Variant report

Variant	rs56015000
Chromosome Location	chr8:99310652-99310653
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:99302730..99307131-chr8:99308409..99313645,6	K562	blood:
2	chr8:99304759..99306655-chr8:99308409..99312233,3	K562	blood:
3	chr8:99251175..99252903-chr8:99308819..99310707,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000104361	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs57251745	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7002037	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7818279	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7819047	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv831406	chr8:99290745-99482076	Enhancers Bivalent/Poised TSS ZNF genes & repeats Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99304800-99312400	Weak transcription	K562	blood
2	chr8:99306800-99312400	Weak transcription	Gastric	stomach
3	chr8:99306800-99312600	Weak transcription	Spleen	Spleen
4	chr8:99306800-99317000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:99306800-99317200	Weak transcription	Esophagus	oesophagus
6	chr8:99307000-99311600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr8:99307000-99311800	Weak transcription	Lung	lung
8	chr8:99307200-99312400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr8:99307400-99312600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr8:99307400-99312800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr8:99307600-99311800	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:99308200-99311800	Weak transcription	Fetal Intestine Large	intestine
13	chr8:99309400-99310800	Enhancers	HepG2	liver
14	chr8:99309600-99310800	Enhancers	Stomach Mucosa	stomach
15	chr8:99309800-99312600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr8:99309800-99315000	Weak transcription	Right Atrium	heart
17	chr8:99310000-99311800	Weak transcription	NHLF	lung
18	chr8:99310000-99316800	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr8:99310200-99324200	Weak transcription	Fetal Heart	heart
20	chr8:99310400-99311400	Weak transcription	Fetal Intestine Small	intestine
21	chr8:99310400-99315200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:99310400-99317200	Weak transcription	Osteobl	bone
23	chr8:99310600-99310800	Enhancers	Aorta	Aorta
24	chr8:99310600-99310800	Enhancers	Psoas Muscle	Psoas
25	chr8:99310600-99311000	Enhancers	Left Ventricle	heart
26	chr8:99310600-99311000	Enhancers	Pancreas	Pancrea

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