Variant report

Variant	rs6999582
Chromosome Location	chr8:124558058-124558059
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124552906..124554465-chr8:124555957..124558411,2	K562	blood:
2	chr8:124541977..124544419-chr8:124557685..124559336,2	MCF-7	breast:
3	chr8:124558050..124560805-chr8:125484658..125486261,2	MCF-7	breast:
4	chr16:71057103..71057948-chr8:124557369..124558187,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156804	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs140613	1.00[AFR][1000 genomes]
rs17254069	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17254421	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17255071	0.83[AMR][1000 genomes]
rs17255197	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17337621	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17338552	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17338860	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17339357	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs17340040	0.83[AMR][1000 genomes]
rs62518434	1.00[AFR][1000 genomes]
rs62518437	1.00[AFR][1000 genomes]
rs62518438	1.00[AFR][1000 genomes]
rs62518439	1.00[AFR][1000 genomes]
rs62518440	1.00[AFR][1000 genomes]
rs62518561	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62518563	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62518564	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62520862	1.00[AFR][1000 genomes]
rs62520863	1.00[AFR][1000 genomes]
rs62520870	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62520871	0.83[AMR][1000 genomes]
rs62520874	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62520908	0.83[AMR][1000 genomes]
rs62520911	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62520913	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62520914	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62520917	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62520918	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62520919	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62520920	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62520921	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62520923	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62520926	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs62520927	1.00[AFR][1000 genomes]
rs62521279	1.00[AFR][1000 genomes]
rs62521284	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62521286	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62521287	0.98[EUR][1000 genomes]
rs62521288	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62521289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs62521291	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62521292	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs62523171	1.00[AFR][1000 genomes]
rs7827535	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7827608	1.00[AFR][1000 genomes]
rs7832861	1.00[AFR][1000 genomes];0.83[AMR][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	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv525827	chr8:124555235-124565311	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124554400-124558800	Weak transcription	Hela-S3	cervix
2	chr8:124554400-124558800	Weak transcription	HSMM	muscle
3	chr8:124554400-124558800	Weak transcription	Osteobl	bone
4	chr8:124554400-124559000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr8:124554400-124559000	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr8:124554400-124559000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr8:124554400-124559200	Weak transcription	Ovary	ovary
8	chr8:124554400-124559200	Weak transcription	Right Atrium	heart
9	chr8:124554400-124563600	Weak transcription	Aorta	Aorta
10	chr8:124554600-124558600	Weak transcription	Left Ventricle	heart
11	chr8:124554600-124558600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:124554600-124558600	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:124554600-124558800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr8:124554600-124558800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr8:124554600-124558800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr8:124554600-124558800	Weak transcription	Fetal Intestine Small	intestine
17	chr8:124554600-124558800	Weak transcription	Rectal Smooth Muscle	rectum
18	chr8:124554600-124558800	Weak transcription	A549	lung
19	chr8:124554600-124558800	Weak transcription	HMEC	breast
20	chr8:124554600-124558800	Weak transcription	HSMMtube	muscle
21	chr8:124554600-124558800	Weak transcription	NHDF-Ad	bronchial
22	chr8:124554600-124559000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr8:124554600-124559000	Weak transcription	NHEK	skin
24	chr8:124554600-124559200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:124554600-124559200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:124554600-124559200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr8:124554600-124559200	Weak transcription	Fetal Intestine Large	intestine
28	chr8:124554600-124559200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr8:124554600-124560200	Weak transcription	Small Intestine	intestine
30	chr8:124554600-124560200	Weak transcription	NHLF	lung
31	chr8:124554600-124560800	Weak transcription	Esophagus	oesophagus
32	chr8:124554600-124562400	Weak transcription	Adipose Nuclei	Adipose
33	chr8:124554600-124563400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:124554600-124563600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:124554800-124558800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr8:124554800-124559200	Weak transcription	Colon Smooth Muscle	Colon
37	chr8:124555000-124558800	Weak transcription	Fetal Heart	heart
38	chr8:124555000-124558800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr8:124555200-124558800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr8:124556000-124559000	Weak transcription	Primary T helper cells PMA-I stimulated	--

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