Variant report

Variant	rs7008015
Chromosome Location	chr8:126480327-126480328
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126479603..126481844-chr8:126494659..126497363,2	K562	blood:
2	chr8:126479289..126481809-chr8:126483424..126485504,2	K562	blood:
3	chr8:126479289..126481809-chr8:126483424..126485504,3	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13259326	1.00[MEX][hapmap]
rs16900614	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900615	0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs55882275	1.00[ASN][1000 genomes]
rs55987622	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57863956	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61002144	1.00[ASN][1000 genomes]
rs61660593	1.00[ASN][1000 genomes]
rs6982940	1.00[ASN][1000 genomes]
rs6987604	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987644	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003006	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	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	esv2141732	chr8:126480323-126480745	Enhancers Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126476600-126483000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:126477400-126485000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr8:126479200-126482600	Weak transcription	Fetal Brain Female	brain
4	chr8:126479400-126480400	Weak transcription	Stomach Mucosa	stomach
5	chr8:126479400-126480800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr8:126479400-126480800	Weak transcription	Skeletal Muscle Male	skeletal muscle
7	chr8:126479400-126481000	Enhancers	Hela-S3	cervix
8	chr8:126479400-126481200	Weak transcription	Adipose Nuclei	Adipose
9	chr8:126479400-126481200	Weak transcription	Fetal Intestine Large	intestine
10	chr8:126479400-126481200	Weak transcription	Lung	lung
11	chr8:126479400-126481200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr8:126479400-126481400	Weak transcription	Left Ventricle	heart
13	chr8:126479400-126481400	Weak transcription	Psoas Muscle	Psoas
14	chr8:126479400-126481400	Weak transcription	Right Atrium	heart
15	chr8:126479400-126481800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr8:126479400-126482400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr8:126479400-126482400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:126479400-126482400	Weak transcription	Fetal Stomach	stomach
19	chr8:126479400-126482400	Weak transcription	Ovary	ovary
20	chr8:126479400-126482600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr8:126479400-126482600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr8:126479400-126482600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:126479400-126482600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr8:126479400-126483000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:126479400-126483400	Enhancers	Fetal Kidney	kidney
26	chr8:126479400-126487400	Weak transcription	Liver	Liver
27	chr8:126479400-126489200	Weak transcription	Pancreas	Pancrea
28	chr8:126479600-126480600	Weak transcription	Fetal Intestine Small	intestine
29	chr8:126479600-126480600	Weak transcription	Fetal Muscle Leg	muscle
30	chr8:126479600-126480600	Weak transcription	HepG2	liver
31	chr8:126479600-126480800	Weak transcription	Placenta	Placenta
32	chr8:126479600-126481000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr8:126479600-126481200	Weak transcription	Primary hematopoietic stem cells	blood
34	chr8:126479600-126482400	Weak transcription	Fetal Heart	heart
35	chr8:126479600-126482600	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr8:126479600-126482600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr8:126479600-126482600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr8:126479600-126482600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr8:126479600-126482600	Weak transcription	Right Ventricle	heart
40	chr8:126479600-126482600	Weak transcription	A549	lung
41	chr8:126479600-126482600	Weak transcription	NH-A	brain
42	chr8:126479600-126482600	Weak transcription	Osteobl	bone
43	chr8:126479600-126482800	Weak transcription	NHLF	lung
44	chr8:126479600-126483200	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr8:126479800-126481200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr8:126479800-126481200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr8:126479800-126481200	Weak transcription	K562	blood
48	chr8:126479800-126481400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr8:126479800-126481400	Weak transcription	Fetal Lung	lung
50	chr8:126479800-126482400	Weak transcription	HUVEC	blood vessel

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