Variant report

Variant	rs12517210
Chromosome Location	chr5:40764440-40764441
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:40762484..40765387-chr5:40833487..40838148,4	K562	blood:
2	chr5:40761961..40764811-chr5:40832028..40833924,2	MCF-7	breast:
3	chr5:40760388..40764938-chr5:40832988..40836769,5	MCF-7	breast:
4	chr5:40759710..40764703-chr5:40796509..40801670,5	K562	blood:

Variant related genes	Relation type
ENSG00000212296	Chromatin interaction
ENSG00000132356	Chromatin interaction
ENSG00000145592	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10035235	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.95[ASN][1000 genomes]
rs10053664	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10062565	0.90[JPT][hapmap]
rs10066459	0.91[GIH][hapmap];0.94[JPT][hapmap];0.82[TSI][hapmap]
rs10069737	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap]
rs1015027	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap]
rs10941525	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.94[JPT][hapmap];0.96[MEX][hapmap];1.00[TSI][hapmap]
rs11747210	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap]
rs12514352	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12520058	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12523329	1.00[CHB][hapmap];0.95[CHD][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.96[ASN][1000 genomes]
rs1363847	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs2270625	0.90[JPT][hapmap]
rs2291782	0.90[JPT][hapmap]
rs3792824	0.96[ASN][1000 genomes]
rs3792827	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3805489	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs3805490	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.84[MEX][hapmap];0.95[ASN][1000 genomes]
rs3805492	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3805494	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs3805499	1.00[CHB][hapmap];0.94[JPT][hapmap]
rs3816959	0.89[JPT][hapmap]
rs4957334	0.94[JPT][hapmap]
rs4957350	0.95[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62357564	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6868112	0.93[ASW][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];0.91[LWK][hapmap];0.88[MEX][hapmap];0.90[MKK][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes]
rs7719692	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7721093	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7725810	0.87[ASW][hapmap];0.84[GIH][hapmap];0.90[JPT][hapmap];0.84[LWK][hapmap];0.83[YRI][hapmap]
rs9800106	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881377	chr5:40753877-40810426	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv881070	chr5:40753877-40827307	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv880438	chr5:40753877-40900717	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	160 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12517210	RPL37	Cis_1M	lymphoblastoid	RTeQTL
rs12517210	OXCT1	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:40756000-40776000	Weak transcription	Aorta	Aorta
2	chr5:40756000-40780600	Weak transcription	Spleen	Spleen
3	chr5:40756200-40766800	Weak transcription	Small Intestine	intestine
4	chr5:40756200-40775200	Weak transcription	Stomach Mucosa	stomach
5	chr5:40756200-40797200	Weak transcription	Gastric	stomach
6	chr5:40756400-40764600	Weak transcription	Fetal Lung	lung
7	chr5:40756400-40773800	Weak transcription	Lung	lung
8	chr5:40756400-40775000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:40756400-40776200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:40756400-40776400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:40756400-40776800	Weak transcription	Psoas Muscle	Psoas
12	chr5:40756400-40780600	Weak transcription	Esophagus	oesophagus
13	chr5:40756400-40785200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr5:40756400-40797400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:40756600-40764600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr5:40756600-40764600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr5:40756600-40764600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr5:40756600-40764600	Weak transcription	Right Ventricle	heart
19	chr5:40756600-40766400	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:40756600-40766800	Weak transcription	Brain Germinal Matrix	brain
21	chr5:40756600-40766800	Weak transcription	Left Ventricle	heart
22	chr5:40756600-40767600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:40756600-40770200	Weak transcription	Fetal Intestine Small	intestine
24	chr5:40756600-40775800	Weak transcription	Fetal Heart	heart
25	chr5:40756600-40776000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:40756600-40780600	Weak transcription	Pancreas	Pancrea
27	chr5:40756600-40781200	Weak transcription	Fetal Brain Male	brain
28	chr5:40757200-40777200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:40757400-40768600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:40757600-40773600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr5:40758200-40777000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr5:40758400-40777800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr5:40758800-40767800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr5:40759000-40776200	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr5:40759400-40777000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr5:40759400-40777200	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr5:40759600-40767800	Strong transcription	Primary hematopoietic stem cells	blood
38	chr5:40759600-40776000	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr5:40759800-40768200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:40759800-40769800	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr5:40759800-40776000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr5:40760000-40777600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr5:40760400-40776200	Strong transcription	Osteobl	bone
44	chr5:40760600-40769800	Strong transcription	Dnd41	blood
45	chr5:40760600-40770000	Strong transcription	Hela-S3	cervix
46	chr5:40760600-40776000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr5:40760600-40777600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr5:40760800-40768800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr5:40760800-40769600	Strong transcription	Duodenum Mucosa	Duodenum
50	chr5:40760800-40777600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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