Variant report

Variant	rs6470757
Chromosome Location	chr8:130691025-130691026
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:128746982..128749099-chr8:130690329..130692917,2	K562	blood:
2	chr8:130689876..130691516-chr8:130698060..130699622,2	K562	blood:
3	chr8:130688486..130691516-chr8:130701686..130704518,3	K562	blood:
4	chr8:130690016..130691591-chr8:130697534..130699622,2	K562	blood:

Variant related genes	Relation type
ENSG00000136997	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs6999819	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9297796	0.84[JPT][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	nsv891446	chr8:130656205-130710638	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6470757	KCNQ3	cis	cerebellum	SCAN
rs6470757	GSDMC	cis	parietal	SCAN
rs6470757	SLC5A3	trans	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130682600-130694000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr8:130686000-130691200	Weak transcription	Fetal Lung	lung
3	chr8:130688200-130693800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr8:130688800-130691200	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr8:130689200-130694000	Weak transcription	Osteobl	bone
6	chr8:130689400-130691200	Weak transcription	Primary B cells from peripheral blood	blood
7	chr8:130689400-130697400	Weak transcription	HMEC	breast
8	chr8:130689600-130694200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:130689800-130692600	Enhancers	Primary hematopoietic stem cells	blood
10	chr8:130689800-130694000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr8:130689800-130694000	Enhancers	Dnd41	blood
12	chr8:130690000-130691600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
13	chr8:130690000-130694000	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:130690200-130691800	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr8:130690200-130692000	Enhancers	Placenta	Placenta
16	chr8:130690400-130692600	Enhancers	Fetal Muscle Leg	muscle
17	chr8:130690800-130692000	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr8:130691000-130691200	Enhancers	A549	lung
19	chr8:130691000-130691200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr8:130691000-130691400	Flanking Active TSS	K562	blood
21	chr8:130691000-130691600	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr8:130691000-130691800	Enhancers	Fetal Muscle Trunk	muscle
23	chr8:130691000-130692000	Enhancers	Primary neutrophils fromperipheralblood	blood
24	chr8:130691000-130692000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:130691000-130692400	Enhancers	Psoas Muscle	Psoas
26	chr8:130691000-130692600	Enhancers	Skeletal Muscle Female	skeletal muscle

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