Variant report

Variant	rs2570951
Chromosome Location	chr8:103887097-103887098
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:103886724..103888793-chr8:103913396..103915267,2	MCF-7	breast:
2	chr8:103817518..103820621-chr8:103884137..103887437,3	MCF-7	breast:
3	chr8:103884674..103887727-chr8:103889354..103892798,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253320	Chromatin interaction
ENSG00000253669	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1019976	0.89[ASN][1000 genomes]
rs1062048	0.89[ASN][1000 genomes]
rs17776569	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17776600	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1802539	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1806300	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1897787	0.89[ASN][1000 genomes]
rs1982111	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1991928	0.97[ASN][1000 genomes]
rs2247355	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2436849	0.86[ASN][1000 genomes]
rs2436851	0.87[ASN][1000 genomes]
rs2436856	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2436861	0.83[ASN][1000 genomes]
rs2513876	0.97[ASN][1000 genomes]
rs2513877	0.95[EUR][1000 genomes]
rs2513912	0.86[ASN][1000 genomes]
rs2513915	0.87[ASN][1000 genomes]
rs2513917	0.87[ASN][1000 genomes]
rs2513920	0.83[ASN][1000 genomes]
rs2513923	0.83[ASN][1000 genomes]
rs2513936	0.89[ASN][1000 genomes]
rs2570941	0.89[ASN][1000 genomes]
rs2570945	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2570952	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2679736	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2679737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2679740	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2679745	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2679747	0.89[ASN][1000 genomes]
rs2679750	0.89[ASN][1000 genomes]
rs2679753	0.97[ASN][1000 genomes]
rs2916559	0.86[ASN][1000 genomes]
rs3018943	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3018954	0.87[ASN][1000 genomes]
rs34157576	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35656046	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs581610	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs601088	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs688791	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs974758	0.89[ASN][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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
5	nsv891245	chr8:103838004-103907253	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103877000-103906800	Weak transcription	Gastric	stomach
2	chr8:103877200-103893200	Weak transcription	Pancreas	Pancrea
3	chr8:103877800-103902000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:103877800-103906400	Weak transcription	HSMMtube	muscle
5	chr8:103878000-103887200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr8:103878000-103906400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
7	chr8:103878000-103908800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:103878200-103892800	Weak transcription	Fetal Muscle Leg	muscle
9	chr8:103878200-103897400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr8:103878200-103906600	Weak transcription	Ovary	ovary
11	chr8:103878400-103897200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:103878600-103892800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr8:103878600-103897600	Weak transcription	Fetal Brain Female	brain
14	chr8:103878800-103893400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr8:103878800-103895600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:103878800-103899800	Weak transcription	Esophagus	oesophagus
17	chr8:103879000-103893000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:103879200-103922000	Weak transcription	Fetal Intestine Small	intestine
19	chr8:103881000-103899000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr8:103882800-103906600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:103883200-103893200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr8:103884400-103894000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:103884400-103900600	Weak transcription	Aorta	Aorta
24	chr8:103884600-103897400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:103885600-103888000	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr8:103885800-103889600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:103886000-103889000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:103886600-103892800	Weak transcription	Placenta	Placenta
29	chr8:103886800-103898800	Weak transcription	Fetal Thymus	thymus

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