Variant report

Variant	rs10512664
Chromosome Location	chr5:37158123-37158124
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 66 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10042473	0.85[EUR][1000 genomes]
rs10061157	0.86[CHB][hapmap];0.80[CHD][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10073054	0.84[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs10461974	0.86[AFR][1000 genomes]
rs10461978	0.85[EUR][1000 genomes]
rs125682	0.90[CHB][hapmap];0.88[JPT][hapmap]
rs12652735	0.81[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12652882	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12658479	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13154730	0.85[EUR][1000 genomes]
rs13160521	0.93[MEX][hapmap]
rs13163937	0.86[EUR][1000 genomes]
rs13165088	0.93[MEX][hapmap];0.85[TSI][hapmap]
rs13166067	0.85[EUR][1000 genomes]
rs13166829	0.93[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs13166974	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13169211	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13171061	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13171414	0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs13171526	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13176996	0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs13177573	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13177875	0.87[AFR][1000 genomes]
rs13179402	0.86[EUR][1000 genomes]
rs13181187	0.93[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs13184464	1.00[CEU][hapmap];0.86[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13188136	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13189308	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs16903531	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2098713	0.91[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs2366273	0.84[EUR][1000 genomes]
rs294695	1.00[YRI][hapmap]
rs301863	0.82[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs301867	0.86[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs301869	0.91[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs301872	0.86[ASN][1000 genomes]
rs301873	0.81[ASN][1000 genomes]
rs301905	0.82[ASN][1000 genomes]
rs301906	0.82[ASN][1000 genomes]
rs34525350	0.93[AFR][1000 genomes]
rs35151340	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59398009	0.93[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs61748200	0.93[AFR][1000 genomes]
rs6451313	0.82[ASN][1000 genomes]
rs6860727	0.91[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs6879284	0.87[EUR][1000 genomes]
rs6887958	0.86[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs7711452	0.91[CHB][hapmap];0.82[CHD][hapmap];1.00[JPT][hapmap]
rs9632396	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9637791	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	esv1802391	chr5:36958598-37242600	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv534064	chr5:37054962-37586210	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers 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 miRNA target site	44 gene(s)	inside rSNPs	diseases
9	nsv881511	chr5:37088627-37552852	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv597823	chr5:37111565-37430365	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
11	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
12	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv1025988	chr5:37115142-37586211	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
14	nsv537727	chr5:37115142-37586211	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
15	nsv830265	chr5:37152221-37312233	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv530227	chr5:37157106-37571999	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs10512664	UGT3A2	cis	cerebellum	SCAN
rs10512664	WDR70	cis	cerebellum	SCAN

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37082800-37169200	Weak transcription	Spleen	Spleen
2	chr5:37112200-37198200	Weak transcription	Small Intestine	intestine
3	chr5:37113600-37222200	Weak transcription	Psoas Muscle	Psoas
4	chr5:37114600-37165400	Weak transcription	HMEC	breast
5	chr5:37133200-37169400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:37134200-37171200	Weak transcription	Colonic Mucosa	Colon
7	chr5:37136200-37197200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr5:37136800-37170000	Weak transcription	Esophagus	oesophagus
9	chr5:37137400-37174000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr5:37137600-37169000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr5:37138400-37196800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:37138600-37179600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr5:37143400-37189600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:37143800-37169200	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr5:37144400-37171400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr5:37145600-37158800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr5:37146400-37174000	Weak transcription	GM12878-XiMat	blood
18	chr5:37147200-37158600	Strong transcription	Dnd41	blood
19	chr5:37147200-37200600	Strong transcription	HSMM	muscle
20	chr5:37147400-37158600	Strong transcription	Adipose Nuclei	Adipose
21	chr5:37147600-37158400	Strong transcription	Stomach Smooth Muscle	stomach
22	chr5:37147800-37158600	Strong transcription	Fetal Lung	lung
23	chr5:37148000-37182000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:37148600-37158600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:37148600-37189400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:37148800-37158800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:37149200-37158600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr5:37149200-37164200	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr5:37149600-37159000	Strong transcription	Hela-S3	cervix
30	chr5:37149600-37160200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr5:37149800-37158200	Strong transcription	Brain Hippocampus Middle	brain
32	chr5:37150200-37158400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:37150200-37158600	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr5:37150200-37158600	Strong transcription	Left Ventricle	heart
35	chr5:37150400-37158400	Strong transcription	Osteobl	bone
36	chr5:37150600-37158400	Strong transcription	Skeletal Muscle Male	skeletal muscle
37	chr5:37150600-37176400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:37150800-37158200	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr5:37151600-37158600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr5:37151600-37165400	Weak transcription	A549	lung
41	chr5:37151600-37168600	Weak transcription	Fetal Heart	heart
42	chr5:37151600-37168800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr5:37151600-37197400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr5:37152000-37158200	Strong transcription	Fetal Thymus	thymus
45	chr5:37152000-37161400	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr5:37152200-37168800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr5:37152200-37169000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr5:37152800-37160200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr5:37153000-37170600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:37154000-37166000	Weak transcription	HepG2	liver

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