Variant report

Variant	rs12707690
Chromosome Location	chr7:84542156-84542157
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs10085515	0.83[CEU][hapmap];0.94[GIH][hapmap];0.84[MEX][hapmap];0.85[TSI][hapmap]
rs10256480	0.96[EUR][1000 genomes]
rs10267063	0.97[EUR][1000 genomes]
rs10277279	0.96[EUR][1000 genomes]
rs10954760	0.93[CHB][hapmap];0.92[CHD][hapmap];0.87[GIH][hapmap];0.88[JPT][hapmap]
rs10954761	0.81[ASN][1000 genomes]
rs11767793	0.83[EUR][1000 genomes]
rs11980701	1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12672643	0.87[GIH][hapmap]
rs12707680	0.83[ASN][1000 genomes]
rs13240109	0.97[ASN][1000 genomes]
rs1367365	0.94[EUR][1000 genomes]
rs1430593	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1579511	0.83[ASN][1000 genomes]
rs1583145	0.88[ASN][1000 genomes]
rs1583147	0.97[ASN][1000 genomes]
rs1594392	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1819081	0.91[GIH][hapmap]
rs1897152	0.98[EUR][1000 genomes]
rs1919287	0.83[CEU][hapmap];0.91[GIH][hapmap];0.80[TSI][hapmap]
rs1961063	0.83[CEU][hapmap]
rs1982016	0.88[ASN][1000 genomes]
rs2103312	0.80[GIH][hapmap]
rs28664611	0.96[EUR][1000 genomes]
rs34701264	0.88[ASN][1000 genomes]
rs4395839	0.87[GIH][hapmap]
rs4518607	0.83[CEU][hapmap];0.94[GIH][hapmap]
rs4563833	0.83[CEU][hapmap];0.94[GIH][hapmap];0.89[MEX][hapmap];0.85[TSI][hapmap]
rs705100	0.97[EUR][1000 genomes]
rs71560704	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7799648	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.85[TSI][hapmap];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs782891	0.97[EUR][1000 genomes]
rs782892	0.97[EUR][1000 genomes]
rs782893	0.95[EUR][1000 genomes]
rs782895	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs810667	0.98[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs919529	0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9642192	0.83[CEU][hapmap]
rs9649071	0.94[EUR][1000 genomes]
rs9649072	0.96[EUR][1000 genomes]
rs9649678	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs993219	0.83[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv949446	chr7:84003501-84763823	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	esv34238	chr7:84279023-84591966	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv2422324	chr7:84530290-84944913	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12707690	RUNDC3B	cis	parietal	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:84534400-84542600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr7:84536400-84542600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:84537600-84542400	Weak transcription	NHLF	lung
4	chr7:84537800-84543000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:84538000-84542600	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:84538400-84542400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:84538600-84542400	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:84538800-84542800	Weak transcription	NH-A	brain
9	chr7:84539200-84542600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr7:84540400-84543000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:84540400-84544000	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr7:84540600-84543400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr7:84540600-84544000	Enhancers	HUES48 Cell Line	embryonic stem cell
14	chr7:84541000-84542400	Weak transcription	K562	blood
15	chr7:84541600-84543000	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr7:84541800-84544000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr7:84541800-84544000	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr7:84541800-84544200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:84542000-84543200	Enhancers	HUES6 Cell Line	embryonic stem cell

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