Variant report

Variant	rs7830859
Chromosome Location	chr8:48526832-48526833
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:48524955..48527562-chr8:48528831..48532011,3	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10094128	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs10441581	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs12674784	0.86[EUR][1000 genomes]
rs13279327	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13280068	0.87[EUR][1000 genomes]
rs16930163	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2029239	0.81[ASN][1000 genomes]
rs2130411	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs4873386	0.83[ASN][1000 genomes]
rs4873446	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4873478	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs4873546	0.83[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs6986054	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs7462209	0.88[ASN][1000 genomes]
rs7827571	0.86[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7842068	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv890848	chr8:48405007-48535622	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv470211	chr8:48405007-48545961	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1027043	chr8:48444306-48637900	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv539596	chr8:48444306-48637900	ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1029297	chr8:48468835-48530803	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1030163	chr8:48468835-48544495	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv1803608	chr8:48506628-48874811	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48503600-48535000	Weak transcription	Dnd41	blood
2	chr8:48506600-48530600	Weak transcription	HepG2	liver
3	chr8:48510600-48545400	Weak transcription	Esophagus	oesophagus
4	chr8:48512200-48556600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr8:48513000-48532000	Weak transcription	Fetal Intestine Small	intestine
6	chr8:48514000-48536800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr8:48515600-48532000	Weak transcription	Fetal Lung	lung
8	chr8:48515800-48540200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:48516200-48528400	Weak transcription	Fetal Brain Male	brain
10	chr8:48517800-48540000	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:48519400-48573600	Weak transcription	Primary T cells from cord blood	blood
12	chr8:48522600-48527200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr8:48523200-48540000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:48523200-48545400	Weak transcription	Spleen	Spleen
15	chr8:48523400-48529400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr8:48523400-48532000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr8:48523400-48532000	Weak transcription	Gastric	stomach
18	chr8:48523800-48529200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:48523800-48529200	Weak transcription	NHEK	skin
20	chr8:48523800-48529600	Weak transcription	A549	lung
21	chr8:48523800-48531800	Weak transcription	Right Ventricle	heart
22	chr8:48523800-48531800	Weak transcription	HSMMtube	muscle
23	chr8:48523800-48532000	Weak transcription	Lung	lung
24	chr8:48523800-48535200	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr8:48523800-48572200	Weak transcription	Primary B cells from cord blood	blood
26	chr8:48524000-48530200	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr8:48524000-48532400	Weak transcription	HSMM	muscle
28	chr8:48524000-48540200	Weak transcription	Fetal Stomach	stomach
29	chr8:48524200-48540200	Weak transcription	Right Atrium	heart
30	chr8:48524600-48530400	Weak transcription	Brain Anterior Caudate	brain
31	chr8:48525000-48544000	Weak transcription	Primary B cells from peripheral blood	blood
32	chr8:48525200-48532000	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr8:48525400-48531800	Weak transcription	Left Ventricle	heart
34	chr8:48525400-48540200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:48525600-48530400	Weak transcription	Psoas Muscle	Psoas
36	chr8:48525600-48531800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr8:48525600-48532000	Weak transcription	Pancreas	Pancrea
38	chr8:48525600-48534000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:48525600-48535000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr8:48525800-48532000	Weak transcription	Fetal Muscle Leg	muscle
41	chr8:48525800-48534800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:48525800-48556200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr8:48526000-48530000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr8:48526000-48533600	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr8:48526200-48533600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr8:48526200-48533800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr8:48526200-48533800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr8:48526600-48527000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr8:48526600-48527600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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