Variant report

Variant	rs6470368
Chromosome Location	chr8:126615293-126615294
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126442074..126444761-chr8:126614097..126617217,3	MCF-7	breast:
2	chr8:126441405..126444224-chr8:126614301..126619460,8	MCF-7	breast:
3	chr8:126520498..126522119-chr8:126613658..126615873,2	MCF-7	breast:
4	chr8:126614837..126616782-chr8:126623338..126626219,3	MCF-7	breast:
5	chr8:126605005..126607033-chr8:126613419..126615572,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1006998	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10956253	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17330350	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17330462	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55752928	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56112519	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56262214	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60426038	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62521562	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6981191	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7017624	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7017801	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs748100	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[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	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv6377	chr8:126579620-126639253	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv38	chr8:126593465-126639253	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv1015513	chr8:126602536-126618074	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126608400-126618400	Weak transcription	Colonic Mucosa	Colon
2	chr8:126608600-126619800	Weak transcription	Small Intestine	intestine
3	chr8:126608800-126617400	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:126609600-126619800	Weak transcription	Esophagus	oesophagus
5	chr8:126611800-126622600	Enhancers	Primary B cells from peripheral blood	blood
6	chr8:126612200-126625400	Enhancers	Primary B cells from cord blood	blood
7	chr8:126612800-126615600	Weak transcription	Fetal Thymus	thymus
8	chr8:126613200-126621800	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr8:126613400-126615400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr8:126613400-126619000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:126613600-126620600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr8:126613600-126620800	Enhancers	HMEC	breast
13	chr8:126613600-126621000	Enhancers	NHEK	skin
14	chr8:126613800-126618600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr8:126613800-126621000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:126614000-126615600	Enhancers	Hela-S3	cervix
17	chr8:126614000-126617000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:126614200-126615600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr8:126614200-126620000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:126614400-126615400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:126614400-126615400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr8:126614400-126615600	Enhancers	HUVEC	blood vessel
23	chr8:126614400-126615800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:126614400-126616400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr8:126614400-126617000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:126614600-126615600	Enhancers	A549	lung
27	chr8:126614600-126617000	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr8:126614600-126617200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr8:126614800-126615400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr8:126614800-126615400	Enhancers	NH-A	brain
31	chr8:126614800-126615400	Enhancers	Osteobl	bone
32	chr8:126614800-126615600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr8:126615000-126615400	Enhancers	NHDF-Ad	bronchial
34	chr8:126615000-126616800	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr8:126615000-126617800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr8:126615000-126618400	Weak transcription	Spleen	Spleen
37	chr8:126615000-126618600	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr8:126615200-126615400	Enhancers	Placenta	Placenta
39	chr8:126615200-126616000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:126615200-126616400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr8:126615200-126616600	Enhancers	GM12878-XiMat	blood
42	chr8:126615200-126618400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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