Variant report

Variant	rs7031263
Chromosome Location	chr9:71384758-71384759
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	chr9:71382624..71385471-chr9:71389854..71391837,2	K562	blood:
2	chr9:71382779..71384863-chr9:71399277..71400843,2	MCF-7	breast:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10511964	0.81[CHD][hapmap]
rs10511965	0.83[CEU][hapmap];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10735625	0.85[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.92[JPT][hapmap];0.86[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];0.90[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10746925	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12345874	0.94[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12350270	0.87[MEX][hapmap]
rs1336492	0.88[CEU][hapmap];0.88[GIH][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs1537885	0.92[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.84[MEX][hapmap];0.82[MKK][hapmap];0.81[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17391162	1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.92[JPT][hapmap];0.88[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17391596	0.83[TSI][hapmap]
rs17391840	0.81[TSI][hapmap]
rs17482181	0.92[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];0.95[LWK][hapmap];0.88[MEX][hapmap];0.90[MKK][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17482797	0.80[GIH][hapmap]
rs58220469	0.89[ASN][1000 genomes]
rs58384767	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs59031138	0.93[ASN][1000 genomes]
rs59550441	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61221055	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs66460517	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs67047473	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67457572	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7018552	0.83[CEU][hapmap];0.84[MEX][hapmap];0.88[TSI][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7044460	0.83[CEU][hapmap];0.94[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7049222	0.95[CEU][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72717927	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7853795	0.81[CEU][hapmap];0.82[EUR][1000 genomes]
rs8114	0.84[CHB][hapmap]
rs945575	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs950785	0.94[CHB][hapmap];0.84[JPT][hapmap];0.89[ASN][1000 genomes]
rs952590	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs972059	0.81[EUR][1000 genomes]

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	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7031263	SMC5	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71374000-71388800	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr9:71378000-71388400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr9:71378400-71394200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:71378800-71393800	Weak transcription	Primary B cells from cord blood	blood
5	chr9:71378800-71393800	Weak transcription	Primary B cells from peripheral blood	blood
6	chr9:71379000-71386000	Weak transcription	Primary hematopoietic stem cells	blood
7	chr9:71379000-71389000	Weak transcription	K562	blood
8	chr9:71383000-71388800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:71383200-71385000	Enhancers	Brain Germinal Matrix	brain
10	chr9:71383200-71385400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr9:71383400-71385400	Weak transcription	Right Ventricle	heart
12	chr9:71383600-71393800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr9:71383800-71393600	Weak transcription	Left Ventricle	heart
14	chr9:71384000-71385200	Enhancers	Fetal Intestine Small	intestine
15	chr9:71384000-71386400	Weak transcription	Fetal Heart	heart
16	chr9:71384000-71394200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr9:71384400-71386200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:71384600-71385400	Enhancers	Adipose Nuclei	Adipose
19	chr9:71384600-71386400	Enhancers	Stomach Mucosa	stomach
20	chr9:71384600-71387200	Enhancers	Fetal Intestine Large	intestine

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