Variant report

Variant	rs7218813
Chromosome Location	chr17:45394752-45394753
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:45302596..45304693-chr17:45393589..45396501,2	MCF-7	breast:
2	chr17:45295037..45297924-chr17:45394687..45396289,2	K562	blood:
3	chr17:45305601..45307191-chr17:45393436..45394974,2	K562	blood:
4	chr17:45386706..45389041-chr17:45392515..45394935,2	K562	blood:

Variant related genes	Relation type
ENSG00000198336	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 13 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11079772	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];0.91[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11650072	0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs11658426	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12600865	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12948299	0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1969267	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2271803	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2317677	0.82[EUR][1000 genomes]
rs34589418	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35161461	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.87[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35435669	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35983484	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3760372	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3809865	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4968314	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4968316	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6504833	0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs6504836	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7214993	0.86[ASW][hapmap];0.81[CEU][hapmap];0.84[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7216112	0.94[JPT][hapmap];0.84[MEX][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7221232	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7224753	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7225700	0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs8075410	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9303534	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9893410	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9894860	0.82[EUR][1000 genomes]
rs9899121	0.82[EUR][1000 genomes]
rs9916007	0.81[AMR][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	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

mRNA abundance (count:13)

SNP	Gene	Cis/trans	Tissue	Source
rs7218813	C17orf57	cis	parietal	SCAN
rs7218813	C17orf57	cis	cerebellum	SCAN
rs7218813	KRT31	cis	parietal	SCAN
rs7218813	KPNB1	Cis_1M	lymphoblastoid	RTeQTL
rs7218813	RAB5C	cis	parietal	SCAN
rs7218813	MRPL45P2	cis	lymphoblastoid	seeQTL
rs7218813	VPS25	cis	cerebellum	SCAN
rs7218813	TBKBP1	cis	lung	GTEx
rs7218813	DBF4B	cis	cerebellum	SCAN
rs7218813	TBKBP1	cis	multi-tissue	Pritchard
rs7218813	NBR1	cis	parietal	SCAN
rs7218813	TBKBP1	cis	Skin Sun Exposed Lower leg	GTEx
rs7218813	LOC653479	cis	multi-tissue	Pritchard

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45357200-45398000	Weak transcription	Psoas Muscle	Psoas
2	chr17:45382800-45400800	Weak transcription	Lung	lung
3	chr17:45388400-45398000	Weak transcription	Fetal Muscle Trunk	muscle
4	chr17:45388800-45400800	Weak transcription	Aorta	Aorta
5	chr17:45391200-45394800	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr17:45391200-45400800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr17:45391800-45395000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr17:45392000-45394800	Enhancers	NH-A	brain
9	chr17:45392000-45395000	Enhancers	NHLF	lung
10	chr17:45392000-45395200	Enhancers	Osteobl	bone
11	chr17:45392200-45394800	Enhancers	Hela-S3	cervix
12	chr17:45392200-45395000	Enhancers	NHDF-Ad	bronchial
13	chr17:45392400-45395600	Weak transcription	GM12878-XiMat	blood
14	chr17:45392600-45394800	Enhancers	Liver	Liver
15	chr17:45392800-45394800	Enhancers	Fetal Intestine Large	intestine
16	chr17:45392800-45394800	Enhancers	Rectal Mucosa Donor 31	rectum
17	chr17:45392800-45395000	Enhancers	HepG2	liver
18	chr17:45392800-45395200	Enhancers	Fetal Intestine Small	intestine
19	chr17:45393000-45394800	Enhancers	Duodenum Mucosa	Duodenum
20	chr17:45393000-45398000	Weak transcription	Fetal Muscle Leg	muscle
21	chr17:45393000-45398200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr17:45393000-45400600	Weak transcription	Brain Angular Gyrus	brain
23	chr17:45393200-45395800	Weak transcription	HSMMtube	muscle
24	chr17:45393200-45400600	Weak transcription	Brain Cingulate Gyrus	brain
25	chr17:45393200-45400600	Weak transcription	Colon Smooth Muscle	Colon
26	chr17:45393200-45400600	Weak transcription	Fetal Heart	heart
27	chr17:45393200-45400600	Weak transcription	Pancreas	Pancrea
28	chr17:45393600-45395200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr17:45393600-45398000	Weak transcription	Fetal Stomach	stomach
30	chr17:45393600-45398400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr17:45393800-45394800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr17:45393800-45395000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr17:45393800-45395800	Weak transcription	A549	lung
34	chr17:45394200-45395200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr17:45394200-45400600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr17:45394200-45400600	Weak transcription	Rectal Smooth Muscle	rectum
37	chr17:45394400-45394800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr17:45394400-45394800	Enhancers	Colonic Mucosa	Colon
39	chr17:45394400-45394800	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr17:45394400-45395200	Enhancers	Stomach Mucosa	stomach
41	chr17:45394400-45400000	Weak transcription	HUVEC	blood vessel
42	chr17:45394600-45394800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr17:45394600-45395000	Enhancers	Small Intestine	intestine
44	chr17:45394600-45398400	Weak transcription	Adipose Nuclei	Adipose

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