Variant report

Variant	rs910527
Chromosome Location	chr20:25027078-25027079
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	chr20:25018135..25021325-chr20:25025439..25028774,3	MCF-7	breast:
2	chr20:25026036..25030944-chr20:25033529..25038477,7	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4815364	0.91[CHD][hapmap];0.87[JPT][hapmap]
rs6132792	0.85[CHB][hapmap];0.88[CHD][hapmap];0.84[GIH][hapmap];0.81[JPT][hapmap];0.87[MEX][hapmap];0.83[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062140	chr20:24807962-25304054	Strong transcription Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv544219	chr20:24807962-25304054	Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1056345	chr20:24819570-25168159	Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv1055341	chr20:24848416-25302271	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
5	nsv912826	chr20:24987787-25071454	Flanking Active TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs910527	VSX1	cis	cerebellum	SCAN
rs910527	ACSS1	cis	cerebellum	SCAN

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25016600-25027600	Enhancers	Right Atrium	heart
2	chr20:25016600-25034800	Weak transcription	A549	lung
3	chr20:25017800-25029000	Genic enhancers	Placenta	Placenta
4	chr20:25017800-25034200	Weak transcription	Fetal Kidney	kidney
5	chr20:25020600-25037400	Enhancers	Psoas Muscle	Psoas
6	chr20:25021200-25027200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
7	chr20:25021200-25032600	Weak transcription	NHDF-Ad	bronchial
8	chr20:25022200-25033000	Weak transcription	Brain Germinal Matrix	brain
9	chr20:25023800-25027200	Weak transcription	Stomach Mucosa	stomach
10	chr20:25024000-25032400	Weak transcription	Small Intestine	intestine
11	chr20:25024200-25031200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr20:25024400-25032400	Strong transcription	Fetal Intestine Small	intestine
13	chr20:25024400-25032600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr20:25024400-25032600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr20:25024400-25033000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr20:25024600-25028000	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr20:25024600-25028600	Strong transcription	Colon Smooth Muscle	Colon
18	chr20:25024600-25029000	Genic enhancers	Pancreas	Pancrea
19	chr20:25024600-25029200	Genic enhancers	Fetal Muscle Trunk	muscle
20	chr20:25024600-25031800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr20:25024600-25033200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr20:25024800-25028800	Strong transcription	Fetal Stomach	stomach
23	chr20:25025000-25027400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr20:25025200-25029200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr20:25025400-25028400	Strong transcription	Fetal Lung	lung
26	chr20:25025400-25028800	Genic enhancers	Lung	lung
27	chr20:25025400-25028800	Genic enhancers	Stomach Smooth Muscle	stomach
28	chr20:25025400-25029000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr20:25025400-25029600	Strong transcription	Dnd41	blood
30	chr20:25025400-25030600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr20:25025600-25027800	Bivalent Enhancer	HepG2	liver
32	chr20:25025600-25029400	Strong transcription	Primary T cells from cord blood	blood
33	chr20:25025800-25027400	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr20:25025800-25029000	Strong transcription	Spleen	Spleen
35	chr20:25026000-25028400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr20:25026000-25028600	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr20:25026000-25028800	Strong transcription	Rectal Smooth Muscle	rectum
38	chr20:25026000-25029000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
39	chr20:25026000-25029200	Genic enhancers	Brain Hippocampus Middle	brain
40	chr20:25026000-25029400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr20:25026000-25030200	Enhancers	Liver	Liver
42	chr20:25026200-25027600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr20:25026200-25028400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr20:25026200-25029000	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr20:25026200-25029400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr20:25026200-25029600	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr20:25026400-25027400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr20:25026400-25027400	Strong transcription	Fetal Muscle Leg	muscle
49	chr20:25026400-25027600	Weak transcription	Brain Angular Gyrus	brain
50	chr20:25026400-25027600	Weak transcription	Brain Inferior Temporal Lobe	brain

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