Variant report

Variant	rs4968828
Chromosome Location	chr17:67001568-67001569
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11871766	0.82[JPT][hapmap]
rs12940103	0.81[EUR][1000 genomes]
rs4147979	1.00[LWK][hapmap]
rs6501944	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7215642	0.82[JPT][hapmap]
rs7218871	0.84[EUR][1000 genomes]
rs8066758	0.82[JPT][hapmap]
rs8068236	0.82[JPT][hapmap];0.83[EUR][1000 genomes]
rs9303006	0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9789083	0.95[CHB][hapmap]

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	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833526	chr17:66980758-67137034	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4968828	ABCA9	cis	parietal	SCAN
rs4968828	TACO1	cis	cerebellum	SCAN
rs4968828	ABCA6	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66977800-67027400	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr17:66979400-67005400	Weak transcription	Psoas Muscle	Psoas
3	chr17:66980400-67009400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr17:66989600-67004200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr17:66989800-67011000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr17:66992200-67003000	Weak transcription	Ovary	ovary
7	chr17:67000000-67007400	Weak transcription	Rectal Smooth Muscle	rectum
8	chr17:67000200-67044200	Weak transcription	Right Ventricle	heart
9	chr17:67001200-67001600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
10	chr17:67001200-67001600	Flanking Active TSS	H9 Cell Line	embryonic stem cell
11	chr17:67001200-67001600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
12	chr17:67001200-67001600	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr17:67001200-67001600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
14	chr17:67001200-67001600	Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr17:67001200-67001600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr17:67001200-67001800	Strong transcription	Left Ventricle	heart
17	chr17:67001200-67001800	Strong transcription	Skeletal Muscle Male	skeletal muscle
18	chr17:67001200-67006000	Strong transcription	Liver	Liver
19	chr17:67001200-67009400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr17:67001200-67014600	Strong transcription	Adipose Nuclei	Adipose
21	chr17:67001400-67001600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr17:67001400-67001600	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr17:67001400-67001600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr17:67001400-67001600	ZNF genes & repeats	Fetal Muscle Leg	muscle
25	chr17:67001400-67002400	ZNF genes & repeats	Fetal Lung	lung
26	chr17:67001400-67005800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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