Variant report

Variant	rs71483808
Chromosome Location	chr10:26988567-26988568
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:26954305..26956450-chr10:26987430..26988975,2	K562	blood:
2	chr10:26986198..26989615-chr10:27022506..27024765,3	MCF-7	breast:
3	chr10:26986774..26988762-chr10:27020723..27023686,2	K562	blood:

Variant related genes	Relation type
ENSG00000148459	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10764636	0.80[EUR][1000 genomes]
rs11015223	0.94[ASN][1000 genomes]
rs11015232	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12254548	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12415035	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1809359	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1960383	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35459290	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3808913	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs68159164	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7069431	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7100327	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7896301	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7904343	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894975	chr10:26343356-27014467	Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv3415799	chr10:26929831-27233591	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	esv1798973	chr10:26968171-27001814	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv550233	chr10:26968171-27011323	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:26985400-26988600	Active TSS	GM12878-XiMat	blood
2	chr10:26987000-26989000	Flanking Active TSS	Duodenum Mucosa	Duodenum
3	chr10:26987600-26988800	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr10:26987600-26989000	Weak transcription	Small Intestine	intestine
5	chr10:26987600-26989800	Enhancers	Lung	lung
6	chr10:26987600-26990200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr10:26987600-26990400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:26987600-26990400	Weak transcription	Primary T cells from cord blood	blood
9	chr10:26987600-26990800	Weak transcription	Primary B cells from cord blood	blood
10	chr10:26987600-26990800	Enhancers	Sigmoid Colon	Sigmoid Colon
11	chr10:26987600-26991000	Enhancers	Liver	Liver
12	chr10:26987600-26994200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr10:26987600-26994400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr10:26987600-26994800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr10:26987600-26994800	Weak transcription	Brain Substantia Nigra	brain
16	chr10:26987600-26994800	Weak transcription	Esophagus	oesophagus
17	chr10:26987600-26994800	Weak transcription	Ovary	ovary
18	chr10:26987600-26994800	Weak transcription	HSMMtube	muscle
19	chr10:26987600-26995000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr10:26987600-26995000	Weak transcription	Gastric	stomach
21	chr10:26987600-26995000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr10:26987600-26996200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr10:26987600-26996200	Weak transcription	Pancreas	Pancrea
24	chr10:26987600-26996800	Weak transcription	Aorta	Aorta
25	chr10:26987600-27010400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr10:26987600-27024400	Weak transcription	Fetal Kidney	kidney
27	chr10:26987800-26988600	Enhancers	Fetal Intestine Small	intestine
28	chr10:26987800-26988800	Enhancers	Brain Anterior Caudate	brain
29	chr10:26987800-26989000	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr10:26987800-26990400	Weak transcription	Brain Germinal Matrix	brain
31	chr10:26987800-26994800	Weak transcription	Brain Hippocampus Middle	brain
32	chr10:26987800-26994800	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr10:26987800-26995400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr10:26987800-27010800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr10:26987800-27020400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr10:26987800-27031200	Weak transcription	NHDF-Ad	bronchial
37	chr10:26988000-26988800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr10:26988000-26989000	Transcr. at gene 5' and 3'	Dnd41	blood
39	chr10:26988000-26990200	Weak transcription	Right Ventricle	heart
40	chr10:26988000-26991200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr10:26988000-26991800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr10:26988000-26993800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr10:26988000-26994400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr10:26988000-26994600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr10:26988000-26994600	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr10:26988000-26994600	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr10:26988000-26994600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr10:26988000-26994600	Weak transcription	Adipose Nuclei	Adipose
49	chr10:26988000-26994800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr10:26988000-26994800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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