Variant report

Variant	rs56075967
Chromosome Location	chr2:86054799-86054800
allele	G/T
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:86054177..86056826-chr2:86305154..86307872,2	MCF-7	breast:
2	chr2:86054589..86055163-chr2:86305452..86306492,4	K562	blood:
3	chr2:86054287..86055622-chr2:86306024..86306629,3	MCF-7	breast:
4	chr2:86053537..86056634-chr2:86057076..86060323,3	K562	blood:
5	chr2:86041294..86041978-chr2:86054251..86055110,2	K562	blood:
6	chr2:86054352..86055082-chr2:86115931..86116704,2	MCF-7	breast:
7	chr2:86054004..86055894-chr2:86304722..86306644,12	MCF-7	breast:
8	chr2:86053140..86055095-chr2:86335113..86337888,2	K562	blood:
9	chr2:86054263..86055159-chr2:86306734..86307688,8	K562	blood:
10	chr2:86054291..86055159-chr2:86262823..86263723,2	MCF-7	breast:
11	chr2:86054378..86057135-chr2:86114999..86116544,2	MCF-7	breast:
12	chr2:86053903..86054829-chr2:86251609..86252561,2	MCF-7	breast:
13	chr2:86054186..86055161-chr2:86306747..86308111,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000132300	Chromatin interaction
ENSG00000115525	Chromatin interaction
ENSG00000232504	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10192507	0.87[EUR][1000 genomes]
rs11676487	0.83[AFR][1000 genomes]
rs13422943	0.92[EUR][1000 genomes]
rs13423116	0.92[EUR][1000 genomes]
rs55637101	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55746113	0.84[EUR][1000 genomes]
rs55763047	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55841727	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56232523	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56363459	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57536133	0.93[EUR][1000 genomes]
rs59444093	0.89[AFR][1000 genomes]
rs66990144	0.91[AFR][1000 genomes]
rs6724442	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6753123	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72842020	0.93[EUR][1000 genomes]
rs72842049	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72842057	0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72842058	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73943774	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7591383	0.92[EUR][1000 genomes]

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86039800-86074800	Weak transcription	Aorta	Aorta
2	chr2:86042200-86054800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr2:86049800-86054800	Weak transcription	Lung	lung
4	chr2:86051800-86054800	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr2:86054200-86054800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:86054200-86054800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr2:86054200-86055000	Enhancers	H9 Cell Line	embryonic stem cell
8	chr2:86054200-86055400	Enhancers	Fetal Muscle Leg	muscle
9	chr2:86054200-86055600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr2:86054200-86055800	Enhancers	Fetal Thymus	thymus
11	chr2:86054400-86054800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:86054400-86054800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr2:86054400-86054800	Active TSS	Brain Anterior Caudate	brain
14	chr2:86054400-86054800	Active TSS	Brain Cingulate Gyrus	brain
15	chr2:86054400-86054800	Active TSS	Brain Hippocampus Middle	brain
16	chr2:86054400-86054800	Enhancers	Ovary	ovary
17	chr2:86054400-86054800	Active TSS	A549	lung
18	chr2:86054400-86055000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr2:86054400-86055000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:86054400-86055000	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr2:86054400-86055000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:86054400-86055000	Enhancers	Psoas Muscle	Psoas
23	chr2:86054400-86055000	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr2:86054400-86055200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr2:86054400-86055200	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr2:86054400-86055200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:86054400-86055200	Enhancers	Liver	Liver
28	chr2:86054400-86055200	Enhancers	Fetal Lung	lung
29	chr2:86054400-86055200	Enhancers	Rectal Mucosa Donor 31	rectum
30	chr2:86054400-86055200	Enhancers	NHLF	lung
31	chr2:86054400-86055400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:86054400-86055400	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr2:86054400-86055600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:86054400-86055600	Enhancers	Pancreas	Pancrea
35	chr2:86054400-86055800	Enhancers	H1 Cell Line	embryonic stem cell
36	chr2:86054400-86055800	Enhancers	Spleen	Spleen
37	chr2:86054400-86057800	Enhancers	Dnd41	blood
38	chr2:86054600-86054800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:86054600-86054800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:86054600-86054800	Enhancers	Brain Angular Gyrus	brain
41	chr2:86054600-86054800	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr2:86054600-86054800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr2:86054600-86054800	Active TSS	Brain Substantia Nigra	brain
44	chr2:86054600-86054800	Enhancers	Rectal Smooth Muscle	rectum
45	chr2:86054600-86054800	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr2:86054600-86054800	Bivalent/Poised TSS	HepG2	liver
47	chr2:86054600-86054800	Enhancers	K562	blood
48	chr2:86054600-86054800	Active TSS	NHEK	skin
49	chr2:86054600-86055000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr2:86054600-86055000	Flanking Active TSS	Primary T cells fromperipheralblood	blood

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