Variant report

Variant	rs11914913
Chromosome Location	chr3:47528193-47528194
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	chr3:47527701..47530280-chr3:47534062..47536180,2	K562	blood:

Extended variants
information (count: 87 )
Associated
traits (count: 10 )

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1038394	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];0.98[TSI][hapmap];0.85[YRI][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10865946	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap]
rs11130128	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11130129	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11130132	0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11130133	0.84[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs11130137	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];0.83[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.91[EUR][1000 genomes]
rs11705957	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.80[EUR][1000 genomes]
rs11707895	0.90[EUR][1000 genomes]
rs11710121	0.88[CEU][hapmap]
rs11710322	0.96[CEU][hapmap];0.80[GIH][hapmap];0.81[JPT][hapmap];0.89[TSI][hapmap]
rs11711265	1.00[CEU][hapmap];1.00[GIH][hapmap];0.88[LWK][hapmap];0.83[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.90[YRI][hapmap];0.95[EUR][1000 genomes]
rs11711824	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.92[MEX][hapmap];0.91[MKK][hapmap];0.98[TSI][hapmap];0.80[YRI][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11712445	1.00[CEU][hapmap];0.85[YRI][hapmap];0.80[EUR][1000 genomes]
rs11713413	0.88[EUR][1000 genomes]
rs11716763	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11719877	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap];0.80[EUR][1000 genomes]
rs11914795	0.82[EUR][1000 genomes]
rs11914932	0.95[EUR][1000 genomes]
rs12489046	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12490058	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12492433	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12495169	0.82[CHB][hapmap];0.84[CHD][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs12497225	0.81[EUR][1000 genomes]
rs12630641	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12632132	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12636851	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13059519	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];0.96[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13064843	0.80[EUR][1000 genomes]
rs13075233	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.96[MEX][hapmap];0.93[MKK][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap];0.80[EUR][1000 genomes]
rs1531875	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap];0.81[EUR][1000 genomes]
rs1564760	0.81[GIH][hapmap]
rs17080872	0.83[CHB][hapmap];0.87[CHD][hapmap];0.82[JPT][hapmap]
rs17410853	0.88[CEU][hapmap]
rs17411375	0.96[CEU][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.89[TSI][hapmap]
rs17784882	1.00[CEU][hapmap];1.00[GIH][hapmap];0.98[TSI][hapmap];0.96[EUR][1000 genomes]
rs1872164	1.00[CEU][hapmap];0.95[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[TSI][hapmap];0.81[EUR][1000 genomes]
rs2062278	0.81[EUR][1000 genomes]
rs2101247	0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2159400	0.96[CEU][hapmap];0.95[GIH][hapmap];0.86[TSI][hapmap]
rs2291298	1.00[CEU][hapmap];0.85[YRI][hapmap];0.95[EUR][1000 genomes]
rs295428	0.96[CEU][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.97[LWK][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];0.81[YRI][hapmap]
rs295433	0.81[YRI][hapmap]
rs295441	0.96[CEU][hapmap];0.81[JPT][hapmap]
rs295442	0.96[CEU][hapmap];0.80[GIH][hapmap];0.81[JPT][hapmap];0.91[TSI][hapmap]
rs295449	0.96[CEU][hapmap];0.95[GIH][hapmap];0.95[LWK][hapmap];0.87[MEX][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];0.81[YRI][hapmap]
rs295458	0.96[CEU][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.88[LWK][hapmap];0.83[MEX][hapmap];0.90[MKK][hapmap];0.91[TSI][hapmap];0.81[YRI][hapmap]
rs295461	0.96[CEU][hapmap];0.95[GIH][hapmap];0.95[LWK][hapmap];0.83[MEX][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];0.81[YRI][hapmap]
rs34634681	0.90[EUR][1000 genomes]
rs3736177	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs3816779	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.86[LWK][hapmap];0.88[MEX][hapmap];0.80[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4599332	0.90[EUR][1000 genomes]
rs4858811	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4858824	1.00[CEU][hapmap]
rs4858848	0.80[EUR][1000 genomes]
rs4858856	0.93[EUR][1000 genomes]
rs4858868	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.95[JPT][hapmap];0.93[LWK][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];0.95[TSI][hapmap];0.85[YRI][hapmap];0.82[EUR][1000 genomes]
rs4858893	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4858894	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.87[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56032309	0.81[EUR][1000 genomes]
rs57346147	0.81[EUR][1000 genomes]
rs59586735	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60369822	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62248599	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62248603	0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62248605	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62260710	0.92[EUR][1000 genomes]
rs62260711	0.92[EUR][1000 genomes]
rs62260741	0.87[EUR][1000 genomes]
rs6765990	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6780013	0.92[CEU][hapmap];0.86[TSI][hapmap]
rs6787422	0.80[EUR][1000 genomes]
rs6790763	0.90[EUR][1000 genomes]
rs6792461	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6792488	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6800271	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.98[TSI][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73081205	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7628631	0.95[EUR][1000 genomes]
rs7649234	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7651194	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7651762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs807932	0.92[CEU][hapmap];0.95[GIH][hapmap];0.81[JPT][hapmap];0.95[LWK][hapmap];0.83[MEX][hapmap];0.91[MKK][hapmap];0.91[TSI][hapmap];0.81[YRI][hapmap]
rs878659	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs922957	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs9683033	1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.96[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9683177	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 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

mRNA abundance (count:10)

SNP	Gene	Cis/trans	Tissue	Source
rs11914913	CCDC12	cis	cerebellum	SCAN
rs11914913	SETD2	Cis_1M	lymphoblastoid	RTeQTL
rs11914913	AMIGO3	cis	cerebellum	SCAN
rs11914913	C3orf75	cis	cerebellum	SCAN
rs11914913	SCAP	cis	parietal	SCAN
rs11914913	HYAL2	cis	cerebellum	SCAN
rs11914913	IFRD2	cis	parietal	SCAN
rs11914913	KLHL18	Cis_1M	lymphoblastoid	RTeQTL
rs11914913	PRKAR2A	cis	cerebellum	SCAN
rs11914913	NCKIPSD	cis	cerebellum	SCAN

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47517800-47535200	Weak transcription	Esophagus	oesophagus
2	chr3:47517800-47536600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:47517800-47544400	Weak transcription	Small Intestine	intestine
4	chr3:47518200-47536600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr3:47518200-47541600	Weak transcription	Fetal Kidney	kidney
6	chr3:47518400-47528200	Weak transcription	Fetal Brain Female	brain
7	chr3:47518400-47528200	Weak transcription	HSMM	muscle
8	chr3:47518400-47529200	Weak transcription	Fetal Stomach	stomach
9	chr3:47518400-47530000	Weak transcription	Brain Germinal Matrix	brain
10	chr3:47518400-47530600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr3:47518400-47532800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:47518400-47535200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr3:47518400-47535600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr3:47518400-47536600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr3:47518400-47536600	Weak transcription	Primary T cells from cord blood	blood
16	chr3:47518400-47536600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr3:47518400-47536600	Weak transcription	Aorta	Aorta
18	chr3:47518400-47536600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr3:47518400-47536600	Weak transcription	Fetal Muscle Leg	muscle
20	chr3:47518400-47536600	Weak transcription	Gastric	stomach
21	chr3:47518400-47536600	Weak transcription	HSMMtube	muscle
22	chr3:47518400-47536600	Weak transcription	NHLF	lung
23	chr3:47518400-47536800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr3:47518400-47536800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr3:47518400-47537000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:47518400-47539400	Weak transcription	Primary hematopoietic stem cells	blood
27	chr3:47518600-47530000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:47518600-47530000	Weak transcription	Fetal Thymus	thymus
29	chr3:47518600-47532200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr3:47518600-47532200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr3:47518600-47532400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr3:47518600-47533200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr3:47518600-47535400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr3:47518600-47536400	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr3:47518600-47536600	Weak transcription	Primary B cells from cord blood	blood
36	chr3:47518600-47536600	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr3:47518600-47536600	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr3:47518600-47536600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr3:47518600-47536600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:47518600-47536600	Weak transcription	Adipose Nuclei	Adipose
41	chr3:47518600-47536600	Weak transcription	Placenta	Placenta
42	chr3:47518600-47536600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr3:47518600-47536800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:47518600-47536800	Weak transcription	Colon Smooth Muscle	Colon
45	chr3:47518600-47536800	Weak transcription	Rectal Smooth Muscle	rectum
46	chr3:47518800-47528600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr3:47518800-47532200	Weak transcription	Primary B cells from peripheral blood	blood
48	chr3:47518800-47532400	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr3:47518800-47532800	Weak transcription	Stomach Smooth Muscle	stomach
50	chr3:47518800-47535200	Weak transcription	Primary T helper cells PMA-I stimulated	--

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