Variant report

Variant	rs703639
Chromosome Location	chr12:104064698-104064699
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs697201	0.81[ASN][1000 genomes]
rs703635	0.81[EUR][1000 genomes]
rs703636	1.00[GIH][hapmap];0.93[TSI][hapmap]
rs703640	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs703641	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs703643	0.93[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.82[MKK][hapmap];0.96[TSI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs703644	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs703645	1.00[CHB][hapmap];0.97[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[ASN][1000 genomes]
rs7968868	1.00[YRI][hapmap]
rs831427	1.00[GIH][hapmap];0.93[TSI][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	nsv865	chr12:104030102-104074864	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv560038	chr12:104053420-104092996	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv524064	chr12:104061597-104065846	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs703639	HSP90B1	cis	parietal	SCAN
rs703639	NT5DC3	cis	cerebellum	SCAN

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104063000-104064800	Enhancers	iPS-20b Cell Line	embryonic stem cell
2	chr12:104063000-104067400	Weak transcription	Spleen	Spleen
3	chr12:104063200-104064800	Enhancers	H9 Cell Line	embryonic stem cell
4	chr12:104063200-104064800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr12:104063400-104064800	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr12:104063600-104064800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr12:104063600-104064800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr12:104064000-104064800	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr12:104064000-104072000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr12:104064400-104064800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr12:104064400-104065800	Weak transcription	Fetal Intestine Large	intestine
12	chr12:104064400-104067400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:104064400-104071000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:104064600-104071200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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