Variant report

Variant	rs6999637
Chromosome Location	chr8:58974597-58974598
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:58973927..58975481-chr8:58979211..58981021,2	K562	blood:

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

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

rs_ID	r²[population]
rs10092410	0.95[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28603007	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28638177	0.87[AMR][1000 genomes]
rs28711000	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs28760587	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7011992	0.80[AFR][1000 genomes];0.87[AMR][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	nsv831324	chr8:58844151-59045309	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong 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	5 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	chr8:58935600-58988800	Weak transcription	Aorta	Aorta
2	chr8:58952200-58986400	Weak transcription	Adipose Nuclei	Adipose
3	chr8:58952800-58979600	Weak transcription	HSMMtube	muscle
4	chr8:58958000-58979000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr8:58963600-58978400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:58963800-58978800	Weak transcription	Fetal Muscle Trunk	muscle
7	chr8:58966600-58980000	Weak transcription	Ovary	ovary
8	chr8:58968800-58981000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr8:58969800-58979800	Weak transcription	HSMM	muscle
10	chr8:58970000-58978600	Weak transcription	Lung	lung
11	chr8:58970000-58978600	Weak transcription	Right Atrium	heart
12	chr8:58970000-58979000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr8:58970200-58975400	Weak transcription	Right Ventricle	heart
14	chr8:58970400-58978800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr8:58970600-58975200	Weak transcription	Fetal Lung	lung
16	chr8:58970600-58975200	Weak transcription	Fetal Stomach	stomach
17	chr8:58970600-58978600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:58970600-58979000	Weak transcription	NH-A	brain
19	chr8:58971000-58977600	Weak transcription	Fetal Kidney	kidney
20	chr8:58971200-58982800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr8:58972600-58974600	Enhancers	Cortex derived primary cultured neurospheres	brain
22	chr8:58972600-58976000	Enhancers	Fetal Heart	heart
23	chr8:58973200-58979800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr8:58973400-58974800	Enhancers	Brain Germinal Matrix	brain
25	chr8:58973600-58974600	Enhancers	Colon Smooth Muscle	Colon
26	chr8:58973600-58978600	Weak transcription	Psoas Muscle	Psoas
27	chr8:58973600-58982600	Weak transcription	Spleen	Spleen
28	chr8:58974000-58975200	Weak transcription	Fetal Brain Female	brain
29	chr8:58974000-58975400	Weak transcription	Fetal Muscle Leg	muscle
30	chr8:58974000-58979800	Weak transcription	NHLF	lung
31	chr8:58974200-58974600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr8:58974200-58978600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:58974200-58979000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:58974400-58974600	Enhancers	Fetal Brain Male	brain
35	chr8:58974400-58975000	Enhancers	Brain Anterior Caudate	brain
36	chr8:58974400-58975400	Weak transcription	Left Ventricle	heart
37	chr8:58974400-58978200	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr8:58974400-58979200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:58974400-58979200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr8:58974400-58979200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr8:58974400-58979600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr8:58974400-58979600	Weak transcription	NHDF-Ad	bronchial

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