Variant report

Variant	rs6470197
Chromosome Location	chr8:124890046-124890047
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124889419..124892417-chr8:124901110..124903645,2	K562	blood:
2	chr8:124889119..124891271-chr8:124903974..124906371,3	K562	blood:
3	chr8:124885902..124887996-chr8:124888076..124890875,3	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs13254500	0.91[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13282068	0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4242347	0.94[CEU][hapmap];0.93[CHB][hapmap];0.84[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4466383	0.88[CEU][hapmap];0.85[CHB][hapmap];0.94[JPT][hapmap];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4504619	0.94[CEU][hapmap];0.83[JPT][hapmap];0.90[EUR][1000 genomes]
rs4571718	0.94[CEU][hapmap];0.93[CHB][hapmap];0.94[JPT][hapmap];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6470198	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6470200	0.93[CEU][hapmap];0.86[CHB][hapmap];0.87[JPT][hapmap];0.90[EUR][1000 genomes]
rs6470201	0.94[CEU][hapmap];0.82[CHB][hapmap];0.88[JPT][hapmap];0.90[EUR][1000 genomes]
rs6983143	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7006533	0.94[CEU][hapmap];0.88[EUR][1000 genomes]
rs7843017	0.94[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap]

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	nsv6374	chr8:124854157-124899409	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6470197	TATDN1	cis	parietal	SCAN
rs6470197	TMEM65	cis	cerebellum	SCAN
rs6470197	UBE2J1	trans	parietal	SCAN

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124887800-124892200	Enhancers	NHDF-Ad	bronchial
2	chr8:124888200-124893800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:124888800-124891600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr8:124889000-124890400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:124889000-124890400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr8:124889200-124890400	Enhancers	Muscle Satellite Cultured Cells	--
7	chr8:124889200-124890400	Enhancers	HSMMtube	muscle
8	chr8:124889200-124891000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr8:124889200-124891000	Enhancers	HSMM	muscle
10	chr8:124889200-124891400	Enhancers	Adipose Nuclei	Adipose
11	chr8:124889200-124891600	Enhancers	Fetal Muscle Leg	muscle
12	chr8:124889200-124892200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:124889400-124891000	Enhancers	Osteobl	bone
14	chr8:124889400-124891400	Enhancers	NHLF	lung
15	chr8:124889400-124894600	Weak transcription	Right Atrium	heart
16	chr8:124889600-124890400	Enhancers	A549	lung
17	chr8:124889600-124890800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr8:124889600-124891000	Enhancers	Psoas Muscle	Psoas
19	chr8:124889600-124891000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr8:124889600-124891600	Enhancers	Fetal Muscle Trunk	muscle
21	chr8:124889800-124890200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:124889800-124890400	Enhancers	Hela-S3	cervix
23	chr8:124889800-124890800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr8:124889800-124891000	Enhancers	NH-A	brain
25	chr8:124890000-124890400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr8:124890000-124890600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr8:124890000-124891000	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr8:124890000-124891000	Enhancers	K562	blood
29	chr8:124890000-124891200	Enhancers	HUES64 Cell Line	embryonic stem cell

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