Variant report

Variant	rs8033816
Chromosome Location	chr15:62233167-62233168
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	chr15:62231542..62233712-chr15:62238622..62240411,2	K562	blood:

Extended variants
information (count: 106 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs1000598	0.81[YRI][hapmap]
rs10468027	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs10851704	0.83[CHB][hapmap];0.81[CHD][hapmap]
rs10851705	0.83[CHB][hapmap];0.86[JPT][hapmap]
rs11071634	0.83[CHB][hapmap];0.82[CHD][hapmap];0.83[JPT][hapmap]
rs11071639	0.81[ASN][1000 genomes]
rs11630347	0.86[ASN][1000 genomes]
rs11631013	0.83[CHB][hapmap];0.86[JPT][hapmap];0.92[YRI][hapmap];0.81[AFR][1000 genomes]
rs11632842	0.83[JPT][hapmap]
rs11635569	0.82[EUR][1000 genomes]
rs11639147	0.86[ASN][1000 genomes]
rs12438431	0.82[CHB][hapmap];0.83[JPT][hapmap];0.92[YRI][hapmap]
rs12439934	0.92[CEU][hapmap];0.82[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12442675	0.86[GIH][hapmap]
rs12593844	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12593860	0.81[ASN][1000 genomes]
rs12708468	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs12898209	0.83[CHB][hapmap];0.80[CHD][hapmap];0.83[JPT][hapmap]
rs12899801	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12901247	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12901575	0.86[CHB][hapmap];0.83[JPT][hapmap]
rs12908182	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12909947	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12910541	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12912208	0.82[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[MEX][hapmap];0.85[ASN][1000 genomes]
rs13379947	0.81[TSI][hapmap]
rs1346035	0.88[ASN][1000 genomes]
rs1346037	0.88[ASN][1000 genomes]
rs1370177	0.83[CHB][hapmap];0.81[CHD][hapmap];0.83[JPT][hapmap]
rs1436958	0.89[GIH][hapmap]
rs1436965	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs1436966	0.82[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.81[TSI][hapmap];0.86[ASN][1000 genomes]
rs1561197	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs17271151	0.88[YRI][hapmap]
rs17271158	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs17271235	0.82[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs17303968	0.82[CEU][hapmap];0.82[JPT][hapmap]
rs17304010	0.82[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs1981916	0.83[TSI][hapmap]
rs1991205	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs2042608	0.96[CEU][hapmap];0.83[CHB][hapmap];0.95[JPT][hapmap];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2162064	0.82[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs2241491	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs2414755	0.83[TSI][hapmap]
rs28373613	0.82[EUR][1000 genomes]
rs28472272	0.81[ASN][1000 genomes]
rs28587331	0.80[ASN][1000 genomes]
rs28591222	0.81[ASN][1000 genomes]
rs28725250	0.81[ASN][1000 genomes]
rs3210522	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs3886246	0.83[JPT][hapmap]
rs4372632	0.82[CHB][hapmap];0.85[JPT][hapmap]
rs4587915	0.84[TSI][hapmap]
rs4638519	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs4774425	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs4775442	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs4775444	0.83[JPT][hapmap]
rs4775445	0.83[CHB][hapmap];0.83[JPT][hapmap];0.90[LWK][hapmap];0.88[YRI][hapmap]
rs4775447	0.83[CHB][hapmap];0.81[CHD][hapmap];0.83[JPT][hapmap]
rs6494300	0.90[JPT][hapmap]
rs7161883	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs7163326	0.83[CHB][hapmap];0.81[CHD][hapmap];0.83[JPT][hapmap]
rs7163441	0.82[CHB][hapmap];0.80[CHD][hapmap];0.81[JPT][hapmap]
rs7164933	0.83[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs7166891	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs7168164	0.82[CHB][hapmap];0.81[CHD][hapmap];0.82[JPT][hapmap]
rs7170293	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs7172145	0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs7178540	0.91[GIH][hapmap]
rs731820	0.89[GIH][hapmap]
rs8023668	0.90[JPT][hapmap]
rs8029942	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.85[ASN][1000 genomes]
rs8032433	0.89[GIH][hapmap]
rs8037603	0.82[JPT][hapmap]
rs8038328	0.82[CEU][hapmap]
rs8039651	0.91[GIH][hapmap];0.85[YRI][hapmap]
rs933807	0.91[GIH][hapmap]
rs963024	0.85[CEU][hapmap];0.91[TSI][hapmap];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904284	chr15:62123600-62243197	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv521334	chr15:62129809-62340126	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv527451	chr15:62129809-62340126	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv904285	chr15:62146598-62246864	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv904286	chr15:62146598-62313373	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv904287	chr15:62146598-62338797	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv904288	chr15:62146598-62356386	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	nsv569641	chr15:62155282-62287456	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
9	nsv904289	chr15:62156690-62287456	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
10	nsv516639	chr15:62175134-62340126	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv904290	chr15:62175134-62356386	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
12	nsv569642	chr15:62178695-62243197	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv904291	chr15:62178695-62287456	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv904292	chr15:62178695-62313373	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
15	nsv904293	chr15:62178695-62338797	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
16	nsv904294	chr15:62178695-62356386	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
17	nsv457176	chr15:62178695-62519658	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
18	nsv569643	chr15:62178695-62519658	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
19	nsv904295	chr15:62198564-62259637	Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
20	nsv904296	chr15:62198564-62313373	ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
21	nsv471247	chr15:62202481-62519658	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
22	nsv569644	chr15:62202482-62247067	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
23	nsv904297	chr15:62202482-62313373	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
24	nsv569645	chr15:62202482-62319307	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
25	nsv569646	chr15:62202482-62519658	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
26	esv1816724	chr15:62205104-62285146	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
27	nsv569647	chr15:62214607-62284101	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
28	nsv904298	chr15:62218689-62338797	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8033816	TPM1	cis	cerebellum	SCAN
rs8033816	VPS13C	cis	cerebellum	SCAN

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:62142400-62253000	Weak transcription	Spleen	Spleen
2	chr15:62143800-62235600	Weak transcription	Fetal Brain Male	brain
3	chr15:62150000-62276200	Weak transcription	Psoas Muscle	Psoas
4	chr15:62184600-62236800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr15:62185600-62262200	Weak transcription	Gastric	stomach
6	chr15:62185600-62333600	Weak transcription	Right Ventricle	heart
7	chr15:62185800-62300000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr15:62187200-62246000	Weak transcription	A549	lung
9	chr15:62188600-62309400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr15:62194600-62235400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr15:62194600-62266800	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr15:62195400-62234200	Strong transcription	Primary B cells from peripheral blood	blood
13	chr15:62195400-62235800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr15:62195600-62285400	Strong transcription	Primary monocytes fromperipheralblood	blood
15	chr15:62197000-62236200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr15:62205000-62236600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr15:62206600-62242600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr15:62207800-62263200	Weak transcription	Fetal Brain Female	brain
19	chr15:62208200-62263200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr15:62208200-62290200	Weak transcription	Aorta	Aorta
21	chr15:62208400-62253200	Weak transcription	Thymus	Thymus
22	chr15:62208600-62236800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr15:62209800-62236200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr15:62209800-62236600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr15:62209800-62236600	Weak transcription	Lung	lung
26	chr15:62209800-62236600	Weak transcription	Ovary	ovary
27	chr15:62209800-62250600	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr15:62209800-62252400	Weak transcription	Brain Cingulate Gyrus	brain
29	chr15:62210000-62237000	Weak transcription	Colonic Mucosa	Colon
30	chr15:62210000-62242800	Weak transcription	Brain Substantia Nigra	brain
31	chr15:62214400-62239600	Weak transcription	Brain Hippocampus Middle	brain
32	chr15:62214800-62236200	Weak transcription	Brain Angular Gyrus	brain
33	chr15:62214800-62240200	Weak transcription	HMEC	breast
34	chr15:62214800-62250800	Weak transcription	NH-A	brain
35	chr15:62214800-62253600	Weak transcription	HepG2	liver
36	chr15:62214800-62265600	Weak transcription	Fetal Kidney	kidney
37	chr15:62215000-62236600	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr15:62219400-62236800	Weak transcription	Skeletal Muscle Male	skeletal muscle
39	chr15:62219600-62253000	Weak transcription	Fetal Intestine Small	intestine
40	chr15:62220600-62238400	Strong transcription	Primary B cells from cord blood	blood
41	chr15:62221200-62236200	Weak transcription	Rectal Smooth Muscle	rectum
42	chr15:62221400-62235800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr15:62221400-62236600	Weak transcription	Osteobl	bone
44	chr15:62221400-62327600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr15:62221600-62239200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr15:62221600-62244400	Weak transcription	Small Intestine	intestine
47	chr15:62221600-62245800	Weak transcription	Fetal Thymus	thymus
48	chr15:62221600-62253000	Weak transcription	Fetal Stomach	stomach
49	chr15:62221800-62234000	Weak transcription	Fetal Muscle Leg	muscle
50	chr15:62221800-62239200	Weak transcription	NHLF	lung

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