Variant report

Variant	rs4372019
Chromosome Location	chr8:126616752-126616753
allele	A/G
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	chr8:126602321..126604094-chr8:126616027..126618273,2	MCF-7	breast:
4	chr8:126615487..126618123-chr8:126620210..126621932,2	K562	blood:
5	chr8:126614837..126616782-chr8:126623338..126626219,3	MCF-7	breast:
6	chr8:126616447..126617973-chr8:126621582..126623418,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10095973	1.00[EUR][1000 genomes]
rs12548259	1.00[EUR][1000 genomes]
rs13364666	1.00[EUR][1000 genomes]
rs13364676	1.00[EUR][1000 genomes]
rs13364688	1.00[EUR][1000 genomes]
rs13364791	1.00[EUR][1000 genomes]
rs16900750	1.00[EUR][1000 genomes]
rs1979224	1.00[EUR][1000 genomes]
rs28589371	1.00[EUR][1000 genomes]
rs55734315	1.00[EUR][1000 genomes]
rs56699992	1.00[EUR][1000 genomes]
rs58950777	1.00[EUR][1000 genomes]
rs59505399	1.00[EUR][1000 genomes]
rs60394496	1.00[EUR][1000 genomes]
rs61501580	1.00[EUR][1000 genomes]
rs61571801	1.00[EUR][1000 genomes]
rs61589624	1.00[EUR][1000 genomes]
rs6990459	1.00[EUR][1000 genomes]
rs7010651	1.00[EUR][1000 genomes]
rs73336675	1.00[EUR][1000 genomes]
rs73338611	1.00[EUR][1000 genomes]
rs73338686	1.00[EUR][1000 genomes]
rs73338687	1.00[EUR][1000 genomes]
rs73346808	1.00[EUR][1000 genomes]
rs73346811	1.00[EUR][1000 genomes]
rs73346821	1.00[EUR][1000 genomes]
rs73346881	1.00[EUR][1000 genomes]
rs73346898	1.00[EUR][1000 genomes]
rs73349008	1.00[EUR][1000 genomes]
rs73349041	1.00[EUR][1000 genomes]
rs73349074	1.00[EUR][1000 genomes]
rs73706850	1.00[EUR][1000 genomes]
rs73706855	1.00[EUR][1000 genomes]
rs7834570	1.00[EUR][1000 genomes]
rs7835068	1.00[EUR][1000 genomes]
rs7835809	1.00[EUR][1000 genomes]
rs7845655	1.00[EUR][1000 genomes]
rs7845670	1.00[EUR][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:58 , 50 per page) page: 1 2

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	chr8:126613200-126621800	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr8:126613400-126619000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr8:126613600-126620600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:126613600-126620800	Enhancers	HMEC	breast
11	chr8:126613600-126621000	Enhancers	NHEK	skin
12	chr8:126613800-126618600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr8:126613800-126621000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:126614000-126617000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr8:126614200-126620000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:126614400-126617000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr8:126614600-126617000	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr8:126614600-126617200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr8:126615000-126616800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr8:126615000-126617800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr8:126615000-126618400	Weak transcription	Spleen	Spleen
22	chr8:126615000-126618600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr8:126615200-126618400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr8:126615400-126618400	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr8:126615400-126618600	Weak transcription	NH-A	brain
26	chr8:126615600-126617600	Enhancers	Brain Hippocampus Middle	brain
27	chr8:126615600-126617800	Weak transcription	Hela-S3	cervix
28	chr8:126615600-126618600	Weak transcription	A549	lung
29	chr8:126615600-126620400	Weak transcription	HUVEC	blood vessel
30	chr8:126616200-126617200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:126616200-126617200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:126616400-126616800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:126616400-126616800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:126616400-126616800	Enhancers	Brain Substantia Nigra	brain
35	chr8:126616400-126616800	Enhancers	Osteobl	bone
36	chr8:126616400-126617000	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr8:126616400-126617000	Enhancers	Brain Anterior Caudate	brain
38	chr8:126616400-126617400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr8:126616400-126617800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:126616400-126618200	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr8:126616400-126621600	Enhancers	Placenta	Placenta
42	chr8:126616400-126622800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr8:126616600-126616800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
44	chr8:126616600-126616800	Enhancers	Brain Cingulate Gyrus	brain
45	chr8:126616600-126617000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:126616600-126617000	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr8:126616600-126617000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr8:126616600-126617000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr8:126616600-126617200	Enhancers	Adipose Nuclei	Adipose
50	chr8:126616600-126617600	Enhancers	H9 Cell Line	embryonic stem cell

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