Variant report

Variant	rs7729526
Chromosome Location	chr5:61907478-61907479
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	chr5:61905876..61908467-chr5:61910449..61913197,3	K562	blood:

Extended variants
information (count: 101 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10051492	0.88[CEU][hapmap];0.82[MEX][hapmap]
rs10054305	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10058044	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10058598	0.90[CHD][hapmap]
rs10060589	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10065749	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10069745	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10069988	0.90[CHD][hapmap]
rs10071568	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10072795	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12516160	0.88[CEU][hapmap];0.82[MEX][hapmap]
rs12517326	0.90[CHD][hapmap]
rs12521329	0.88[CEU][hapmap];0.82[MEX][hapmap]
rs1301063	0.83[EUR][1000 genomes]
rs1301064	0.85[CHD][hapmap]
rs13167856	0.88[CEU][hapmap]
rs13174978	0.95[CEU][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1477358	0.85[CHD][hapmap]
rs149540	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs152184	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.80[ASN][1000 genomes]
rs152186	0.85[CHD][hapmap]
rs152187	0.84[CEU][hapmap];0.82[MEX][hapmap]
rs152199	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs152202	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs152203	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs152215	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs153857	0.84[CEU][hapmap];0.82[MEX][hapmap]
rs153858	0.84[CEU][hapmap];0.82[MEX][hapmap]
rs153862	0.84[CEU][hapmap];0.82[MEX][hapmap]
rs1541677	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1562244	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs166005	0.81[EUR][1000 genomes]
rs173522	0.84[CEU][hapmap];0.82[MEX][hapmap]
rs181912	0.88[CEU][hapmap];0.82[MEX][hapmap]
rs247229	0.84[CEU][hapmap];0.82[MEX][hapmap]
rs247233	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.81[EUR][1000 genomes]
rs247237	0.85[CHD][hapmap]
rs247240	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];0.86[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap]
rs247244	0.96[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap]
rs247245	0.84[CEU][hapmap];0.82[MEX][hapmap]
rs247247	0.84[CEU][hapmap]
rs247250	0.85[CHD][hapmap]
rs247479	0.85[CHD][hapmap]
rs26624	0.84[CEU][hapmap];0.82[MEX][hapmap]
rs26625	0.84[CEU][hapmap]
rs26628	0.84[CEU][hapmap]
rs26629	0.83[CEU][hapmap]
rs26630	0.84[CEU][hapmap];0.82[MEX][hapmap]
rs26635	0.85[CHD][hapmap]
rs26637	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs26641	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs26642	0.85[CHD][hapmap]
rs26644	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs26645	0.84[CEU][hapmap];0.82[MEX][hapmap]
rs27448	0.85[CHD][hapmap]
rs28539215	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28581963	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28615140	0.81[EUR][1000 genomes]
rs32154	0.88[CEU][hapmap];0.82[MEX][hapmap]
rs32155	0.88[CEU][hapmap];0.82[MEX][hapmap]
rs32161	0.81[CEU][hapmap]
rs32164	0.88[CEU][hapmap];0.82[MEX][hapmap]
rs32171	0.84[CEU][hapmap]
rs32181	0.88[CEU][hapmap];0.82[MEX][hapmap]
rs32186	0.84[CEU][hapmap]
rs32187	0.88[CEU][hapmap];0.82[MEX][hapmap]
rs32188	0.88[CEU][hapmap]
rs34562047	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35010	0.84[CEU][hapmap];0.82[MEX][hapmap]
rs35119	0.85[CHD][hapmap]
rs366238	0.88[CEU][hapmap]
rs3776638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs39923	0.88[CEU][hapmap];0.82[MEX][hapmap]
rs39935	0.88[CEU][hapmap];0.82[MEX][hapmap]
rs4700012	0.88[CEU][hapmap]
rs4700494	0.85[CHD][hapmap]
rs6449601	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6449602	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6881888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6888641	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs767159	0.85[CHD][hapmap]
rs7706610	0.88[CEU][hapmap];0.82[MEX][hapmap]
rs7717128	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7718484	0.88[CEU][hapmap];0.82[MEX][hapmap]
rs7722692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7737525	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs784916	0.85[CHD][hapmap]
rs784921	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap]
rs918606	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv1033578	chr5:61606610-61911153	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv1020713	chr5:61786309-61921150	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv537770	chr5:61786309-61921150	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv881731	chr5:61794164-61941043	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv881732	chr5:61811970-62063366	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
9	nsv881734	chr5:61828147-61921815	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	esv2763458	chr5:61852234-62157166	ZNF genes & repeats Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
11	nsv1022817	chr5:61853619-62149259	Strong transcription Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv948334	chr5:61891622-62197219	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7729526	DIMT1L	cis	cerebellum	SCAN

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61848200-61939600	Weak transcription	Brain Anterior Caudate	brain
2	chr5:61863200-61910200	Weak transcription	Right Ventricle	heart
3	chr5:61864800-61945800	Weak transcription	HSMMtube	muscle
4	chr5:61875000-61922200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr5:61879600-61908800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr5:61881400-61939400	Weak transcription	Spleen	Spleen
7	chr5:61882000-61916400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr5:61882200-61925400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr5:61883400-61925800	Weak transcription	Psoas Muscle	Psoas
10	chr5:61884000-61910200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr5:61886800-61941200	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr5:61887000-61912000	Weak transcription	Brain Angular Gyrus	brain
13	chr5:61887000-61922800	Weak transcription	Skeletal Muscle Female	skeletal muscle
14	chr5:61888800-61910400	Weak transcription	Lung	lung
15	chr5:61888800-61928000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr5:61888800-61937000	Weak transcription	Gastric	stomach
17	chr5:61889200-61923400	Weak transcription	A549	lung
18	chr5:61889400-61907600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:61889600-61925400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:61889600-61929200	Weak transcription	NH-A	brain
21	chr5:61889600-61936200	Weak transcription	Primary B cells from peripheral blood	blood
22	chr5:61891000-61909400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr5:61891000-61910200	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr5:61891000-61910200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:61891000-61910400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr5:61891000-61916600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:61891000-61923200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr5:61891200-61910000	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr5:61891200-61910200	Weak transcription	Fetal Intestine Large	intestine
30	chr5:61893000-61909400	Weak transcription	Osteobl	bone
31	chr5:61893000-61912200	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr5:61893000-61943200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr5:61895200-61910200	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr5:61899200-61912400	Weak transcription	Colonic Mucosa	Colon
35	chr5:61899800-61910200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:61899800-61910200	Weak transcription	Thymus	Thymus
37	chr5:61899800-61923000	Weak transcription	Liver	Liver
38	chr5:61899800-61928200	Weak transcription	Ovary	ovary
39	chr5:61899800-61928400	Weak transcription	Esophagus	oesophagus
40	chr5:61899800-61939600	Weak transcription	Pancreas	Pancrea
41	chr5:61900000-61909600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:61900000-61923400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr5:61900000-61923800	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr5:61900200-61910200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr5:61900200-61910200	Weak transcription	Left Ventricle	heart
46	chr5:61901800-61923000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr5:61902000-61916600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr5:61902000-61922200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr5:61902000-61922600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr5:61902000-61934200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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