Variant report

Variant	rs8123923
Chromosome Location	chr20:25034677-25034678
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:25032527..25035027-chr20:25040068..25042955,2	K562	blood:
2	chr20:25033407..25037735-chr20:25037828..25040328,4	MCF-7	breast:
3	chr20:25027984..25032783-chr20:25034265..25037344,6	MCF-7	breast:
4	chr20:25026036..25030944-chr20:25033529..25038477,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154930	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11907817	1.00[AFR][1000 genomes]
rs11908357	1.00[AFR][1000 genomes]
rs7265897	1.00[AFR][1000 genomes]
rs7265967	1.00[AFR][1000 genomes]
rs7266133	0.98[AFR][1000 genomes]
rs7270177	1.00[AFR][1000 genomes]
rs73348706	0.97[AFR][1000 genomes]
rs73348715	1.00[AFR][1000 genomes]
rs73348717	1.00[AFR][1000 genomes]
rs73348722	1.00[AFR][1000 genomes]
rs8114568	1.00[AFR][1000 genomes]
rs8121327	1.00[AFR][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

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25016600-25034800	Weak transcription	A549	lung
2	chr20:25020600-25037400	Enhancers	Psoas Muscle	Psoas
3	chr20:25027800-25037000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr20:25028400-25034800	Enhancers	Left Ventricle	heart
5	chr20:25028600-25037200	Genic enhancers	Primary T cells fromperipheralblood	blood
6	chr20:25028800-25036600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr20:25028800-25037200	Enhancers	Aorta	Aorta
8	chr20:25029000-25036800	Enhancers	Right Ventricle	heart
9	chr20:25029200-25037200	Enhancers	Fetal Muscle Trunk	muscle
10	chr20:25031600-25035000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr20:25031800-25035800	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr20:25031800-25037000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr20:25032000-25037600	Enhancers	Spleen	Spleen
14	chr20:25032200-25034800	Enhancers	Gastric	stomach
15	chr20:25032200-25035600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr20:25032200-25036000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr20:25032200-25036000	Genic enhancers	Fetal Intestine Large	intestine
18	chr20:25032200-25036600	Enhancers	Ovary	ovary
19	chr20:25032200-25037400	Enhancers	Stomach Mucosa	stomach
20	chr20:25032400-25034800	Enhancers	Placenta	Placenta
21	chr20:25032400-25035200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr20:25032400-25035200	Enhancers	Fetal Muscle Leg	muscle
23	chr20:25032400-25035800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr20:25032400-25036400	Genic enhancers	Fetal Intestine Small	intestine
25	chr20:25032400-25037000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr20:25032400-25037000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr20:25032400-25037000	Genic enhancers	Fetal Stomach	stomach
28	chr20:25032400-25037200	Enhancers	Small Intestine	intestine
29	chr20:25032400-25037400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr20:25032600-25035000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr20:25032600-25037200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
32	chr20:25032600-25037200	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr20:25032800-25036000	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr20:25033000-25035400	Enhancers	Brain Germinal Matrix	brain
35	chr20:25033000-25035400	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr20:25033000-25036800	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr20:25033000-25037200	Enhancers	Fetal Thymus	thymus
38	chr20:25033000-25037400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr20:25033200-25035600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr20:25033200-25035800	Enhancers	HSMMtube	muscle
41	chr20:25033200-25036800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr20:25033200-25036800	Enhancers	Pancreas	Pancrea
43	chr20:25033400-25037200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
44	chr20:25033600-25034800	Weak transcription	Esophagus	oesophagus
45	chr20:25033600-25035400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
46	chr20:25033600-25037400	Enhancers	NHDF-Ad	bronchial
47	chr20:25033800-25034800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
48	chr20:25033800-25035000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr20:25033800-25035000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr20:25033800-25035000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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