Variant report

Variant	rs4392331
Chromosome Location	chr20:25026293-25026294
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:25018135..25021325-chr20:25025439..25028774,3	MCF-7	breast:
2	chr20:25024429..25027041-chr20:25035643..25038257,2	K562	blood:
3	chr20:25026036..25030944-chr20:25033529..25038477,7	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2150647	1.00[AMR][1000 genomes]
rs2150648	1.00[AMR][1000 genomes]
rs61529650	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73346970	1.00[AMR][1000 genomes]
rs73346980	1.00[AMR][1000 genomes]
rs73348704	1.00[AMR][1000 genomes]
rs73348706	1.00[AMR][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:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:25012000-25026400	Enhancers	Right Ventricle	heart
2	chr20:25012800-25026400	Enhancers	Brain Angular Gyrus	brain
3	chr20:25014000-25026400	Enhancers	Brain Cingulate Gyrus	brain
4	chr20:25014200-25026400	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr20:25016600-25027600	Enhancers	Right Atrium	heart
6	chr20:25016600-25034800	Weak transcription	A549	lung
7	chr20:25017000-25026600	Enhancers	Brain Anterior Caudate	brain
8	chr20:25017400-25026400	Enhancers	Brain Substantia Nigra	brain
9	chr20:25017600-25026400	Enhancers	Left Ventricle	heart
10	chr20:25017800-25029000	Genic enhancers	Placenta	Placenta
11	chr20:25017800-25034200	Weak transcription	Fetal Kidney	kidney
12	chr20:25020200-25026400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr20:25020600-25027000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr20:25020600-25037400	Enhancers	Psoas Muscle	Psoas
15	chr20:25021200-25027200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr20:25021200-25032600	Weak transcription	NHDF-Ad	bronchial
17	chr20:25021400-25026400	Enhancers	Adipose Nuclei	Adipose
18	chr20:25022200-25027000	Weak transcription	Ovary	ovary
19	chr20:25022200-25033000	Weak transcription	Brain Germinal Matrix	brain
20	chr20:25022600-25026400	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr20:25023000-25026400	Enhancers	Aorta	Aorta
22	chr20:25023600-25026400	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr20:25023600-25026600	Enhancers	Primary B cells from cord blood	blood
24	chr20:25023800-25026800	Enhancers	Primary B cells from peripheral blood	blood
25	chr20:25023800-25027000	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr20:25023800-25027200	Weak transcription	Stomach Mucosa	stomach
27	chr20:25024000-25032400	Weak transcription	Small Intestine	intestine
28	chr20:25024200-25026600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr20:25024200-25026800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr20:25024200-25026800	Weak transcription	Thymus	Thymus
31	chr20:25024200-25031200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr20:25024400-25026800	Weak transcription	Colonic Mucosa	Colon
33	chr20:25024400-25027000	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr20:25024400-25032400	Strong transcription	Fetal Intestine Small	intestine
35	chr20:25024400-25032600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr20:25024400-25032600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
37	chr20:25024400-25033000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr20:25024600-25026800	Weak transcription	Fetal Thymus	thymus
39	chr20:25024600-25028000	Weak transcription	Duodenum Smooth Muscle	Duodenum
40	chr20:25024600-25028600	Strong transcription	Colon Smooth Muscle	Colon
41	chr20:25024600-25029000	Genic enhancers	Pancreas	Pancrea
42	chr20:25024600-25029200	Genic enhancers	Fetal Muscle Trunk	muscle
43	chr20:25024600-25031800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr20:25024600-25033200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr20:25024800-25026800	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr20:25024800-25027000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr20:25024800-25028800	Strong transcription	Fetal Stomach	stomach
48	chr20:25025000-25026400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr20:25025000-25026800	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr20:25025000-25027400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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