Variant report

Variant	rs6472110
Chromosome Location	chr8:49784810-49784811
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:49784576..49787352-chr8:49790973..49793435,2	K562	blood:
2	chr8:49780791..49782303-chr8:49784724..49787609,2	MCF-7	breast:
3	chr8:49776905..49778799-chr8:49782300..49784837,2	K562	blood:
4	chr8:49779071..49781772-chr8:49783662..49786146,3	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs16939055	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6987879	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7011862	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7817186	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][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	nsv890854	chr8:49738821-49838908	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6472110	EFCAB1	cis	brain	BrainEAC

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49781400-49786400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:49781600-49787000	Enhancers	Fetal Brain Male	brain
3	chr8:49783200-49785400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:49783200-49785400	Weak transcription	NHDF-Ad	bronchial
5	chr8:49783200-49786800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr8:49783200-49786800	Enhancers	Muscle Satellite Cultured Cells	--
7	chr8:49783400-49785200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:49783400-49785400	Bivalent Enhancer	Fetal Stomach	stomach
9	chr8:49783400-49785600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr8:49783400-49786400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:49783400-49786600	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr8:49783400-49786600	Enhancers	NH-A	brain
13	chr8:49783400-49786800	Enhancers	HMEC	breast
14	chr8:49783400-49786800	Enhancers	Osteobl	bone
15	chr8:49783400-49787000	Enhancers	Placenta Amnion	Placenta Amnion
16	chr8:49783400-49791200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:49783600-49786400	Flanking Active TSS	NHEK	skin
18	chr8:49783800-49785000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr8:49783800-49786600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr8:49783800-49786600	Enhancers	K562	blood
21	chr8:49784000-49785000	Weak transcription	Esophagus	oesophagus
22	chr8:49784000-49785600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr8:49784000-49785600	Weak transcription	NHLF	lung
24	chr8:49784000-49789000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:49784200-49785200	Weak transcription	HUVEC	blood vessel
26	chr8:49784200-49786600	Enhancers	Fetal Lung	lung
27	chr8:49784200-49790800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr8:49784600-49785400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr8:49784600-49789400	Enhancers	Hela-S3	cervix
30	chr8:49784800-49785000	Enhancers	Fetal Muscle Leg	muscle
31	chr8:49784800-49785600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr8:49784800-49785600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr8:49784800-49785600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr8:49784800-49785800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr8:49784800-49786200	Enhancers	Fetal Brain Female	brain
36	chr8:49784800-49786400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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