Variant report

Variant	rs7733401
Chromosome Location	chr5:147833281-147833282
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10035818	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs10041283	0.95[CEU][hapmap];0.92[TSI][hapmap]
rs10042369	0.84[EUR][1000 genomes]
rs10043775	0.95[CEU][hapmap];0.92[TSI][hapmap];0.84[EUR][1000 genomes]
rs10044061	0.95[CEU][hapmap]
rs10051223	1.00[CEU][hapmap];0.90[GIH][hapmap];0.80[MEX][hapmap];0.97[TSI][hapmap];0.98[EUR][1000 genomes]
rs10055332	0.89[EUR][1000 genomes]
rs10055430	0.94[ASW][hapmap];1.00[CEU][hapmap];0.90[GIH][hapmap];0.84[MEX][hapmap];0.94[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10056586	0.87[EUR][1000 genomes]
rs10060753	0.81[CEU][hapmap]
rs10068216	0.95[CEU][hapmap];0.92[TSI][hapmap]
rs10072051	0.95[CEU][hapmap]
rs10077690	0.81[CEU][hapmap]
rs10079420	0.94[EUR][1000 genomes]
rs10477376	0.95[CEU][hapmap];0.92[TSI][hapmap]
rs11168046	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs11168047	0.94[EUR][1000 genomes]
rs1128450	0.97[EUR][1000 genomes]
rs12513547	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs12717973	0.81[CEU][hapmap]
rs12717974	0.84[EUR][1000 genomes]
rs13174567	0.85[EUR][1000 genomes]
rs1345741	0.86[CEU][hapmap];0.90[GIH][hapmap];0.82[TSI][hapmap]
rs17108251	0.95[CEU][hapmap];0.92[TSI][hapmap]
rs17720155	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs17776882	1.00[CEU][hapmap];0.90[GIH][hapmap];0.80[MEX][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs17777066	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1971431	0.88[EUR][1000 genomes]
rs1984789	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs2037997	0.93[EUR][1000 genomes]
rs2112761	1.00[CEU][hapmap];0.88[GIH][hapmap];0.80[MEX][hapmap];0.94[TSI][hapmap];0.86[EUR][1000 genomes]
rs2400509	0.82[JPT][hapmap]
rs2400510	0.82[JPT][hapmap]
rs28617172	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34269182	0.87[EUR][1000 genomes]
rs3734120	0.95[CEU][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes]
rs3734121	0.98[EUR][1000 genomes]
rs3749690	0.82[JPT][hapmap]
rs3925019	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4274967	0.87[EUR][1000 genomes]
rs4274968	0.87[EUR][1000 genomes]
rs4349707	0.95[CEU][hapmap]
rs4472255	0.87[EUR][1000 genomes]
rs4574533	0.87[EUR][1000 genomes]
rs4599524	1.00[CEU][hapmap];0.90[GIH][hapmap];0.94[TSI][hapmap];0.89[EUR][1000 genomes]
rs4599526	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs4639213	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs4705247	0.86[CEU][hapmap];0.90[GIH][hapmap];0.82[TSI][hapmap]
rs4705253	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs60625004	0.87[EUR][1000 genomes]
rs6861078	1.00[CEU][hapmap];0.90[GIH][hapmap];0.80[MEX][hapmap];0.94[TSI][hapmap];0.95[EUR][1000 genomes]
rs6884076	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs7700502	0.84[EUR][1000 genomes]
rs7713927	0.99[EUR][1000 genomes]
rs7727161	0.88[EUR][1000 genomes]
rs7727320	0.99[EUR][1000 genomes]
rs7728004	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7734458	0.82[JPT][hapmap]
rs7736019	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9325095	0.95[CEU][hapmap];0.92[TSI][hapmap]
rs9325096	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs9325097	0.94[CEU][hapmap];0.87[EUR][1000 genomes]
rs9325098	0.95[CEU][hapmap];0.94[TSI][hapmap];0.87[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830516	chr5:147801104-147966093	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7733401	ABLIM3	cis	cerebellum	SCAN
rs7733401	SPINK9	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147807600-147833600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr5:147807600-147833600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr5:147807600-147834000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:147808000-147835400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:147817000-147834200	Weak transcription	Gastric	stomach
6	chr5:147822400-147833600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:147822400-147834000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr5:147822400-147839200	Weak transcription	Stomach Smooth Muscle	stomach
9	chr5:147823000-147834400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:147823200-147833600	Weak transcription	Brain Germinal Matrix	brain
11	chr5:147823400-147834600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr5:147824200-147835000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr5:147826600-147834200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:147826800-147833400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr5:147826800-147834200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr5:147831800-147837000	Enhancers	Fetal Heart	heart
17	chr5:147832400-147833400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr5:147832400-147833400	Enhancers	Left Ventricle	heart
19	chr5:147832400-147837000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr5:147832800-147833800	Enhancers	Right Ventricle	heart
21	chr5:147832800-147834400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:147833000-147833400	Enhancers	Right Atrium	heart
23	chr5:147833200-147833600	Weak transcription	Duodenum Mucosa	Duodenum
24	chr5:147833200-147834600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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