Variant report

Variant	rs57629483
Chromosome Location	chr2:20271461-20271462
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:11671059..11672742-chr2:20270351..20272377,2	MCF-7	breast:
2	chr2:20155493..20156202-chr2:20271155..20271939,2	MCF-7	breast:
3	chr2:20263567..20266524-chr2:20270563..20273787,4	K562	blood:
4	chr2:20188473..20190343-chr2:20270622..20272132,2	MCF-7	breast:
5	chr2:20250882..20251588-chr2:20271269..20271930,3	MCF-7	breast:
6	chr2:20271098..20272306-chr2:20313307..20314343,4	MCF-7	breast:
7	chr2:20214554..20219540-chr2:20268505..20271599,4	MCF-7	breast:
8	chr2:20269147..20275842-chr2:20291951..20298996,12	MCF-7	breast:
9	chr2:20271401..20271935-chr2:20294339..20294859,2	MCF-7	breast:
10	chr2:20225238..20227093-chr2:20270097..20272850,2	MCF-7	breast:
11	chr2:20211201..20213759-chr2:20270532..20272614,4	MCF-7	breast:
12	chr2:20155184..20157603-chr2:20271244..20273099,3	MCF-7	breast:
13	chr2:20249788..20257046-chr2:20268868..20274735,23	MCF-7	breast:
14	chr2:20271313..20272085-chr2:20313545..20314285,3	MCF-7	breast:
15	chr17:57916621..57918390-chr2:20269936..20271465,2	MCF-7	breast:
16	chr2:20262539..20265067-chr2:20270708..20273020,3	K562	blood:
17	chr2:20210963..20214277-chr2:20270799..20274323,4	MCF-7	breast:
18	chr2:20269058..20271837-chr2:20423527..20425315,3	MCF-7	breast:
19	chr2:20270622..20273512-chr2:20307983..20310075,2	MCF-7	breast:
20	chr2:20270221..20272820-chr2:20277699..20279389,2	K562	blood:
21	chr2:20269865..20272049-chr2:20300977..20303518,3	MCF-7	breast:
22	chr2:20155581..20156178-chr2:20270905..20271899,2	MCF-7	breast:
23	chr2:20271098..20271980-chr2:20313360..20314366,4	MCF-7	breast:
24	chr2:20155493..20156320-chr2:20271133..20271693,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000227210	Chromatin interaction
ENSG00000118965	Chromatin interaction
ENSG00000068697	Chromatin interaction
ENSG00000132031	Chromatin interaction
ENSG00000223734	Chromatin interaction
ENSG00000115884	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10178084	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10181363	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10192770	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10193138	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1028052	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1028053	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13400037	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13400145	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13413192	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1466418	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1513833	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs59501686	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73223845	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73223848	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs967502	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:20266600-20272400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr2:20266600-20273000	Weak transcription	Psoas Muscle	Psoas
3	chr2:20267200-20275000	Enhancers	Placenta	Placenta
4	chr2:20268800-20271600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:20269800-20272600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:20270000-20273200	Enhancers	HMEC	breast
7	chr2:20270000-20273600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr2:20270000-20275200	Enhancers	Fetal Muscle Leg	muscle
9	chr2:20270200-20271800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr2:20270200-20271800	Enhancers	Fetal Muscle Trunk	muscle
11	chr2:20270400-20271800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:20270600-20274000	Enhancers	Fetal Heart	heart
13	chr2:20270800-20272200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:20270800-20274000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr2:20271000-20271600	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr2:20271000-20271600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:20271000-20271600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:20271000-20271600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:20271000-20271600	Flanking Active TSS	NH-A	brain
20	chr2:20271000-20271800	Enhancers	Muscle Satellite Cultured Cells	--
21	chr2:20271000-20271800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:20271000-20271800	Enhancers	Fetal Lung	lung
23	chr2:20271000-20272000	Flanking Active TSS	NHEK	skin
24	chr2:20271000-20272200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr2:20271000-20272400	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr2:20271000-20272400	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr2:20271000-20272400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:20271000-20272400	Flanking Active TSS	A549	lung
29	chr2:20271000-20272400	Flanking Active TSS	Hela-S3	cervix
30	chr2:20271000-20272400	Flanking Active TSS	HepG2	liver
31	chr2:20271000-20272400	Flanking Active TSS	NHDF-Ad	bronchial
32	chr2:20271000-20273000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr2:20271000-20273000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr2:20271000-20275000	Enhancers	Pancreas	Pancrea
35	chr2:20271200-20271600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr2:20271200-20271600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr2:20271200-20271600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:20271200-20271600	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr2:20271200-20271600	Enhancers	Gastric	stomach
40	chr2:20271200-20271600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr2:20271200-20271800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr2:20271200-20271800	Enhancers	Brain Angular Gyrus	brain
43	chr2:20271200-20271800	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr2:20271200-20272000	Enhancers	H1 Cell Line	embryonic stem cell
45	chr2:20271200-20272000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr2:20271200-20272000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr2:20271200-20272000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr2:20271200-20272000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr2:20271200-20272000	Enhancers	Brain Cingulate Gyrus	brain
50	chr2:20271200-20272000	Enhancers	Esophagus	oesophagus

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