Variant report

Variant	rs7260830
Chromosome Location	chr20:52505180-52505181
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	chr17:59939792..59942542-chr20:52504294..52506030,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136492	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs56378040	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73912533	1.00[AMR][1000 genomes]
rs73914416	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
5	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
6	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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:52494400-52507400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:52496000-52507000	Weak transcription	Small Intestine	intestine
3	chr20:52500000-52507000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr20:52500400-52507000	Weak transcription	Osteobl	bone
5	chr20:52500600-52515600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr20:52500800-52507000	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr20:52501600-52507000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr20:52501600-52507000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr20:52501800-52506800	Weak transcription	NHLF	lung
10	chr20:52501800-52507000	Weak transcription	HUVEC	blood vessel
11	chr20:52501800-52507200	Weak transcription	NH-A	brain
12	chr20:52501800-52508400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr20:52501800-52509200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr20:52501800-52509400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr20:52501800-52509400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr20:52501800-52509400	Weak transcription	Thymus	Thymus
17	chr20:52501800-52509600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr20:52502000-52509400	Weak transcription	Primary T cells from cord blood	blood
19	chr20:52502200-52507400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr20:52502200-52509400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr20:52502200-52509600	Weak transcription	NHEK	skin
22	chr20:52502600-52509400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr20:52502800-52505600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr20:52502800-52509400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr20:52503000-52507000	Weak transcription	Fetal Intestine Large	intestine
26	chr20:52503000-52509400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr20:52503600-52507200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr20:52503800-52509400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr20:52504000-52505800	Enhancers	Placenta	Placenta
30	chr20:52504400-52507200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr20:52504600-52505200	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr20:52504600-52505400	Enhancers	Primary T cells fromperipheralblood	blood
33	chr20:52504600-52505400	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr20:52504600-52505800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr20:52504600-52505800	Enhancers	Fetal Thymus	thymus
36	chr20:52504800-52505200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr20:52504800-52507000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr20:52505000-52505400	Enhancers	Dnd41	blood
39	chr20:52505000-52505600	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr20:52505000-52505800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr20:52505000-52505800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr20:52505000-52505800	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr20:52505000-52506200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr20:52505000-52506400	Enhancers	HepG2	liver

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