Variant report

Variant	rs4916831
Chromosome Location	chr5:90212276-90212277
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:90205148..90207152-chr5:90211659..90214340,2	MCF-7	breast:

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10035307	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10045202	0.80[EUR][1000 genomes]
rs10054039	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs10073898	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs10078568	0.89[CEU][hapmap];0.80[EUR][1000 genomes]
rs10942621	1.00[JPT][hapmap]
rs11741599	0.82[ASN][1000 genomes]
rs11742679	1.00[JPT][hapmap]
rs11744110	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs11747245	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs11957689	1.00[JPT][hapmap]
rs12514684	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs12520956	0.82[CEU][hapmap]
rs12523056	0.81[CEU][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs16869305	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs17633569	0.84[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs1995774	1.00[JPT][hapmap]
rs1995775	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs2367181	0.93[ASN][1000 genomes]
rs28368305	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3105793	0.89[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs34088804	0.98[ASN][1000 genomes]
rs4244205	0.85[GIH][hapmap];0.81[TSI][hapmap];0.80[EUR][1000 genomes]
rs4496735	0.85[GIH][hapmap];0.86[TSI][hapmap];0.82[EUR][1000 genomes]
rs4580808	0.82[EUR][1000 genomes]
rs4637585	0.80[EUR][1000 genomes]
rs4916833	0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs57190680	0.97[ASN][1000 genomes]
rs61424527	0.97[ASN][1000 genomes]
rs62374016	0.98[ASN][1000 genomes]
rs6858917	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6859871	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs6860068	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs6860111	1.00[JPT][hapmap]
rs6865241	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs6865267	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs6868618	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6871445	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs6879563	0.89[CHD][hapmap];1.00[JPT][hapmap]
rs6881586	0.83[CHB][hapmap];0.95[JPT][hapmap]
rs6881722	0.83[CHD][hapmap];1.00[JPT][hapmap]
rs6883495	0.86[CHD][hapmap];1.00[JPT][hapmap]
rs6889986	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6891672	0.89[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs6896106	1.00[JPT][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	nsv529544	chr5:89523963-90412409	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv1015449	chr5:89968626-90219398	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	nsv517049	chr5:90003131-90262475	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	esv2754394	chr5:90181320-90225796	Active TSS Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4916831	C5orf36	cis	parietal	SCAN

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:90185000-90226600	Weak transcription	K562	blood
2	chr5:90186400-90218000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:90205000-90225000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr5:90205200-90217600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:90205200-90219200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:90207400-90212800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:90208000-90231000	Weak transcription	Brain Anterior Caudate	brain
8	chr5:90208200-90213400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr5:90208600-90217400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:90211400-90217600	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr5:90211600-90212800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:90211600-90225000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr5:90211600-90225000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:90211800-90212800	Weak transcription	Fetal Kidney	kidney
15	chr5:90212000-90213000	Weak transcription	A549	lung
16	chr5:90212000-90215000	Enhancers	Liver	Liver
17	chr5:90212200-90212600	Weak transcription	HepG2	liver

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