Variant report

Variant	rs62521283
Chromosome Location	chr8:124547902-124547903
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124541073..124543333-chr8:124545616..124548578,2	K562	blood:
2	chr8:124547216..124549099-chr8:124550167..124552257,3	K562	blood:
3	chr8:124547880..124549837-chr8:124702727..124704523,2	MCF-7	breast:
4	chr8:124546333..124550702-chr8:124551890..124554582,6	K562	blood:
5	chr8:124527950..124529470-chr8:124546370..124548272,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000156804	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11986010	1.00[ASN][1000 genomes]
rs11986300	1.00[ASN][1000 genomes]
rs11992825	1.00[ASN][1000 genomes]
rs11996069	1.00[ASN][1000 genomes]
rs13439060	1.00[ASN][1000 genomes]
rs57385663	1.00[ASN][1000 genomes]
rs59488911	1.00[ASN][1000 genomes]
rs62520915	1.00[ASN][1000 genomes]
rs62521280	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62521282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7000759	1.00[ASN][1000 genomes]
rs7006420	1.00[ASN][1000 genomes]
rs9650084	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	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

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124510200-124549200	Weak transcription	Fetal Brain Male	brain
2	chr8:124533800-124552000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr8:124538400-124552200	Weak transcription	Primary B cells from cord blood	blood
4	chr8:124542600-124548200	Weak transcription	Right Atrium	heart
5	chr8:124542800-124550400	Weak transcription	GM12878-XiMat	blood
6	chr8:124542800-124552400	Weak transcription	Hela-S3	cervix
7	chr8:124544200-124548000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr8:124544400-124548600	Weak transcription	NHLF	lung
9	chr8:124544400-124549800	Weak transcription	Spleen	Spleen
10	chr8:124544400-124550200	Weak transcription	Colonic Mucosa	Colon
11	chr8:124544600-124548400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr8:124544600-124550400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr8:124544600-124550600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:124544600-124550600	Weak transcription	Pancreas	Pancrea
15	chr8:124544600-124551800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:124544600-124552200	Weak transcription	Gastric	stomach
17	chr8:124544800-124549200	Weak transcription	Fetal Brain Female	brain
18	chr8:124544800-124549800	Weak transcription	Esophagus	oesophagus
19	chr8:124544800-124550400	Weak transcription	Lung	lung
20	chr8:124544800-124552200	Weak transcription	Liver	Liver
21	chr8:124545000-124548400	Weak transcription	Aorta	Aorta
22	chr8:124545000-124549400	Weak transcription	Right Ventricle	heart
23	chr8:124545000-124549800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr8:124545000-124549800	Weak transcription	Fetal Muscle Leg	muscle
25	chr8:124545000-124550000	Weak transcription	Placenta	Placenta
26	chr8:124545000-124552000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:124545200-124552200	Weak transcription	Primary B cells from peripheral blood	blood
28	chr8:124545400-124548200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr8:124545400-124549200	Weak transcription	Adipose Nuclei	Adipose
30	chr8:124545400-124549800	Weak transcription	Ovary	ovary
31	chr8:124545400-124550400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:124545400-124551400	Weak transcription	Fetal Intestine Large	intestine
33	chr8:124545600-124548600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr8:124545600-124549200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr8:124546000-124550600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:124546200-124549800	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr8:124546200-124549800	Weak transcription	Left Ventricle	heart
38	chr8:124546200-124550400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr8:124546200-124550800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr8:124546200-124552000	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr8:124546400-124548600	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr8:124546400-124549000	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr8:124546400-124549200	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr8:124546400-124549800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr8:124546400-124551800	Enhancers	Primary T cells from cord blood	blood
46	chr8:124546600-124548000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr8:124546600-124548400	Enhancers	Brain Substantia Nigra	brain
48	chr8:124546600-124548600	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr8:124546600-124548600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:124546600-124548600	Enhancers	Osteobl	bone

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