Variant report

Variant	rs34340293
Chromosome Location	chr20:52501205-52501206
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:57922232..57924653-chr20:52499951..52502601,2	MCF-7	breast:
2	chr20:52488667..52491302-chr20:52499908..52502050,2	K562	blood:
3	chr20:52499920..52501724-chr21:43931896..43934838,2	MCF-7	breast:
4	chr20:52500665..52501486-chr21:39381096..39382052,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160190	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6022803	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34060	chr20:52251863-52702186	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	296 gene(s)	inside rSNPs	diseases
2	nsv834008	chr20:52368660-52533410	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	185 gene(s)	inside rSNPs	diseases
3	nsv834009	chr20:52386050-52590795	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	182 gene(s)	inside rSNPs	diseases
4	nsv1060372	chr20:52409008-52502100	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	122 gene(s)	inside rSNPs	diseases
5	esv1831516	chr20:52437245-52514913	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases
6	nsv586222	chr20:52473679-52506380	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	74 gene(s)	inside rSNPs	diseases
7	nsv586224	chr20:52474850-53279490	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	338 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52490200-52502400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr20:52494400-52507400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr20:52496000-52507000	Weak transcription	Small Intestine	intestine
4	chr20:52496800-52503600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr20:52499600-52501800	Enhancers	NHDF-Ad	bronchial
6	chr20:52499800-52501600	Enhancers	NHLF	lung
7	chr20:52499800-52502000	Enhancers	HepG2	liver
8	chr20:52500000-52501600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr20:52500000-52501800	Enhancers	NH-A	brain
10	chr20:52500000-52503800	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr20:52500000-52507000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr20:52500200-52502800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr20:52500400-52501600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr20:52500400-52507000	Weak transcription	Osteobl	bone
15	chr20:52500600-52502200	Enhancers	Primary T cells fromperipheralblood	blood
16	chr20:52500600-52515600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr20:52500800-52501800	Enhancers	H9 Cell Line	embryonic stem cell
18	chr20:52500800-52501800	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr20:52500800-52501800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr20:52500800-52502000	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr20:52500800-52503000	Enhancers	H1 Cell Line	embryonic stem cell
22	chr20:52500800-52503000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr20:52500800-52507000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr20:52501000-52501600	Enhancers	A549	lung
25	chr20:52501000-52501800	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr20:52501000-52501800	Enhancers	Fetal Thymus	thymus
27	chr20:52501000-52501800	Enhancers	Dnd41	blood
28	chr20:52501000-52501800	Enhancers	HUVEC	blood vessel
29	chr20:52501000-52502000	Enhancers	Primary T cells from cord blood	blood
30	chr20:52501000-52502200	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr20:52501000-52502600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr20:52501000-52502800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr20:52501000-52502800	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr20:52501200-52501400	Enhancers	Hela-S3	cervix
35	chr20:52501200-52501600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr20:52501200-52501800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr20:52501200-52501800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr20:52501200-52501800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr20:52501200-52501800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr20:52501200-52502000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr20:52501200-52502000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr20:52501200-52502000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr20:52501200-52502000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr20:52501200-52502200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr20:52501200-52502200	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr20:52501200-52502400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr20:52501200-52502600	Enhancers	Placenta	Placenta

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