Variant report

Variant	rs11130115
Chromosome Location	chr3:47181661-47181662
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47181313..47183259-chr3:47377303..47380190,2	K562	blood:
2	chr3:47181264..47183040-chr3:47204354..47206235,2	K562	blood:

Variant related genes	Relation type
ENSG00000227398	Chromatin interaction
ENSG00000181555	Chromatin interaction

Extended variants
information (count: 113 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10433549	0.91[CEU][hapmap]
rs10461018	0.96[CEU][hapmap];0.86[CHD][hapmap];0.98[GIH][hapmap];0.95[TSI][hapmap]
rs1076394	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.88[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]
rs11130110	0.93[ASW][hapmap];0.96[CEU][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];0.88[LWK][hapmap];0.88[MEX][hapmap];0.81[MKK][hapmap];0.98[TSI][hapmap];0.94[YRI][hapmap]
rs11130111	0.96[CEU][hapmap];0.93[YRI][hapmap]
rs11130112	0.96[CEU][hapmap];0.98[GIH][hapmap];0.80[MEX][hapmap];0.98[TSI][hapmap]
rs11130114	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11130123	1.00[ASW][hapmap];0.85[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.95[TSI][hapmap];0.81[YRI][hapmap]
rs11130124	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.98[TSI][hapmap]
rs11130126	0.82[CEU][hapmap];0.91[TSI][hapmap]
rs11708451	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11710013	1.00[ASW][hapmap];0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap]
rs11710322	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.93[TSI][hapmap]
rs11712716	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11714282	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11714373	0.90[EUR][1000 genomes]
rs11716539	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11718795	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11719306	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11719738	0.91[EUR][1000 genomes]
rs11720139	0.92[CEU][hapmap]
rs11915074	0.82[CEU][hapmap]
rs11920853	0.82[CEU][hapmap]
rs11923706	0.85[EUR][1000 genomes]
rs12488225	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12489211	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12493425	0.91[EUR][1000 genomes]
rs12629262	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12635619	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13061071	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]
rs13062022	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13063250	0.80[AFR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13078131	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13084117	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13091054	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13094438	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.98[TSI][hapmap];0.87[YRI][hapmap];0.85[ASN][1000 genomes]
rs13094672	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13098228	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1466740	0.84[EUR][1000 genomes]
rs1466741	0.88[CEU][hapmap];0.84[EUR][1000 genomes]
rs1638676	0.93[ASW][hapmap];0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.82[MKK][hapmap];0.95[TSI][hapmap]
rs17784127	0.88[CEU][hapmap]
rs1811652	0.91[EUR][1000 genomes]
rs2061197	0.96[CEU][hapmap];0.86[CHD][hapmap];0.98[GIH][hapmap];0.95[TSI][hapmap]
rs2132173	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[TSI][hapmap];0.93[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2159400	0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.91[TSI][hapmap]
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];0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2276854	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.85[ASN][1000 genomes]
rs2278963	0.92[CEU][hapmap];0.93[TSI][hapmap]
rs2305634	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.99[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap]
rs2305635	0.92[CEU][hapmap]
rs2305638	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs295428	0.85[ASW][hapmap];0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.87[MEX][hapmap];0.95[TSI][hapmap]
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];0.88[GIH][hapmap];0.95[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap]
rs295449	0.85[ASW][hapmap];0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.91[MEX][hapmap];0.95[TSI][hapmap]
rs295461	0.85[ASW][hapmap];0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap]
rs34103310	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4018905	0.88[EUR][1000 genomes]
rs4078466	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4082155	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.99[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4234465	0.96[CEU][hapmap];0.91[GIH][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap]
rs4682837	0.96[CEU][hapmap];0.94[YRI][hapmap]
rs4682844	0.96[CEU][hapmap];0.86[CHD][hapmap];0.98[GIH][hapmap];0.93[TSI][hapmap]
rs4682852	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4683320	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4683322	0.92[CEU][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes]
rs4683324	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4683326	0.88[CEU][hapmap]
rs57756484	0.87[EUR][1000 genomes]
rs58956475	0.90[EUR][1000 genomes]
rs62246451	0.91[EUR][1000 genomes]
rs62246455	0.88[EUR][1000 genomes]
rs6414435	0.80[EUR][1000 genomes]
rs6414436	0.84[EUR][1000 genomes]
rs6442055	0.80[EUR][1000 genomes]
rs6442059	0.91[EUR][1000 genomes]
rs6763236	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6766230	0.91[EUR][1000 genomes]
rs6767907	0.92[CEU][hapmap];0.93[TSI][hapmap];0.90[EUR][1000 genomes]
rs6768221	0.81[CEU][hapmap]
rs6772670	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6773521	0.88[EUR][1000 genomes]
rs6777145	0.80[EUR][1000 genomes]
rs6781941	0.86[EUR][1000 genomes]
rs6785790	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6791062	0.89[EUR][1000 genomes]
rs6791842	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.96[MEX][hapmap];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6794193	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7433300	0.81[CEU][hapmap]
rs749511	0.92[CEU][hapmap];0.93[TSI][hapmap]
rs749512	0.85[CEU][hapmap]
rs7610636	0.81[EUR][1000 genomes]
rs7615323	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7620997	0.81[EUR][1000 genomes]
rs7621911	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7625067	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7625070	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7628747	1.00[ASW][hapmap];0.96[CEU][hapmap];0.86[CHD][hapmap];0.91[GIH][hapmap];0.90[LWK][hapmap];0.88[MEX][hapmap];0.80[MKK][hapmap];0.98[TSI][hapmap];0.94[YRI][hapmap]
rs807932	0.85[ASW][hapmap];0.85[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.95[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap]
rs807936	0.93[ASW][hapmap];0.89[CEU][hapmap];0.91[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];0.95[JPT][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.81[MKK][hapmap];0.95[TSI][hapmap]
rs811115	0.91[CEU][hapmap];0.95[CHB][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap]
rs9311403	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs9812878	0.81[EUR][1000 genomes]
rs9818382	0.91[EUR][1000 genomes]
rs9821119	0.91[EUR][1000 genomes]
rs9837343	0.92[CEU][hapmap];0.93[TSI][hapmap];0.91[EUR][1000 genomes]
rs9843075	0.87[EUR][1000 genomes]
rs9854790	0.80[EUR][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	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
2	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
3	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:8)

SNP	Gene	Cis/trans	Tissue	Source
rs11130115	SCAP	cis	parietal	SCAN
rs11130115	RTP3	cis	lesional skin	skin_eQTL
rs11130115	KLHL18	Cis_1M	lymphoblastoid	RTeQTL
rs11130115	C3orf75	cis	cerebellum	SCAN
rs11130115	HYAL2	cis	cerebellum	SCAN
rs11130115	SETD2	Cis_1M	lymphoblastoid	RTeQTL
rs11130115	PRKAR2A	cis	cerebellum	SCAN
rs11130115	CCDC12	cis	cerebellum	SCAN

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47155400-47183800	Weak transcription	Esophagus	oesophagus
2	chr3:47165800-47187000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr3:47165800-47191000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr3:47165800-47197000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:47166000-47181800	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr3:47166000-47182000	Weak transcription	Lung	lung
7	chr3:47166000-47182000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr3:47166000-47182600	Weak transcription	Fetal Lung	lung
9	chr3:47166000-47182800	Weak transcription	Rectal Smooth Muscle	rectum
10	chr3:47166000-47183000	Weak transcription	Fetal Kidney	kidney
11	chr3:47166000-47200800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr3:47166000-47201200	Weak transcription	Fetal Muscle Leg	muscle
13	chr3:47166000-47204600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr3:47166200-47197200	Weak transcription	Aorta	Aorta
15	chr3:47166200-47200600	Weak transcription	Hela-S3	cervix
16	chr3:47166400-47194200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:47166600-47182800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr3:47166600-47204200	Weak transcription	Fetal Muscle Trunk	muscle
19	chr3:47167200-47182000	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr3:47167400-47202400	Weak transcription	HSMM	muscle
21	chr3:47167800-47181800	Weak transcription	Fetal Intestine Small	intestine
22	chr3:47167800-47187600	Weak transcription	Fetal Stomach	stomach
23	chr3:47167800-47195400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:47170000-47182000	Weak transcription	Pancreas	Pancrea
25	chr3:47170200-47182800	Weak transcription	Dnd41	blood
26	chr3:47170200-47183600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr3:47172600-47182000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:47172600-47183200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:47173600-47191000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr3:47175800-47181800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr3:47175800-47182000	Weak transcription	Fetal Thymus	thymus
32	chr3:47175800-47200400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr3:47176400-47190800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr3:47176600-47184600	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr3:47176800-47182600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr3:47177200-47182000	Weak transcription	Right Atrium	heart
37	chr3:47177400-47181800	Weak transcription	Liver	Liver
38	chr3:47177400-47182000	Weak transcription	Primary B cells from cord blood	blood
39	chr3:47177400-47182800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr3:47177400-47182800	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr3:47177800-47182600	Weak transcription	Brain Anterior Caudate	brain
42	chr3:47177800-47182800	Weak transcription	K562	blood
43	chr3:47177800-47194200	Weak transcription	Brain Hippocampus Middle	brain
44	chr3:47178000-47181800	Weak transcription	Small Intestine	intestine
45	chr3:47178000-47182200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr3:47178000-47182400	Weak transcription	Stomach Mucosa	stomach
47	chr3:47178000-47182600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:47178000-47182800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr3:47178000-47182800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr3:47178000-47182800	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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