Variant report

Variant	rs17440077
Chromosome Location	chr4:110537567-110537568
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	chr4:110353186..110356088-chr4:110535620..110537677,2	K562	blood:

Variant related genes	Relation type
ENSG00000138802	Chromatin interaction
ENSG00000247950	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1008327	0.87[JPT][hapmap];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11728573	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11734973	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12510716	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13128388	0.81[CEU][hapmap];0.84[JPT][hapmap];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs13846	0.84[JPT][hapmap]
rs149800	0.81[CHB][hapmap];0.86[CHD][hapmap];0.83[GIH][hapmap];0.94[JPT][hapmap];0.83[MEX][hapmap];0.90[TSI][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs197207	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs197209	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs197213	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs197218	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs197219	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs197220	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2346835	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs28515508	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4698770	0.89[CEU][hapmap];0.84[JPT][hapmap];1.00[YRI][hapmap];0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4698775	1.00[ASW][hapmap];0.90[CEU][hapmap];0.85[GIH][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap]
rs62326054	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62326057	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62326058	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs62327660	0.83[ASN][1000 genomes]
rs6533442	0.90[CEU][hapmap];0.84[JPT][hapmap];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6533446	0.84[JPT][hapmap]
rs6824270	0.82[CHD][hapmap];0.80[GIH][hapmap];0.84[JPT][hapmap]
rs6824542	0.83[JPT][hapmap]
rs72674829	0.84[ASN][1000 genomes]
rs7658262	0.83[JPT][hapmap];0.82[TSI][hapmap]
rs7690921	0.81[CEU][hapmap];0.82[CHD][hapmap];0.85[GIH][hapmap];0.84[JPT][hapmap];0.85[TSI][hapmap]

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	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	esv3419480	chr4:110521397-110549622	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17440077	ENPEP	cis	lymphoblastoid	seeQTL
rs17440077	CASP6	cis	cerebellum	SCAN

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110531000-110546000	Weak transcription	Esophagus	oesophagus
2	chr4:110531000-110550600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr4:110531400-110546000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr4:110531400-110546000	Weak transcription	Spleen	Spleen
5	chr4:110531600-110543800	Weak transcription	Primary T cells fromperipheralblood	blood
6	chr4:110531600-110543800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr4:110531600-110545000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:110531600-110546000	Weak transcription	Thymus	Thymus
9	chr4:110531600-110549600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:110531800-110543800	Weak transcription	Fetal Thymus	thymus
11	chr4:110532000-110537600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr4:110532600-110545800	Weak transcription	Primary hematopoietic stem cells	blood
13	chr4:110532800-110546000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr4:110533000-110573000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr4:110533400-110552800	Weak transcription	Primary B cells from cord blood	blood
16	chr4:110534400-110539600	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr4:110534400-110539800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr4:110534800-110547000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr4:110536000-110545800	Weak transcription	Dnd41	blood
20	chr4:110536000-110552800	Weak transcription	Primary B cells from peripheral blood	blood
21	chr4:110536200-110546000	Weak transcription	Aorta	Aorta
22	chr4:110536400-110538400	Weak transcription	GM12878-XiMat	blood
23	chr4:110536400-110538600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr4:110536400-110552800	Weak transcription	Adipose Nuclei	Adipose
25	chr4:110536400-110552800	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr4:110537000-110537600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr4:110537000-110538600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr4:110537000-110538600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr4:110537000-110539800	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr4:110537200-110538000	Enhancers	Fetal Kidney	kidney
31	chr4:110537200-110538600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr4:110537400-110538600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr4:110537400-110539400	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr4:110537400-110539400	Genic enhancers	Primary T cells from cord blood	blood
35	chr4:110537400-110543800	Weak transcription	Ovary	ovary
36	chr4:110537400-110547200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links