Variant report

Variant	rs12516552
Chromosome Location	chr5:60177527-60177528
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 72 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10071281	1.00[ASN][1000 genomes]
rs12153228	1.00[ASN][1000 genomes]
rs12519764	1.00[ASN][1000 genomes]
rs12519810	1.00[ASN][1000 genomes]
rs12520484	1.00[ASN][1000 genomes]
rs13162920	0.80[EUR][1000 genomes]
rs1316649	1.00[ASN][1000 genomes]
rs13184350	1.00[ASN][1000 genomes]
rs13187930	1.00[ASN][1000 genomes]
rs158701	1.00[ASN][1000 genomes]
rs158702	1.00[ASN][1000 genomes]
rs17331746	0.88[EUR][1000 genomes]
rs17332419	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2059064	1.00[ASN][1000 genomes]
rs2080870	1.00[ASN][1000 genomes]
rs248686	1.00[ASN][1000 genomes]
rs34089429	1.00[ASN][1000 genomes]
rs34099891	1.00[ASN][1000 genomes]
rs34155831	1.00[ASN][1000 genomes]
rs34279961	1.00[ASN][1000 genomes]
rs34596	1.00[ASN][1000 genomes]
rs34676209	1.00[ASN][1000 genomes]
rs34784445	1.00[ASN][1000 genomes]
rs35078341	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35453042	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35957723	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4647028	1.00[ASN][1000 genomes]
rs4647066	1.00[ASN][1000 genomes]
rs4647100	1.00[ASN][1000 genomes]
rs4647113	1.00[ASN][1000 genomes]
rs4647167	1.00[ASN][1000 genomes]
rs4647171	1.00[ASN][1000 genomes]
rs59521186	1.00[ASN][1000 genomes]
rs62365459	1.00[ASN][1000 genomes]
rs62367880	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62367886	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62367887	1.00[ASN][1000 genomes]
rs62370483	1.00[ASN][1000 genomes]
rs62372074	0.88[EUR][1000 genomes]
rs62372142	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6893752	1.00[ASN][1000 genomes]
rs71630091	1.00[ASN][1000 genomes]
rs7726671	1.00[ASN][1000 genomes]
rs9291706	1.00[ASN][1000 genomes]
rs966497	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9763225	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492277	chr5:59905195-60180834	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv934153	chr5:60004982-60309751	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv949662	chr5:60047974-60488379	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
4	nsv1017095	chr5:60050600-60414783	Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
5	nsv933326	chr5:60074031-60413061	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv881712	chr5:60116613-60266875	Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv881713	chr5:60116613-60305125	Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv598305	chr5:60116613-60308836	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv881714	chr5:60116613-60313015	Bivalent Enhancer Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
10	nsv881715	chr5:60116613-60356423	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv598306	chr5:60129361-60266875	Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
12	nsv598307	chr5:60129361-60308836	Strong transcription Weak transcription ZNF genes & repeats Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
13	nsv881716	chr5:60129361-60313015	Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
14	nsv462199	chr5:60129361-60329624	Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv598308	chr5:60129361-60329624	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv462200	chr5:60135985-60266875	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv598309	chr5:60135985-60266875	Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	nsv598310	chr5:60135985-60308836	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
19	nsv598311	chr5:60136626-60308836	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	nsv520871	chr5:60141245-60320157	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
21	nsv881717	chr5:60141245-60372582	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
22	nsv598312	chr5:60147754-60313015	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
23	nsv881718	chr5:60147754-60313015	Weak transcription ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
24	esv2762523	chr5:60166108-60229718	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
25	nsv881719	chr5:60167888-60241826	Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
26	esv1818312	chr5:60169859-60200993	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12516552	ELOVL7	Cis_1M	lymphoblastoid	RTeQTL
rs12516552	ERCC8	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60167200-60192600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr5:60167400-60186000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:60167800-60182000	Weak transcription	Left Ventricle	heart
4	chr5:60167800-60187800	Weak transcription	Primary T cells from cord blood	blood
5	chr5:60167800-60188400	Weak transcription	Liver	Liver
6	chr5:60167800-60192800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr5:60167800-60228200	Weak transcription	Psoas Muscle	Psoas
8	chr5:60168400-60191000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr5:60169000-60185800	Weak transcription	Adipose Nuclei	Adipose
10	chr5:60169800-60191000	Weak transcription	NH-A	brain
11	chr5:60175200-60188400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr5:60175200-60188400	Weak transcription	Right Ventricle	heart
13	chr5:60175800-60188200	Weak transcription	Gastric	stomach
14	chr5:60175800-60188200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:60175800-60239400	Weak transcription	NHEK	skin
16	chr5:60176400-60220400	Weak transcription	Esophagus	oesophagus
17	chr5:60176600-60178000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
18	chr5:60176600-60178200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr5:60176600-60179600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
20	chr5:60176600-60188000	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr5:60176800-60178000	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr5:60176800-60180000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:60176800-60188200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:60177000-60178000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr5:60177000-60178400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
26	chr5:60177000-60178600	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr5:60177000-60178600	ZNF genes & repeats	Fetal Stomach	stomach
28	chr5:60177000-60190400	Weak transcription	HSMM	muscle
29	chr5:60177200-60178400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:60177200-60179200	Weak transcription	Fetal Lung	lung
31	chr5:60177200-60188800	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr5:60177200-60189800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr5:60177200-60239600	Weak transcription	HSMMtube	muscle
34	chr5:60177400-60178000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr5:60177400-60180800	Weak transcription	Ovary	ovary
36	chr5:60177400-60188200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr5:60177400-60188600	Weak transcription	A549	lung
38	chr5:60177400-60188800	Weak transcription	Primary B cells from cord blood	blood
39	chr5:60177400-60188800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:60177400-60192600	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr5:60177400-60232800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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