Variant report

Variant	rs10058044
Chromosome Location	chr5:61853237-61853238
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 106 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10051492	0.88[CEU][hapmap]
rs10054305	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10060589	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10065749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10069745	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10071568	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10072795	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12516160	0.88[CEU][hapmap]
rs12521329	0.88[CEU][hapmap]
rs1301063	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13167856	0.85[CEU][hapmap]
rs13174978	0.96[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs149540	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs152184	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs152187	0.84[CEU][hapmap]
rs152191	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[ASN][1000 genomes]
rs152192	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap]
rs152199	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs152202	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs152203	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs152208	0.85[ASN][1000 genomes]
rs152209	0.83[ASN][1000 genomes]
rs152215	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs153857	0.84[CEU][hapmap]
rs153858	0.84[CEU][hapmap]
rs153862	0.84[CEU][hapmap]
rs1541677	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1562244	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs166005	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs173522	0.84[CEU][hapmap]
rs173523	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs181912	0.88[CEU][hapmap]
rs247229	0.84[CEU][hapmap]
rs247233	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs247240	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.84[ASN][1000 genomes]
rs247244	0.96[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[ASN][1000 genomes]
rs247245	0.84[CEU][hapmap]
rs247247	0.81[CEU][hapmap]
rs247248	0.84[ASN][1000 genomes]
rs247265	0.92[CEU][hapmap];0.91[CHB][hapmap]
rs247270	0.92[CEU][hapmap];0.86[CHB][hapmap]
rs26624	0.84[CEU][hapmap]
rs26625	0.82[CEU][hapmap]
rs26628	0.82[CEU][hapmap]
rs26629	0.80[CEU][hapmap]
rs26630	0.84[CEU][hapmap]
rs26631	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs26632	0.86[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs26637	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs26641	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs26644	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs26645	0.84[CEU][hapmap]
rs27542	0.84[CEU][hapmap]
rs27693	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.83[ASN][1000 genomes]
rs28539215	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28581963	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28615140	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs32052	0.96[YRI][hapmap];0.85[AFR][1000 genomes]
rs32154	0.88[CEU][hapmap]
rs32155	0.88[CEU][hapmap]
rs32161	0.81[CEU][hapmap]
rs32164	0.88[CEU][hapmap]
rs32171	0.84[CEU][hapmap]
rs32181	0.88[CEU][hapmap]
rs32186	0.82[CEU][hapmap]
rs32187	0.88[CEU][hapmap]
rs32188	0.85[CEU][hapmap]
rs34562047	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35010	0.84[CEU][hapmap]
rs35059	0.84[CEU][hapmap]
rs366238	0.85[CEU][hapmap]
rs3776638	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs39923	0.88[CEU][hapmap]
rs39935	0.88[CEU][hapmap]
rs40110	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4700012	0.85[CEU][hapmap]
rs6449601	0.82[EUR][1000 genomes]
rs6449602	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6881888	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6888641	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7706610	0.88[CEU][hapmap]
rs7717128	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7718484	0.88[CEU][hapmap]
rs7722692	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7729526	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7737525	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs784921	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs918606	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv1029708	chr5:61625813-61877628	Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv881728	chr5:61630879-61857577	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
7	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
8	nsv881729	chr5:61719506-61857577	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv881730	chr5:61750667-61883581	Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	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
11	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
12	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
13	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
14	nsv881733	chr5:61828147-61877628	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats 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
15	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
16	nsv881735	chr5:61831283-61877628	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers 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
17	nsv881736	chr5:61833440-61877628	Enhancers Weak transcription Strong 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
18	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

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61739200-61862800	Weak transcription	Brain Substantia Nigra	brain
2	chr5:61748000-61862800	Weak transcription	Right Ventricle	heart
3	chr5:61758800-61890000	Weak transcription	Small Intestine	intestine
4	chr5:61764000-61858200	Weak transcription	Placenta	Placenta
5	chr5:61764200-61895800	Weak transcription	Pancreas	Pancrea
6	chr5:61771200-61864800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr5:61771400-61863000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr5:61781600-61867600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr5:61787400-61866800	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:61793600-61905000	Weak transcription	NHEK	skin
11	chr5:61796600-61866600	Weak transcription	Osteobl	bone
12	chr5:61796800-61899000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr5:61797000-61861200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr5:61802600-61889000	Weak transcription	NH-A	brain
15	chr5:61803000-61904400	Weak transcription	Fetal Kidney	kidney
16	chr5:61803200-61875000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr5:61803400-61855000	Weak transcription	HSMM	muscle
18	chr5:61803400-61863600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr5:61804400-61865200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr5:61806800-61863400	Weak transcription	Lung	lung
21	chr5:61812200-61865200	Weak transcription	HUVEC	blood vessel
22	chr5:61815000-61861400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:61815200-61890600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr5:61816000-61857800	Weak transcription	Fetal Stomach	stomach
25	chr5:61816200-61862200	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr5:61819200-61860400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr5:61819800-61861600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:61821400-61863400	Weak transcription	Aorta	Aorta
29	chr5:61823200-61856000	Weak transcription	Fetal Heart	heart
30	chr5:61827200-61856000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:61827200-61858200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr5:61827200-61861200	Weak transcription	Liver	Liver
33	chr5:61827200-61883600	Weak transcription	HepG2	liver
34	chr5:61827400-61862800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr5:61827400-61899200	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr5:61827600-61856000	Weak transcription	Fetal Thymus	thymus
37	chr5:61828200-61854800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr5:61828200-61855800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr5:61828200-61861600	Weak transcription	Brain Hippocampus Middle	brain
40	chr5:61828200-61862800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr5:61828200-61864400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr5:61828200-61886800	Weak transcription	Duodenum Mucosa	Duodenum
43	chr5:61828600-61855000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr5:61828600-61858000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr5:61828600-61861600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:61829000-61855000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr5:61830400-61856000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:61831400-61871800	Weak transcription	Psoas Muscle	Psoas
49	chr5:61834200-61861400	Weak transcription	GM12878-XiMat	blood
50	chr5:61834800-61854800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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