Variant report

Variant	rs7326714
Chromosome Location	chr13:76363655-76363656
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1036869	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1570556	0.84[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs2031241	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2120067	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2120068	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2274062	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4885348	0.84[EUR][1000 genomes]
rs4885349	0.92[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs618930	0.81[ASN][1000 genomes]
rs7139507	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7320900	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7321748	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];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]
rs7322414	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7331429	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7992526	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7996791	0.81[CEU][hapmap]
rs9530467	0.83[AFR][1000 genomes]
rs9530472	0.83[CEU][hapmap]
rs9530473	0.82[GIH][hapmap]
rs9544043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9573658	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9573659	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][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	nsv949152	chr13:76211453-76366622	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832646	chr13:76300428-76483102	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	esv2758333	chr13:76321610-76542003	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	esv2759950	chr13:76321610-76542003	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7326714	TBC1D4	cis	cerebellum	SCAN

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76338800-76371000	Weak transcription	Fetal Thymus	thymus
2	chr13:76343400-76370800	Weak transcription	Primary T helper cells PMA-I stimulated	--
3	chr13:76350000-76371000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr13:76353400-76370600	Weak transcription	Primary T cells from cord blood	blood
5	chr13:76355600-76370800	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr13:76357000-76368400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr13:76358200-76370800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr13:76358200-76371400	Weak transcription	NHEK	skin
9	chr13:76360200-76364000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr13:76360200-76367000	Genic enhancers	Osteobl	bone
11	chr13:76361000-76364400	Enhancers	NHLF	lung
12	chr13:76361200-76364200	Enhancers	Rectal Mucosa Donor 31	rectum
13	chr13:76361400-76364000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr13:76361400-76364200	Enhancers	HepG2	liver
15	chr13:76361400-76364200	Enhancers	NH-A	brain
16	chr13:76361400-76364600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr13:76361400-76364600	Enhancers	Stomach Mucosa	stomach
18	chr13:76361400-76366400	Enhancers	Liver	Liver
19	chr13:76361600-76363800	Enhancers	Duodenum Mucosa	Duodenum
20	chr13:76361600-76364600	Enhancers	NHDF-Ad	bronchial
21	chr13:76361600-76397800	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr13:76361800-76364200	Enhancers	Fetal Intestine Large	intestine
23	chr13:76361800-76377400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr13:76362000-76364200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr13:76362000-76366000	Enhancers	Fetal Heart	heart
26	chr13:76362000-76366400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr13:76362000-76366400	Enhancers	A549	lung
28	chr13:76362000-76376600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr13:76362200-76364400	Enhancers	HUVEC	blood vessel
30	chr13:76362200-76364600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr13:76362200-76365800	Active TSS	HSMMtube	muscle
32	chr13:76362400-76364200	Enhancers	Right Atrium	heart
33	chr13:76362400-76364200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr13:76362400-76364600	Enhancers	Left Ventricle	heart
35	chr13:76362600-76364600	Enhancers	Gastric	stomach
36	chr13:76362600-76364800	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr13:76362600-76377000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr13:76362800-76363800	Enhancers	Pancreas	Pancrea
39	chr13:76362800-76364200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr13:76362800-76364200	Enhancers	Right Ventricle	heart
41	chr13:76362800-76364400	Enhancers	Aorta	Aorta
42	chr13:76362800-76364400	Enhancers	Lung	lung
43	chr13:76362800-76366400	Genic enhancers	Fetal Intestine Small	intestine
44	chr13:76363000-76364200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr13:76363000-76364600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr13:76363000-76364600	Enhancers	Psoas Muscle	Psoas
47	chr13:76363000-76364800	Flanking Active TSS	Fetal Muscle Leg	muscle
48	chr13:76363000-76364800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr13:76363000-76366000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr13:76363000-76377000	Weak transcription	GM12878-XiMat	blood

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