 genomes]
rs4140544	0.94[CHB][hapmap];0.80[CHD][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs4993520	0.94[ASN][1000 genomes]
rs7929828	1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs7944461	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs910088	0.94[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	esv2757435	chr11:34220504-34370236	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	esv2759816	chr11:34220504-34370236	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv2753052	chr11:34247462-34358300	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv897205	chr11:34248229-34507213	Enhancers Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv897207	chr11:34253683-34621004	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv897208	chr11:34257064-34562247	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv897209	chr11:34309519-34548906	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv897210	chr11:34349427-34381075	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	n/a
9	nsv508622	chr11:34350559-34363184	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34336200-34358200	Weak transcription	Thymus	Thymus
2	chr11:34339000-34357400	Weak transcription	Fetal Thymus	thymus
3	chr11:34347000-34355600	Weak transcription	GM12878-XiMat	blood
4	chr11:34350800-34356400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr11:34351200-34355000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr11:34351800-34363800	Weak transcription	Left Ventricle	heart
7	chr11:34352400-34355000	Enhancers	Brain Hippocampus Middle	brain
8	chr11:34352600-34355000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr11:34352600-34363800	Weak transcription	Gastric	stomach
10	chr11:34352800-34358600	Enhancers	HepG2	liver
11	chr11:34353200-34360800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr11:34353200-34365400	Weak transcription	Pancreas	Pancrea
13	chr11:34353400-34362800	Weak transcription	Right Atrium	heart
14	chr11:34353800-34355800	Enhancers	Primary hematopoietic stem cells	blood
15	chr11:34353800-34355800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr11:34353800-34356000	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr11:34353800-34360800	Weak transcription	HSMMtube	muscle
18	chr11:34354000-34355600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr11:34354000-34358600	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr11:34354000-34360800	Weak transcription	HSMM	muscle
21	chr11:34354400-34355200	Weak transcription	Psoas Muscle	Psoas
22	chr11:34354400-34355400	Weak transcription	Aorta	Aorta
23	chr11:34354400-34360800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr11:34354400-34362200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr11:34354400-34363800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr11:34354400-34366600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr11:34354600-34355400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr11:34354600-34355400	Weak transcription	Primary B cells from cord blood	blood
29	chr11:34354600-34355600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr11:34354600-34356000	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr11:34354600-34357200	Weak transcription	Liver	Liver
32	chr11:34354600-34358600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr11:34354600-34358600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:34354600-34362600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr11:34354600-34363000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr11:34354600-34363800	Weak transcription	NH-A	brain
37	chr11:34354800-34355200	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr11:34354800-34355400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:34354800-34356600	Enhancers	A549	lung
40	chr11:34354800-34363000	Weak transcription	HUES6 Cell Line	embryonic stem cell

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