Variant report

Variant	rs62523863
Chromosome Location	chr8:126520544-126520545
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:126519872..126521908-chr8:126523725..126526407,2	K562	blood:
2	chr8:126518353..126521335-chr8:126539597..126541108,2	K562	blood:
3	chr8:126520525..126522060-chr8:126604216..126606404,2	MCF-7	breast:
4	chr8:126515469..126518186-chr8:126519785..126522159,2	MCF-7	breast:
5	chr8:126445851..126449069-chr8:126519424..126522982,4	MCF-7	breast:
6	chr8:126519998..126523591-chr8:126523937..126526687,3	MCF-7	breast:
7	chr8:126520498..126522119-chr8:126613658..126615873,2	MCF-7	breast:
8	chr8:126443020..126445229-chr8:126519240..126521392,2	MCF-7	breast:
9	chr8:126449994..126451662-chr8:126518282..126520789,2	MCF-7	breast:
10	chr8:126511979..126514547-chr8:126519373..126521344,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12114418	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4512391	0.90[ASN][1000 genomes]
rs4545126	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4604455	0.90[ASN][1000 genomes]
rs7012891	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7832357	0.90[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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126510400-126521200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:126511400-126521400	Weak transcription	Hela-S3	cervix
3	chr8:126511400-126522000	Weak transcription	Fetal Lung	lung
4	chr8:126511800-126524000	Weak transcription	Brain Hippocampus Middle	brain
5	chr8:126512800-126525000	Weak transcription	Esophagus	oesophagus
6	chr8:126514600-126522000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:126514800-126524200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:126516400-126525000	Weak transcription	Psoas Muscle	Psoas
9	chr8:126517200-126529000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr8:126517600-126528000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:126517800-126520600	Enhancers	Fetal Thymus	thymus
12	chr8:126517800-126520800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:126517800-126522400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr8:126517800-126522600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr8:126517800-126522800	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr8:126517800-126523600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr8:126518000-126520600	Enhancers	Placenta	Placenta
18	chr8:126518000-126522200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr8:126518000-126522400	Enhancers	Primary T helper naive cells from peripheral blood	blood
20	chr8:126518000-126523400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr8:126518000-126534400	Weak transcription	Right Atrium	heart
22	chr8:126518200-126524000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr8:126518400-126524000	Enhancers	GM12878-XiMat	blood
24	chr8:126518400-126524400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr8:126518600-126521200	Enhancers	Primary B cells from peripheral blood	blood
26	chr8:126518600-126522200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr8:126518600-126523400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr8:126518600-126528800	Weak transcription	Right Ventricle	heart
29	chr8:126518600-126529400	Enhancers	Primary T cells fromperipheralblood	blood
30	chr8:126518800-126520800	Weak transcription	Lung	lung
31	chr8:126518800-126523400	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr8:126518800-126524000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr8:126518800-126524200	Weak transcription	Liver	Liver
34	chr8:126519000-126524800	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr8:126519200-126524800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:126519400-126521200	Weak transcription	Adipose Nuclei	Adipose
37	chr8:126519400-126521600	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr8:126519400-126522400	Weak transcription	Spleen	Spleen
39	chr8:126519400-126524400	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr8:126519800-126523000	Weak transcription	Primary B cells from cord blood	blood
41	chr8:126519800-126524200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr8:126519800-126524600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr8:126520000-126521800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr8:126520200-126521200	Weak transcription	HepG2	liver
45	chr8:126520400-126520600	Enhancers	Fetal Muscle Leg	muscle
46	chr8:126520400-126522800	Enhancers	HUVEC	blood vessel
47	chr8:126520400-126524600	Weak transcription	Primary hematopoietic stem cells	blood

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