Variant report

Variant	rs1477358
Chromosome Location	chr5:61891622-61891623
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10058598	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10060044	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10060243	0.89[EUR][1000 genomes]
rs10069594	0.96[CEU][hapmap];1.00[CHB][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10069988	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10077586	0.80[AMR][1000 genomes]
rs10079618	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs101091	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[YRI][hapmap];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12517326	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1301064	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1301065	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs149540	0.85[CHD][hapmap]
rs152184	0.85[CHD][hapmap]
rs152186	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs152191	0.85[CHD][hapmap]
rs152192	0.85[CHD][hapmap]
rs152199	0.85[CHD][hapmap]
rs152204	0.81[AMR][1000 genomes]
rs152205	0.80[AMR][1000 genomes]
rs152215	0.85[CHD][hapmap]
rs1562244	0.85[CHD][hapmap]
rs16890800	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2112983	0.90[EUR][1000 genomes]
rs2112984	0.90[EUR][1000 genomes]
rs247231	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.95[YRI][hapmap];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs247232	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs247233	0.81[CHD][hapmap]
rs247237	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];0.89[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs247240	0.85[CHD][hapmap]
rs247244	0.83[CHD][hapmap]
rs247250	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.80[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs247251	0.96[CEU][hapmap];0.80[AMR][1000 genomes]
rs247264	0.88[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.82[YRI][hapmap]
rs247479	0.87[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs26635	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs26637	0.85[CHD][hapmap]
rs26639	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs26642	0.81[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs27448	0.81[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];0.98[GIH][hapmap];0.83[JPT][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs27449	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs27693	0.85[CHD][hapmap]
rs27931	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs32163	0.82[CEU][hapmap]
rs35119	0.81[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.95[TSI][hapmap];0.95[YRI][hapmap];0.85[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs35202928	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3776638	0.85[CHD][hapmap]
rs4700494	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57199871	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6881888	0.85[CHD][hapmap]
rs767159	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7717128	0.85[CHD][hapmap]
rs7717143	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7719851	0.90[EUR][1000 genomes]
rs7722692	0.85[CHD][hapmap]
rs7729526	0.85[CHD][hapmap]
rs7737525	0.85[CHD][hapmap]
rs784916	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.96[MEX][hapmap];0.84[MKK][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs784918	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs9632387	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv598348	chr5:61650843-61895124	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Active TSS 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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
rs1477358	DIMT1L	cis	cerebellum	SCAN

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61764200-61895800	Weak transcription	Pancreas	Pancrea
2	chr5:61793600-61905000	Weak transcription	NHEK	skin
3	chr5:61796800-61899000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr5:61803000-61904400	Weak transcription	Fetal Kidney	kidney
5	chr5:61827400-61899200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr5:61834800-61899200	Weak transcription	Esophagus	oesophagus
7	chr5:61848200-61939600	Weak transcription	Brain Anterior Caudate	brain
8	chr5:61856400-61906400	Weak transcription	Colon Smooth Muscle	Colon
9	chr5:61861400-61902600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr5:61862200-61902600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:61863200-61910200	Weak transcription	Right Ventricle	heart
12	chr5:61864200-61899200	Weak transcription	Thymus	Thymus
13	chr5:61864800-61945800	Weak transcription	HSMMtube	muscle
14	chr5:61875000-61906600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr5:61875000-61922200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr5:61875400-61893200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr5:61876200-61904400	Weak transcription	Fetal Muscle Leg	muscle
18	chr5:61879600-61908800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr5:61881400-61939400	Weak transcription	Spleen	Spleen
20	chr5:61881800-61892600	Weak transcription	NHLF	lung
21	chr5:61881800-61901200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr5:61881800-61905200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:61882000-61916400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr5:61882200-61902600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr5:61882200-61925400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr5:61883400-61925800	Weak transcription	Psoas Muscle	Psoas
27	chr5:61884000-61910200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr5:61885400-61896200	Weak transcription	HepG2	liver
29	chr5:61885800-61904400	Weak transcription	Brain Hippocampus Middle	brain
30	chr5:61886000-61891800	Weak transcription	Fetal Brain Female	brain
31	chr5:61886800-61941200	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr5:61887000-61912000	Weak transcription	Brain Angular Gyrus	brain
33	chr5:61887000-61922800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr5:61887400-61903800	Weak transcription	Placenta	Placenta
35	chr5:61888000-61899400	Weak transcription	Fetal Lung	lung
36	chr5:61888200-61898400	Weak transcription	Liver	Liver
37	chr5:61888600-61901000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr5:61888800-61898800	Weak transcription	Hela-S3	cervix
39	chr5:61888800-61899000	Weak transcription	Ovary	ovary
40	chr5:61888800-61899200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr5:61888800-61899200	Weak transcription	Fetal Stomach	stomach
42	chr5:61888800-61899400	Weak transcription	Aorta	Aorta
43	chr5:61888800-61901600	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr5:61888800-61904800	Weak transcription	Fetal Intestine Small	intestine
45	chr5:61888800-61905000	Weak transcription	GM12878-XiMat	blood
46	chr5:61888800-61905600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr5:61888800-61910400	Weak transcription	Lung	lung
48	chr5:61888800-61928000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr5:61888800-61937000	Weak transcription	Gastric	stomach
50	chr5:61889000-61898400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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