Variant report

Variant	rs62530690
Chromosome Location	chr8:125655714-125655715
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	chr8:125653729..125655984-chr8:125656815..125658941,3	K562	blood:
2	chr8:125649125..125655229-chr8:125655458..125659458,6	K562	blood:
3	chr8:125653582..125656116-chr8:125824961..125827801,3	K562	blood:
4	chr8:125654543..125656464-chr8:125660143..125662820,2	MCF-7	breast:
5	chr8:125654082..125656755-chr8:125691015..125693469,2	MCF-7	breast:
6	chr8:125639927..125641909-chr8:125654623..125657042,2	MCF-7	breast:
7	chr8:125654604..125657235-chr8:125659497..125661452,3	K562	blood:
8	chr8:125634912..125639122-chr8:125652761..125656973,4	K562	blood:
9	chr8:125646525..125649000-chr8:125654557..125656229,2	K562	blood:
10	chr8:125654495..125656872-chr8:125662279..125664875,2	K562	blood:

No data

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10105407	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11777231	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11778543	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11780949	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4510845	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4870915	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4871524	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4871525	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56995505	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62530686	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62530688	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62530689	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6992199	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7017138	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7827042	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7840832	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[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	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125641200-125664200	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:125643400-125656200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:125643800-125656000	Weak transcription	HMEC	breast
4	chr8:125643800-125666200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:125645600-125661800	Enhancers	Fetal Thymus	thymus
6	chr8:125645800-125657600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:125646000-125656400	Enhancers	Primary B cells from cord blood	blood
8	chr8:125646400-125657600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr8:125646400-125657800	Enhancers	Primary T cells fromperipheralblood	blood
10	chr8:125646600-125656800	Enhancers	Primary hematopoietic stem cells	blood
11	chr8:125646600-125658000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr8:125646600-125658600	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr8:125646600-125659000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:125646800-125658000	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr8:125647000-125657200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr8:125649600-125656200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:125649800-125660200	Weak transcription	Right Ventricle	heart
18	chr8:125649800-125662800	Weak transcription	Pancreas	Pancrea
19	chr8:125650000-125665200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:125650000-125665200	Weak transcription	Fetal Intestine Small	intestine
21	chr8:125650000-125666800	Weak transcription	Esophagus	oesophagus
22	chr8:125650800-125656200	Weak transcription	HSMM	muscle
23	chr8:125650800-125660600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:125651000-125656400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr8:125651000-125660200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr8:125651400-125663400	Weak transcription	Placenta	Placenta
27	chr8:125652200-125656200	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr8:125652200-125656200	Enhancers	Primary T killer memory cells from peripheral blood	blood
29	chr8:125652200-125657000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr8:125652200-125657000	Enhancers	Brain Germinal Matrix	brain
31	chr8:125652200-125658200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr8:125652400-125656200	Weak transcription	HUVEC	blood vessel
33	chr8:125652600-125657000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr8:125653200-125658400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr8:125653400-125656600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr8:125653400-125657000	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr8:125653400-125657000	Enhancers	Fetal Brain Male	brain
38	chr8:125653400-125657400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr8:125653600-125656400	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr8:125653800-125661200	Weak transcription	Brain Substantia Nigra	brain
41	chr8:125654000-125661000	Weak transcription	Psoas Muscle	Psoas
42	chr8:125654000-125666800	Weak transcription	Fetal Muscle Leg	muscle
43	chr8:125654400-125656000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr8:125654600-125656000	Weak transcription	Fetal Heart	heart
45	chr8:125654600-125656200	Enhancers	Primary T cells from cord blood	blood
46	chr8:125654600-125656600	Enhancers	Thymus	Thymus
47	chr8:125654600-125658600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr8:125654800-125656000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr8:125654800-125656000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr8:125654800-125656200	Weak transcription	Fetal Lung	lung

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