Variant report

Variant	rs10867403
Chromosome Location	chr9:71970080-71970081
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10780360	0.89[YRI][hapmap]
rs11138400	0.89[YRI][hapmap]
rs11138419	0.87[YRI][hapmap]
rs11138927	0.82[YRI][hapmap]
rs12235168	0.82[YRI][hapmap]
rs1331979	1.00[YRI][hapmap]
rs2244720	0.89[YRI][hapmap]
rs2297421	0.82[YRI][hapmap]
rs7357615	0.89[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051723	chr9:71398713-71971285	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1049175	chr9:71418242-71986910	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv817406	chr9:71675454-72179318	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv831610	chr9:71846941-72016835	Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv893428	chr9:71926658-72027641	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv893429	chr9:71961923-72047337	ZNF genes & repeats Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv893430	chr9:71968730-72036369	Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer 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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs10867403	TJP2	cis	parietal	SCAN
rs10867403	C9orf57	cis	cerebellum	SCAN
rs10867403	TJP2	cis	cerebellum	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71955400-71981800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr9:71962200-71994200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr9:71962400-71970400	Weak transcription	Right Ventricle	heart
4	chr9:71962400-71970600	Weak transcription	Left Ventricle	heart
5	chr9:71962400-71978000	Weak transcription	Gastric	stomach
6	chr9:71962600-71970600	Weak transcription	Psoas Muscle	Psoas
7	chr9:71963200-71971800	Weak transcription	Ovary	ovary
8	chr9:71963200-71991800	Weak transcription	Pancreas	Pancrea
9	chr9:71969600-71970400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr9:71969600-71970800	Enhancers	Fetal Heart	heart
11	chr9:71969800-71973400	Enhancers	Skeletal Muscle Male	skeletal muscle
12	chr9:71970000-71970400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr9:71970000-71971000	Weak transcription	Stomach Smooth Muscle	stomach

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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