Variant report

Variant	rs2570949
Chromosome Location	chr8:103889048-103889049
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103883028..103885294-chr8:103888959..103891854,2	MCF-7	breast:
2	chr8:103880964..103882727-chr8:103887740..103890227,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ATP6V1C1-8	chr8:103888226-103889957	ucscGeneNc_uc003ykw_1

Variant related genes	Relation type
ENSG00000155096	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10104704	0.83[ASN][1000 genomes]
rs10104995	0.97[EUR][1000 genomes]
rs1055376	0.87[AFR][1000 genomes]
rs10955294	0.97[EUR][1000 genomes]
rs1138	0.84[ASN][1000 genomes]
rs11776547	0.97[EUR][1000 genomes]
rs11993347	0.96[EUR][1000 genomes]
rs1714399	0.93[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1806299	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2458280	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2513875	0.93[EUR][1000 genomes]
rs2513877	0.86[ASN][1000 genomes]
rs2570944	0.85[ASN][1000 genomes]
rs2570946	0.90[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2570948	0.91[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2679741	0.91[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs2679742	0.88[AFR][1000 genomes]
rs2679744	0.84[ASN][1000 genomes]
rs2679758	0.84[ASN][1000 genomes]
rs2679759	0.96[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs28594922	0.82[AMR][1000 genomes]
rs2916560	0.84[ASN][1000 genomes]
rs491770	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs492770	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs551241	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs601588	0.93[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs606335	0.82[ASN][1000 genomes]
rs642004	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs647313	0.83[ASN][1000 genomes]
rs667927	0.80[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs892486	0.84[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:30 , 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	chr8:103878000-103906400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr8:103878000-103908800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr8:103878200-103892800	Weak transcription	Fetal Muscle Leg	muscle
8	chr8:103878200-103897400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr8:103878200-103906600	Weak transcription	Ovary	ovary
10	chr8:103878400-103897200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr8:103878600-103892800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr8:103878600-103897600	Weak transcription	Fetal Brain Female	brain
13	chr8:103878800-103893400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr8:103878800-103895600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr8:103878800-103899800	Weak transcription	Esophagus	oesophagus
16	chr8:103879000-103893000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:103879200-103922000	Weak transcription	Fetal Intestine Small	intestine
18	chr8:103881000-103899000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr8:103882800-103906600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:103883200-103893200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:103884400-103894000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:103884400-103900600	Weak transcription	Aorta	Aorta
23	chr8:103884600-103897400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:103885800-103889600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr8:103886600-103892800	Weak transcription	Placenta	Placenta
26	chr8:103886800-103898800	Weak transcription	Fetal Thymus	thymus
27	chr8:103887600-103889600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr8:103887800-103892800	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr8:103887800-103893200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr8:103889000-103890200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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