Variant report

Variant	rs7004908
Chromosome Location	chr8:124433855-124433856
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124428888..124431175-chr8:124432869..124435313,2	MCF-7	breast:
2	chr8:124427799..124430548-chr8:124432499..124434365,4	K562	blood:
3	chr8:124428532..124430498-chr8:124430799..124434472,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156795	Chromatin interaction
ENSG00000156802	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10087527	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10089561	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10110826	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10216826	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10956129	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12234925	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1817527	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35680076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4541891	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871365	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871375	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871376	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871379	0.87[EUR][1000 genomes]
rs4871381	0.81[EUR][1000 genomes]
rs6470148	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470151	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6989927	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7005105	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7822727	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7838923	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7841922	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9297669	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831449	chr8:124276685-124471740	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv3415547	chr8:124420820-124444289	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124429800-124440800	Weak transcription	Aorta	Aorta
2	chr8:124430000-124440400	Weak transcription	Fetal Stomach	stomach
3	chr8:124430000-124440600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr8:124430000-124440600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr8:124430000-124440800	Weak transcription	Primary monocytes fromperipheralblood	blood
6	chr8:124430000-124440800	Weak transcription	Left Ventricle	heart
7	chr8:124430000-124441000	Weak transcription	Lung	lung
8	chr8:124430000-124441400	Weak transcription	Primary B cells from cord blood	blood
9	chr8:124430000-124441600	Weak transcription	Thymus	Thymus
10	chr8:124430000-124443600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr8:124430000-124443800	Weak transcription	Esophagus	oesophagus
12	chr8:124430000-124443800	Weak transcription	Right Ventricle	heart
13	chr8:124430000-124449200	Weak transcription	Small Intestine	intestine
14	chr8:124430000-124450200	Weak transcription	Brain Germinal Matrix	brain
15	chr8:124430200-124437000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr8:124430200-124440600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr8:124430200-124440600	Weak transcription	Adipose Nuclei	Adipose
18	chr8:124430200-124440800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr8:124430200-124441000	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr8:124430200-124441000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr8:124430200-124441000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr8:124430200-124441000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:124430200-124441000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr8:124430200-124441200	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr8:124430200-124441200	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr8:124430200-124441400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:124430200-124441400	Weak transcription	Fetal Muscle Leg	muscle
28	chr8:124430200-124441400	Weak transcription	Placenta	Placenta
29	chr8:124430200-124441400	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr8:124430200-124441400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr8:124430200-124441600	Weak transcription	Fetal Brain Female	brain
32	chr8:124430200-124442200	Weak transcription	Rectal Smooth Muscle	rectum
33	chr8:124430200-124442200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr8:124430200-124442600	Weak transcription	Gastric	stomach
35	chr8:124430200-124443600	Weak transcription	Ovary	ovary
36	chr8:124430200-124443600	Weak transcription	NH-A	brain
37	chr8:124430200-124443800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr8:124430200-124443800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:124430200-124443800	Weak transcription	Primary T cells from cord blood	blood
40	chr8:124430200-124443800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:124430200-124443800	Weak transcription	Pancreas	Pancrea
42	chr8:124430200-124443800	Weak transcription	Spleen	Spleen
43	chr8:124430200-124443800	Weak transcription	HSMM	muscle
44	chr8:124430200-124447000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr8:124430200-124448600	Weak transcription	NHEK	skin
46	chr8:124430200-124448600	Weak transcription	NHLF	lung
47	chr8:124430200-124448800	Weak transcription	NHDF-Ad	bronchial
48	chr8:124430200-124449000	Weak transcription	Osteobl	bone
49	chr8:124430200-124449200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr8:124430200-124449200	Weak transcription	HUVEC	blood vessel

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