Variant report

Variant	rs2296146
Chromosome Location	chr13:76143572-76143573
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	chr13:76143405..76146053-chr13:76147700..76149492,2	K562	blood:

Extended variants
information (count: 77 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs12427755	0.88[ASN][1000 genomes]
rs12427931	0.88[ASN][1000 genomes]
rs12428989	0.88[ASN][1000 genomes]
rs1535724	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2031236	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.84[JPT][hapmap];0.92[LWK][hapmap];0.94[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2328959	0.90[ASN][1000 genomes]
rs2328960	0.94[ASN][1000 genomes]
rs2328963	0.82[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.96[ASN][1000 genomes]
rs2328964	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2876706	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3783028	0.83[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.96[ASN][1000 genomes]
rs3818355	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];0.83[MEX][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4611344	0.83[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.96[ASN][1000 genomes]
rs4643195	0.82[CHD][hapmap]
rs4885308	0.81[CHB][hapmap]
rs4885318	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4885322	0.83[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.84[JPT][hapmap];0.85[MEX][hapmap];0.96[ASN][1000 genomes]
rs4885323	0.83[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.96[ASN][1000 genomes]
rs4885324	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55777620	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55927305	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6562912	0.92[JPT][hapmap]
rs6562913	0.96[ASN][1000 genomes]
rs6562914	0.96[ASN][1000 genomes]
rs6562915	0.83[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.96[GIH][hapmap];0.84[JPT][hapmap];0.85[MEX][hapmap];0.96[ASN][1000 genomes]
rs6562916	0.83[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.96[ASN][1000 genomes]
rs6562918	0.96[ASN][1000 genomes]
rs7139740	0.96[ASN][1000 genomes]
rs7317250	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];0.84[JPT][hapmap];0.96[ASN][1000 genomes]
rs73223968	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73223984	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7324195	0.81[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.92[ASN][1000 genomes]
rs7329512	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7339146	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7981698	0.88[ASN][1000 genomes]
rs7982517	0.83[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];0.95[ASN][1000 genomes]
rs7986566	0.92[ASN][1000 genomes]
rs7989568	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7996884	0.83[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.96[ASN][1000 genomes]
rs8192755	0.96[ASN][1000 genomes]
rs8192756	0.96[ASN][1000 genomes]
rs8192762	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8192763	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8192764	0.96[ASN][1000 genomes]
rs9318361	0.96[ASN][1000 genomes]
rs9530447	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9543957	0.81[CHB][hapmap]
rs9543972	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9543976	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.85[MEX][hapmap];0.94[TSI][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9543990	0.83[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.96[ASN][1000 genomes]
rs9543992	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9544004	0.92[ASN][1000 genomes]
rs9565177	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9573577	0.81[CHB][hapmap]
rs9573578	0.81[CHB][hapmap];0.82[CHD][hapmap]
rs9573591	0.92[ASN][1000 genomes]
rs9573592	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs974373	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv900562	chr13:76072743-76176680	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv900563	chr13:76093935-76169347	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv900564	chr13:76100090-76156136	Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv900565	chr13:76111280-76169347	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv900566	chr13:76123678-76153748	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv900567	chr13:76123678-76156136	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv900568	chr13:76123678-76159104	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv900569	chr13:76123678-76167433	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv900570	chr13:76123678-76176680	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv900571	chr13:76123678-76207565	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
12	nsv900572	chr13:76130761-76156136	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv900573	chr13:76130761-76159104	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv562347	chr13:76132240-76153415	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv900574	chr13:76132484-76156136	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv900575	chr13:76132484-76159104	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	nsv900576	chr13:76132484-76176680	ZNF genes & repeats Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv900577	chr13:76132484-76207565	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
19	nsv900578	chr13:76136976-76167433	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2296146	UCHL3	cis	parietal	SCAN
rs2296146	UCHL3	cis	cerebellum	SCAN
rs2296146	RP11-173B14.5	cis	Artery Tibial	GTEx
rs2296146	SLAIN1	cis	parietal	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76124600-76183000	Weak transcription	Small Intestine	intestine
2	chr13:76124800-76146400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr13:76124800-76146600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr13:76124800-76146600	Weak transcription	Lung	lung
5	chr13:76124800-76147600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr13:76124800-76164000	Weak transcription	Spleen	Spleen
7	chr13:76124800-76167600	Weak transcription	Gastric	stomach
8	chr13:76124800-76170600	Weak transcription	Colonic Mucosa	Colon
9	chr13:76125000-76147600	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr13:76125000-76156200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr13:76125000-76158000	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr13:76125000-76192800	Weak transcription	Brain Substantia Nigra	brain
13	chr13:76125000-76209600	Weak transcription	Right Ventricle	heart
14	chr13:76125200-76147200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr13:76125200-76147200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr13:76125200-76147600	Weak transcription	Brain Angular Gyrus	brain
17	chr13:76125200-76173800	Weak transcription	Fetal Heart	heart
18	chr13:76125200-76177800	Weak transcription	Stomach Mucosa	stomach
19	chr13:76125400-76147000	Weak transcription	Brain Germinal Matrix	brain
20	chr13:76125400-76147600	Weak transcription	Brain Anterior Caudate	brain
21	chr13:76125400-76191000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr13:76125600-76158000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr13:76125600-76182000	Weak transcription	Fetal Brain Male	brain
24	chr13:76128200-76143800	Weak transcription	NHLF	lung
25	chr13:76129400-76143800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr13:76129400-76145000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr13:76129400-76145800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr13:76129400-76147200	Weak transcription	Aorta	Aorta
29	chr13:76129400-76147200	Weak transcription	Left Ventricle	heart
30	chr13:76129400-76147600	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr13:76129400-76151400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr13:76129400-76158000	Weak transcription	Fetal Kidney	kidney
33	chr13:76129400-76180400	Weak transcription	Thymus	Thymus
34	chr13:76129600-76143600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr13:76129600-76143600	Weak transcription	Skeletal Muscle Female	skeletal muscle
36	chr13:76129600-76144000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr13:76129600-76145000	Weak transcription	HSMMtube	muscle
38	chr13:76129600-76157800	Weak transcription	Fetal Brain Female	brain
39	chr13:76129600-76158000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr13:76129600-76158000	Weak transcription	Esophagus	oesophagus
41	chr13:76129600-76164000	Weak transcription	Ovary	ovary
42	chr13:76130400-76164200	Weak transcription	K562	blood
43	chr13:76133000-76158000	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr13:76133200-76158000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr13:76133800-76147400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr13:76134600-76150200	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr13:76134800-76149800	Strong transcription	Primary T helper cells fromperipheralblood	blood
48	chr13:76135400-76147600	Weak transcription	Psoas Muscle	Psoas
49	chr13:76135400-76164000	Weak transcription	Pancreas	Pancrea
50	chr13:76136000-76150200	Strong transcription	Primary T helper cells PMA-I stimulated	--

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