Variant report

Variant	rs7003006
Chromosome Location	chr8:126479522-126479523
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs16900614	0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16900615	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55882275	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55987622	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57863956	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61002144	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61660593	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982940	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6987604	1.00[ASN][1000 genomes]
rs6987644	1.00[ASN][1000 genomes]
rs7008015	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126475800-126479600	Enhancers	Placenta	Placenta
2	chr8:126476600-126483000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr8:126477000-126479800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr8:126477200-126479800	Enhancers	HUVEC	blood vessel
5	chr8:126477400-126479600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:126477400-126485000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr8:126477600-126479600	Enhancers	Fetal Muscle Leg	muscle
8	chr8:126477600-126479600	Enhancers	NH-A	brain
9	chr8:126477600-126479800	Enhancers	Fetal Lung	lung
10	chr8:126477600-126480000	Enhancers	Fetal Muscle Trunk	muscle
11	chr8:126477800-126479600	Enhancers	Fetal Heart	heart
12	chr8:126477800-126479600	Enhancers	HSMM	muscle
13	chr8:126477800-126479800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr8:126477800-126479800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr8:126477800-126480000	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr8:126478000-126479600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr8:126478000-126479600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:126478000-126479600	Enhancers	Fetal Intestine Small	intestine
19	chr8:126478000-126479600	Enhancers	NHLF	lung
20	chr8:126478000-126479800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:126478000-126479800	Enhancers	Monocytes-CD14+_RO01746	blood
22	chr8:126478200-126479600	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr8:126478600-126479600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:126478600-126479600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:126478600-126479600	Enhancers	Primary hematopoietic stem cells	blood
26	chr8:126478800-126479600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:126478800-126479600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr8:126478800-126479600	Enhancers	Muscle Satellite Cultured Cells	--
29	chr8:126478800-126479600	Enhancers	Duodenum Mucosa	Duodenum
30	chr8:126478800-126479600	Flanking Active TSS	HepG2	liver
31	chr8:126478800-126479800	Enhancers	K562	blood
32	chr8:126479000-126479600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr8:126479000-126479600	Enhancers	Right Ventricle	heart
34	chr8:126479200-126479600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr8:126479200-126479600	Enhancers	A549	lung
36	chr8:126479200-126479600	Enhancers	Osteobl	bone
37	chr8:126479200-126479800	Enhancers	NHEK	skin
38	chr8:126479200-126482600	Weak transcription	Fetal Brain Female	brain
39	chr8:126479400-126480400	Weak transcription	Stomach Mucosa	stomach
40	chr8:126479400-126480800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr8:126479400-126480800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr8:126479400-126481000	Enhancers	Hela-S3	cervix
43	chr8:126479400-126481200	Weak transcription	Adipose Nuclei	Adipose
44	chr8:126479400-126481200	Weak transcription	Fetal Intestine Large	intestine
45	chr8:126479400-126481200	Weak transcription	Lung	lung
46	chr8:126479400-126481200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr8:126479400-126481400	Weak transcription	Left Ventricle	heart
48	chr8:126479400-126481400	Weak transcription	Psoas Muscle	Psoas
49	chr8:126479400-126481400	Weak transcription	Right Atrium	heart
50	chr8:126479400-126481800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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