Variant report

Variant	rs7004819
Chromosome Location	chr8:48532941-48532942
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2632496	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2632502	0.83[AMR][1000 genomes]
rs2725281	0.83[AMR][1000 genomes]
rs4873387	1.00[AMR][1000 genomes]
rs6473187	1.00[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6987282	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6988862	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
9	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:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48503600-48535000	Weak transcription	Dnd41	blood
2	chr8:48510600-48545400	Weak transcription	Esophagus	oesophagus
3	chr8:48512200-48556600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr8:48514000-48536800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr8:48515800-48540200	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:48517800-48540000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr8:48519400-48573600	Weak transcription	Primary T cells from cord blood	blood
8	chr8:48523200-48540000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr8:48523200-48545400	Weak transcription	Spleen	Spleen
10	chr8:48523800-48535200	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr8:48523800-48572200	Weak transcription	Primary B cells from cord blood	blood
12	chr8:48524000-48540200	Weak transcription	Fetal Stomach	stomach
13	chr8:48524200-48540200	Weak transcription	Right Atrium	heart
14	chr8:48525000-48544000	Weak transcription	Primary B cells from peripheral blood	blood
15	chr8:48525400-48540200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:48525600-48534000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr8:48525600-48535000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr8:48525800-48534800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr8:48525800-48556200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:48526000-48533600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr8:48526200-48533600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:48526200-48533800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr8:48526200-48533800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr8:48529600-48533000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:48530200-48534000	Weak transcription	NHEK	skin
26	chr8:48530400-48534000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:48531800-48535000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr8:48532000-48533000	Enhancers	Fetal Muscle Leg	muscle
29	chr8:48532000-48534600	Enhancers	Fetal Muscle Trunk	muscle
30	chr8:48532200-48533800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr8:48532200-48540200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:48532200-48540200	Weak transcription	Right Ventricle	heart
33	chr8:48532200-48543000	Weak transcription	Psoas Muscle	Psoas
34	chr8:48532400-48535000	Weak transcription	Pancreas	Pancrea
35	chr8:48532400-48540200	Weak transcription	Left Ventricle	heart
36	chr8:48532600-48535000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr8:48532600-48540000	Weak transcription	HSMMtube	muscle
38	chr8:48532600-48540200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr8:48532600-48540200	Weak transcription	Fetal Lung	lung
40	chr8:48532800-48534000	Weak transcription	HSMM	muscle
41	chr8:48532800-48534400	Weak transcription	Fetal Intestine Large	intestine
42	chr8:48532800-48540000	Weak transcription	Skeletal Muscle Female	skeletal muscle

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