Variant report

Variant	rs13410455
Chromosome Location	chr2:184023295-184023296
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:184019137..184020799-chr2:184022946..184025022,2	K562	blood:
2	chr2:184015191..184017995-chr2:184020754..184023549,2	K562	blood:
3	chr2:184022891..184025672-chr2:184035459..184037994,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10153562	0.88[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10168255	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10168331	0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10172947	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10183843	0.91[ASN][1000 genomes]
rs10184666	0.95[ASN][1000 genomes]
rs10497622	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11691085	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13414878	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13420955	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2368384	0.95[ASN][1000 genomes]
rs2368385	0.95[ASN][1000 genomes]
rs35424610	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6434004	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6733251	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6733594	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6739299	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6741334	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7607102	1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1005281	chr2:183803173-184093877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv875485	chr2:183827018-184195265	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv1010799	chr2:183855680-184244721	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv536072	chr2:183855680-184244721	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	esv2763287	chr2:183939173-184037893	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats 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	9 gene(s)	inside rSNPs	diseases
7	nsv875486	chr2:184016627-184095979	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs13410455	PDE1A	cis	parietal	SCAN
rs13410455	DNAJC10	cis	parietal	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183990000-184024400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:183990000-184050000	Weak transcription	Aorta	Aorta
3	chr2:183990200-184036400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:183990600-184028600	Weak transcription	Colonic Mucosa	Colon
5	chr2:183990800-184025800	Weak transcription	Fetal Kidney	kidney
6	chr2:183990800-184031000	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr2:183991000-184028600	Weak transcription	Right Ventricle	heart
8	chr2:183991000-184030400	Weak transcription	Brain Hippocampus Middle	brain
9	chr2:183991000-184048400	Weak transcription	Brain Angular Gyrus	brain
10	chr2:183991000-184053400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:183991000-184055400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr2:183991200-184035400	Weak transcription	Fetal Brain Male	brain
13	chr2:183991400-184034000	Weak transcription	NHLF	lung
14	chr2:183991400-184049600	Weak transcription	NHDF-Ad	bronchial
15	chr2:183991600-184029600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr2:183992400-184047600	Weak transcription	Hela-S3	cervix
17	chr2:183995200-184026000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:183996000-184026400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:183996400-184025800	Weak transcription	Stomach Smooth Muscle	stomach
20	chr2:184005000-184025200	Weak transcription	Left Ventricle	heart
21	chr2:184009000-184023600	Weak transcription	HMEC	breast
22	chr2:184009000-184028600	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr2:184009000-184043800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:184009200-184024200	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr2:184009200-184024200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:184009200-184025000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr2:184009200-184025200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr2:184009200-184025600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr2:184009200-184025800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr2:184009200-184028400	Weak transcription	Brain Anterior Caudate	brain
31	chr2:184009200-184034000	Weak transcription	Esophagus	oesophagus
32	chr2:184009200-184043600	Weak transcription	Psoas Muscle	Psoas
33	chr2:184009200-184048400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr2:184009400-184024200	Weak transcription	NH-A	brain
35	chr2:184009400-184047200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr2:184013800-184025800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr2:184014200-184031400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:184014400-184025200	Weak transcription	Colon Smooth Muscle	Colon
39	chr2:184014600-184024400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:184014600-184030800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr2:184015000-184028800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:184015000-184029000	Weak transcription	HSMMtube	muscle
43	chr2:184015000-184062000	Weak transcription	Small Intestine	intestine
44	chr2:184015200-184028000	Weak transcription	Fetal Heart	heart
45	chr2:184015400-184027400	Weak transcription	Osteobl	bone
46	chr2:184016000-184030400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr2:184016200-184030800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr2:184016600-184028200	Weak transcription	HUVEC	blood vessel
49	chr2:184016600-184028800	Weak transcription	Spleen	Spleen
50	chr2:184016800-184026600	Weak transcription	NHEK	skin

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