Variant report

Variant	rs2037997
Chromosome Location	chr5:147835912-147835913
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:147828231..147830520-chr5:147834285..147837059,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10035818	1.00[CEU][hapmap];0.89[CHB][hapmap];0.84[YRI][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10041283	0.95[CEU][hapmap];0.86[TSI][hapmap]
rs10043775	0.95[CEU][hapmap];0.86[TSI][hapmap]
rs10044061	0.95[CEU][hapmap]
rs10050560	0.81[CHB][hapmap]
rs10051223	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];0.91[MEX][hapmap];0.92[TSI][hapmap];0.84[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10055332	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10055430	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];0.87[MEX][hapmap];0.89[TSI][hapmap];0.86[EUR][1000 genomes]
rs10056586	0.81[EUR][1000 genomes]
rs10060753	0.81[CEU][hapmap]
rs10068216	0.95[CEU][hapmap];0.86[TSI][hapmap]
rs10072051	0.95[CEU][hapmap]
rs10077690	0.81[CEU][hapmap]
rs10079420	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10477376	0.95[CEU][hapmap];0.86[TSI][hapmap]
rs11168046	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11168047	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1128450	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12513547	0.95[CEU][hapmap];0.80[EUR][1000 genomes]
rs12717973	0.81[CEU][hapmap]
rs1345741	0.86[CEU][hapmap];0.87[MEX][hapmap]
rs1363707	0.81[CHB][hapmap]
rs1422976	0.81[CHB][hapmap]
rs17108251	0.95[CEU][hapmap];0.86[TSI][hapmap]
rs17719763	0.81[CHB][hapmap]
rs17720155	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17776882	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17777066	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1971431	0.82[EUR][1000 genomes]
rs1984789	1.00[CEU][hapmap];0.91[CHB][hapmap];0.84[YRI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2112761	1.00[CEU][hapmap];0.81[CHB][hapmap];0.84[CHD][hapmap];0.81[GIH][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.84[YRI][hapmap];0.82[EUR][1000 genomes]
rs28617172	0.95[EUR][1000 genomes]
rs34269182	0.81[EUR][1000 genomes]
rs3734120	0.95[CEU][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs3734121	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3749689	0.81[CHB][hapmap]
rs3925019	1.00[CEU][hapmap];0.86[CHB][hapmap];0.83[EUR][1000 genomes]
rs4274967	0.81[EUR][1000 genomes]
rs4274968	0.81[EUR][1000 genomes]
rs4349707	0.95[CEU][hapmap]
rs4472255	0.81[EUR][1000 genomes]
rs4574533	0.81[EUR][1000 genomes]
rs4599524	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4599526	1.00[CEU][hapmap];0.85[CHB][hapmap];0.87[YRI][hapmap];0.83[EUR][1000 genomes]
rs4639213	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4705247	0.86[CEU][hapmap];0.81[CHB][hapmap];0.87[MEX][hapmap]
rs4705249	0.81[CHB][hapmap]
rs4705253	1.00[CEU][hapmap];0.84[YRI][hapmap];0.83[EUR][1000 genomes]
rs60625004	0.81[EUR][1000 genomes]
rs6580545	0.80[CHB][hapmap];0.83[MEX][hapmap]
rs6580546	0.81[CHB][hapmap]
rs6861078	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[CHD][hapmap];0.83[GIH][hapmap];0.91[MEX][hapmap];0.89[TSI][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6884076	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs6892647	0.81[CHB][hapmap]
rs7713927	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7727161	0.82[EUR][1000 genomes]
rs7727320	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7728004	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7733401	0.93[EUR][1000 genomes]
rs7736019	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[EUR][1000 genomes]
rs9325095	0.95[CEU][hapmap];0.86[TSI][hapmap]
rs9325096	1.00[CEU][hapmap];0.86[CHB][hapmap];0.84[YRI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9325097	0.94[CEU][hapmap];0.81[EUR][1000 genomes]
rs9325098	0.95[CEU][hapmap];0.89[TSI][hapmap];0.81[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:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2037997	ABLIM3	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147822400-147839200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr5:147831800-147837000	Enhancers	Fetal Heart	heart
3	chr5:147832400-147837000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr5:147833600-147836800	Enhancers	Brain Germinal Matrix	brain
5	chr5:147834600-147836200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:147835200-147836000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr5:147835200-147836400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr5:147835200-147836600	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr5:147835200-147836600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr5:147835200-147836800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr5:147835400-147836600	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr5:147835600-147836000	Enhancers	Right Atrium	heart
13	chr5:147835600-147836600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:147835600-147838000	Weak transcription	Left Ventricle	heart
15	chr5:147835800-147845000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr5:147835800-147848000	Weak transcription	Right Ventricle	heart

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