Variant report

Variant	rs4718333
Chromosome Location	chr7:65772758-65772759
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65673035..65675351-chr7:65772228..65774640,2	K562	blood:

Extended variants
information (count: 100 )
Associated
traits (count: 14 )

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10246556	0.85[ASN][1000 genomes]
rs10247526	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10807701	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10807702	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10950032	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12530490	1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13222887	0.90[AFR][1000 genomes]
rs13224048	0.90[AFR][1000 genomes]
rs13235972	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13237037	0.90[AFR][1000 genomes]
rs13241548	0.90[AFR][1000 genomes]
rs13242216	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs1392104	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1499613	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1499614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1532573	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[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1546059	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1553174	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs160637	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs160639	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs1818045	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1873494	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1979823	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[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2243480	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2257790	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2420170	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2420171	0.90[EUR][1000 genomes]
rs2420172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs2460425	0.90[EUR][1000 genomes]
rs2460426	0.90[EUR][1000 genomes]
rs2460431	0.90[EUR][1000 genomes]
rs2465120	0.87[EUR][1000 genomes]
rs316304	0.90[EUR][1000 genomes]
rs316314	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs316315	1.00[ASW][hapmap];0.84[CEU][hapmap];0.92[CHB][hapmap];0.89[CHD][hapmap];0.87[LWK][hapmap];0.90[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap]
rs316317	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs316318	0.84[EUR][1000 genomes]
rs316321	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs316322	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs316325	0.84[EUR][1000 genomes]
rs316326	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs316327	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs316329	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs316331	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs316334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs34192067	0.90[AFR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34700450	0.90[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs34807232	0.90[AFR][1000 genomes]
rs35823062	0.90[AFR][1000 genomes]
rs35825036	0.81[AFR][1000 genomes]
rs36104268	0.90[AFR][1000 genomes]
rs383402	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs4145008	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4149468	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs419603	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs422164	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4236207	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs431076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4481472	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4718309	0.90[EUR][1000 genomes]
rs4718315	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4718316	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4718317	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs4718334	0.87[ASN][1000 genomes]
rs58668827	0.90[AFR][1000 genomes]
rs58669269	0.82[AFR][1000 genomes]
rs6460274	0.90[EUR][1000 genomes]
rs6460277	0.86[EUR][1000 genomes]
rs6460285	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6958289	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6958420	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6959002	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6964245	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6964530	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6966322	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6974723	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs71563118	0.85[AFR][1000 genomes]
rs7778911	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs778679	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs778683	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs778687	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs778691	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs778693	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs778701	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs778704	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs778717	0.93[ASN][1000 genomes]
rs778718	0.89[AMR][1000 genomes]
rs7787230	0.90[EUR][1000 genomes]
rs778729	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs778732	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];0.94[MEX][hapmap];1.00[MKK][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs778733	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7792391	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7804223	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7808834	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs958550	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.90[EUR][1000 genomes]
rs9769882	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv508458	chr7:65724222-65842639	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1034195	chr7:65743409-65828266	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:14)

SNP	Gene	Cis/trans	Tissue	Source
rs4718333	ASL	cis	multi-tissue	Pritchard
rs4718333	VKORC1L1	cis	Whole Blood	GTEx
rs4718333	ZNF117	cis	cerebellum	SCAN
rs4718333	GUSB	cis	Whole Blood	GTEx
rs4718333	RP4-756H11.3	cis	Skin Sun Exposed Lower leg	GTEx
rs4718333	ASL	Cis_1M	lymphoblastoid	RTeQTL
rs4718333	VKORC1L1	Cis_1M	lymphoblastoid	RTeQTL
rs4718333	ASL	cis	cerebellum	SCAN
rs4718333	CRCP	cis	cerebellum	SCAN
rs4718333	RP4-756H11.3	cis	lung	GTEx
rs4718333	ZNF117	cis	parietal	SCAN
rs4718333	VKORC1L1	cis	parietal	SCAN
rs4718333	ZNF273	cis	parietal	SCAN
rs4718333	CRCP	cis	parietal	SCAN

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65763000-65786200	Weak transcription	Primary B cells from cord blood	blood
2	chr7:65766400-65777600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr7:65766800-65780200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:65768000-65780200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:65768200-65773000	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr7:65768200-65773400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:65768200-65780200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:65768800-65773600	Enhancers	Stomach Mucosa	stomach
9	chr7:65769000-65772800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:65769400-65776200	Weak transcription	Lung	lung
11	chr7:65769400-65779600	Weak transcription	Fetal Stomach	stomach
12	chr7:65769600-65774400	Weak transcription	Colon Smooth Muscle	Colon
13	chr7:65769800-65774800	Enhancers	HUVEC	blood vessel
14	chr7:65770400-65775600	Enhancers	HepG2	liver
15	chr7:65770800-65772800	Enhancers	Hela-S3	cervix
16	chr7:65770800-65774000	Weak transcription	Spleen	Spleen
17	chr7:65771200-65775200	Weak transcription	Brain Angular Gyrus	brain
18	chr7:65771200-65776000	Enhancers	Pancreas	Pancrea
19	chr7:65771400-65784000	Weak transcription	Fetal Lung	lung
20	chr7:65771600-65776400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr7:65771600-65777000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr7:65771600-65783600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr7:65771800-65772800	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr7:65771800-65775000	Weak transcription	Ovary	ovary
25	chr7:65772200-65773800	Enhancers	Osteobl	bone
26	chr7:65772200-65775800	Enhancers	Liver	Liver
27	chr7:65772400-65773200	Enhancers	HSMM	muscle
28	chr7:65772400-65773200	Enhancers	NHDF-Ad	bronchial
29	chr7:65772400-65773400	Enhancers	Muscle Satellite Cultured Cells	--
30	chr7:65772400-65773400	Enhancers	NHLF	lung
31	chr7:65772400-65773600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:65772400-65773600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
33	chr7:65772400-65774000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:65772400-65775600	Enhancers	Fetal Intestine Large	intestine
35	chr7:65772400-65775600	Enhancers	Fetal Intestine Small	intestine
36	chr7:65772600-65772800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:65772600-65772800	Enhancers	Right Atrium	heart
38	chr7:65772600-65773000	Enhancers	Fetal Heart	heart
39	chr7:65772600-65773200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr7:65772600-65773200	Enhancers	Brain Substantia Nigra	brain
41	chr7:65772600-65773200	Enhancers	Duodenum Mucosa	Duodenum
42	chr7:65772600-65773200	Enhancers	Left Ventricle	heart
43	chr7:65772600-65773200	Enhancers	Small Intestine	intestine
44	chr7:65772600-65773400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:65772600-65773600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr7:65772600-65773600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:65772600-65773600	Enhancers	Esophagus	oesophagus
48	chr7:65772600-65773800	Enhancers	Gastric	stomach
49	chr7:65772600-65773800	Enhancers	HMEC	breast
50	chr7:65772600-65773800	Enhancers	NH-A	brain

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