Variant report

Variant	rs13061071
Chromosome Location	chr3:47138708-47138709
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47016641..47019456-chr3:47138519..47140806,2	K562	blood:
2	chr3:47125477..47129323-chr3:47137612..47139651,3	K562	blood:

Variant related genes	Relation type
ENSG00000160799	Chromatin interaction

Extended variants
information (count: 134 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:127)

rs_ID	r²[population]
rs10433549	0.91[CEU][hapmap]
rs10461018	0.96[CEU][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap]
rs1076394	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap]
rs1079276	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11130110	0.93[ASW][hapmap];0.96[CEU][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.88[LWK][hapmap];0.88[MEX][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];0.94[YRI][hapmap]
rs11130111	0.96[CEU][hapmap];0.93[YRI][hapmap]
rs11130112	0.96[CEU][hapmap];1.00[GIH][hapmap];0.80[MEX][hapmap];0.98[TSI][hapmap]
rs11130114	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11130115	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11130123	1.00[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];0.81[YRI][hapmap]
rs11130124	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.98[TSI][hapmap]
rs11130126	0.82[CEU][hapmap];0.91[TSI][hapmap]
rs11708451	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11709660	0.81[EUR][1000 genomes]
rs11710013	1.00[ASW][hapmap];0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.98[TSI][hapmap]
rs11710322	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap]
rs11712716	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11714282	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11714373	0.86[EUR][1000 genomes]
rs11715121	0.81[EUR][1000 genomes]
rs11716539	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11718795	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11719306	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11719738	0.87[EUR][1000 genomes]
rs11719795	0.81[JPT][hapmap]
rs11720139	0.92[CEU][hapmap]
rs11915074	0.82[CEU][hapmap]
rs11917361	0.81[EUR][1000 genomes]
rs11920853	0.82[CEU][hapmap]
rs11923706	0.82[EUR][1000 genomes]
rs12488225	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12489211	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12493425	0.87[EUR][1000 genomes]
rs12629262	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12635619	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12715421	0.82[EUR][1000 genomes]
rs13062022	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13063250	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13066214	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13078131	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13084117	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13091054	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13094438	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.98[TSI][hapmap];0.87[YRI][hapmap];0.83[ASN][1000 genomes]
rs13094672	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13098228	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1466740	0.80[EUR][1000 genomes]
rs1466741	0.88[CEU][hapmap];0.80[EUR][1000 genomes]
rs1638676	0.93[ASW][hapmap];0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap]
rs17784127	0.88[CEU][hapmap]
rs1811652	0.87[EUR][1000 genomes]
rs2061197	0.96[CEU][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.95[TSI][hapmap]
rs2132173	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2276853	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.96[MEX][hapmap];0.98[TSI][hapmap];0.83[ASN][1000 genomes]
rs2276854	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.83[ASN][1000 genomes]
rs2278963	0.92[CEU][hapmap];0.93[TSI][hapmap]
rs2290546	0.81[JPT][hapmap]
rs2305634	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2305635	0.92[CEU][hapmap]
rs2305638	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[ASN][1000 genomes]
rs2385867	0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs295441	0.89[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs295442	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap]
rs34103310	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34344887	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4018905	0.91[EUR][1000 genomes]
rs4078466	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4082155	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4234465	0.96[CEU][hapmap];0.93[GIH][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap]
rs4587	0.81[JPT][hapmap]
rs4682837	0.96[CEU][hapmap];0.94[YRI][hapmap]
rs4682844	0.96[CEU][hapmap];0.86[CHD][hapmap];1.00[GIH][hapmap];0.93[TSI][hapmap]
rs4682852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4683297	0.81[JPT][hapmap]
rs4683298	0.81[JPT][hapmap]
rs4683320	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4683322	0.92[CEU][hapmap];0.91[TSI][hapmap];0.83[EUR][1000 genomes]
rs4683324	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4683326	0.88[CEU][hapmap]
rs57756484	0.83[EUR][1000 genomes]
rs58956475	0.86[EUR][1000 genomes]
rs62246451	0.87[EUR][1000 genomes]
rs62246455	0.84[EUR][1000 genomes]
rs6414435	0.84[EUR][1000 genomes]
rs6414436	0.88[EUR][1000 genomes]
rs6442040	0.81[JPT][hapmap]
rs6442055	0.83[EUR][1000 genomes]
rs6442059	0.87[EUR][1000 genomes]
rs6763236	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6766230	0.87[EUR][1000 genomes]
rs6767907	0.92[CEU][hapmap];0.93[TSI][hapmap];0.88[EUR][1000 genomes]
rs6768221	0.81[CEU][hapmap]
rs6768722	0.81[EUR][1000 genomes]
rs6772670	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6773521	0.84[EUR][1000 genomes]
rs6777145	0.83[EUR][1000 genomes]
rs6781941	0.82[EUR][1000 genomes]
rs6785790	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6791062	0.85[EUR][1000 genomes]
rs6791842	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.82[ASN][1000 genomes]
rs6794193	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7433300	0.81[CEU][hapmap]
rs749511	0.92[CEU][hapmap];0.93[TSI][hapmap]
rs749512	0.85[CEU][hapmap]
rs7610636	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7615323	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7621911	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7623888	0.83[EUR][1000 genomes]
rs7625067	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7625070	0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7628747	1.00[ASW][hapmap];0.96[CEU][hapmap];0.86[CHD][hapmap];0.93[GIH][hapmap];0.90[LWK][hapmap];0.88[MEX][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];0.94[YRI][hapmap]
rs7633435	0.81[EUR][1000 genomes]
rs7637302	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7645278	0.81[JPT][hapmap]
rs807936	0.93[ASW][hapmap];0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.86[GIH][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap]
rs811115	0.91[CEU][hapmap];0.95[CHB][hapmap];0.83[GIH][hapmap];0.95[JPT][hapmap]
rs9311403	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs9818382	0.87[EUR][1000 genomes]
rs9821119	0.87[EUR][1000 genomes]
rs9837343	0.92[CEU][hapmap];0.93[TSI][hapmap];0.87[EUR][1000 genomes]
rs9843075	0.84[EUR][1000 genomes]
rs9844122	0.82[EUR][1000 genomes]
rs9845728	0.82[EUR][1000 genomes]
rs9852082	0.81[JPT][hapmap]
rs9854790	0.83[EUR][1000 genomes]
rs9855938	0.81[JPT][hapmap]
rs9858443	0.82[EUR][1000 genomes]
rs9875235	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3461834	chr3:46977730-47173228	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv3461835	chr3:46977822-47173168	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	esv3461836	chr3:46977822-47173168	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
5	nsv1007714	chr3:47084387-47331570	Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv1002970	chr3:47120592-47170607	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	nsv590210	chr3:47126543-47214122	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs13061071	KLHL18	Cis_1M	lymphoblastoid	RTeQTL
rs13061071	PRKAR2A	cis	cerebellum	SCAN
rs13061071	SCAP	cis	parietal	SCAN
rs13061071	SETD2	Cis_1M	lymphoblastoid	RTeQTL
rs13061071	C3orf75	cis	cerebellum	SCAN
rs13061071	HYAL2	cis	cerebellum	SCAN
rs13061071	CCDC12	cis	cerebellum	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47098800-47149600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr3:47101400-47147800	Strong transcription	Dnd41	blood
3	chr3:47110200-47150200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:47110600-47148000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:47111000-47147600	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr3:47112400-47153600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr3:47114600-47147800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:47115400-47147800	Strong transcription	Fetal Thymus	thymus
9	chr3:47117600-47148600	Strong transcription	Placenta	Placenta
10	chr3:47118200-47139200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr3:47118200-47148600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr3:47118400-47140600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:47118600-47143400	Weak transcription	Fetal Heart	heart
14	chr3:47122600-47143600	Weak transcription	Right Ventricle	heart
15	chr3:47122800-47138800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr3:47123000-47159200	Weak transcription	Brain Substantia Nigra	brain
17	chr3:47124600-47154400	Weak transcription	Fetal Brain Male	brain
18	chr3:47125600-47140600	Strong transcription	Primary B cells from cord blood	blood
19	chr3:47125600-47154600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr3:47125800-47150000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:47125800-47153600	Weak transcription	Esophagus	oesophagus
22	chr3:47125800-47154600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr3:47125800-47154600	Weak transcription	Gastric	stomach
24	chr3:47125800-47155000	Strong transcription	Primary B cells from peripheral blood	blood
25	chr3:47126000-47153600	Weak transcription	Aorta	Aorta
26	chr3:47126400-47159800	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr3:47126800-47168200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr3:47127000-47142800	Weak transcription	Brain Angular Gyrus	brain
29	chr3:47128400-47150400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr3:47129000-47143400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr3:47129400-47145800	Weak transcription	Lung	lung
32	chr3:47130400-47139800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr3:47131000-47139000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr3:47131800-47143000	Weak transcription	Stomach Mucosa	stomach
35	chr3:47131800-47145800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr3:47133200-47143400	Strong transcription	Liver	Liver
37	chr3:47133200-47148200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr3:47133600-47147800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr3:47134200-47141400	Strong transcription	Duodenum Mucosa	Duodenum
40	chr3:47134200-47147800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:47134400-47147800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr3:47134600-47139400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr3:47134800-47139800	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr3:47134800-47147800	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr3:47134800-47147800	Strong transcription	Adipose Nuclei	Adipose
46	chr3:47135000-47140800	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr3:47135000-47144200	Strong transcription	Fetal Muscle Leg	muscle
48	chr3:47135000-47158800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr3:47135200-47139600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr3:47135200-47139600	Strong transcription	Skeletal Muscle Male	skeletal muscle

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