Variant report

Variant	rs10735625
Chromosome Location	chr9:71370174-71370175
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:71370018..71372920-chr9:71376238..71377974,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10511965	0.83[CEU][hapmap];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10746925	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12345874	0.94[CEU][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12350270	0.87[MEX][hapmap]
rs1336492	0.88[CEU][hapmap];0.83[GIH][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs1537885	0.92[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.84[MEX][hapmap];0.86[MKK][hapmap];0.91[TSI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17391162	1.00[CHB][hapmap];0.93[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.88[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17391596	0.83[TSI][hapmap];0.82[AMR][1000 genomes]
rs17482181	0.92[ASW][hapmap];0.83[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.88[MEX][hapmap];0.93[MKK][hapmap];0.81[TSI][hapmap];0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58220469	0.86[ASN][1000 genomes]
rs58384767	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59031138	0.86[ASN][1000 genomes]
rs59550441	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61221055	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs66460517	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs67047473	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67457572	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7018552	0.83[CEU][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7031263	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]
rs7044460	0.83[CEU][hapmap];0.94[CHB][hapmap];0.85[JPT][hapmap];0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7049222	0.95[CEU][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs72717927	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs72717935	0.81[AMR][1000 genomes]
rs7853795	0.81[CEU][hapmap];0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8114	0.84[CHB][hapmap]
rs945575	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs950785	0.94[CHB][hapmap];0.92[JPT][hapmap];0.86[ASN][1000 genomes]
rs952590	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs972059	0.80[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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10735625	SMC5	cis	cerebellum	SCAN
rs10735625	PIP5K1B	cis	Artery Tibial	GTEx

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71351000-71370600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:71360000-71370600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr9:71360200-71370600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:71362200-71370600	Weak transcription	Left Ventricle	heart
5	chr9:71365000-71370200	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr9:71365000-71372800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr9:71365400-71370600	Weak transcription	Right Ventricle	heart
8	chr9:71366000-71372800	Weak transcription	Primary B cells from cord blood	blood
9	chr9:71366200-71370400	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr9:71366400-71370400	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr9:71366400-71370400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr9:71366400-71370600	Weak transcription	Fetal Intestine Small	intestine
13	chr9:71366400-71373400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr9:71366600-71370600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr9:71366800-71370400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr9:71367200-71370200	Weak transcription	Stomach Mucosa	stomach
17	chr9:71367200-71370800	Weak transcription	Brain Germinal Matrix	brain
18	chr9:71369800-71370200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:71369800-71370400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr9:71369800-71371000	Enhancers	Fetal Heart	heart
21	chr9:71370000-71370600	Enhancers	Duodenum Mucosa	Duodenum
22	chr9:71370000-71371000	Enhancers	Fetal Intestine Large	intestine
23	chr9:71370000-71371000	Enhancers	Placenta Amnion	Placenta Amnion
24	chr9:71370000-71371400	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr9:71370000-71371400	Flanking Active TSS	HepG2	liver
26	chr9:71370000-71371400	Enhancers	K562	blood
27	chr9:71370000-71372000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell

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