Variant report

Variant	rs2924264
Chromosome Location	chr10:4891221-4891222
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:4865557..4869749-chr10:4889417..4893452,5	K562	blood:
2	chr10:4869791..4871610-chr10:4890458..4893097,2	K562	blood:
3	chr10:4875020..4877542-chr10:4888519..4891413,3	MCF-7	breast:
4	chr10:4857664..4858243-chr10:4890593..4891221,2	MCF-7	breast:
5	chr10:4891149..4892494-chr10:5136639..5137645,6	MCF-7	breast:
6	chr10:4867172..4869559-chr10:4889733..4891364,2	MCF-7	breast:
7	chr10:4890480..4892072-chr10:4898141..4900833,2	K562	blood:
8	chr10:4887846..4890181-chr10:4890997..4893869,2	MCF-7	breast:
9	chr10:4889478..4893997-chr10:4907910..4911141,5	K562	blood:
10	chr10:4889582..4893055-chr10:5488577..5492028,3	K562	blood:
11	chr10:4889601..4892561-chr10:4898786..4902485,4	K562	blood:
12	chr10:4886550..4889346-chr10:4889579..4891812,3	K562	blood:
13	chr10:4868225..4872491-chr10:4887658..4893097,7	K562	blood:
14	chr10:4881735..4884422-chr10:4890525..4893210,2	K562	blood:
15	chr10:4889192..4892732-chr10:4894446..4896505,3	K562	blood:
16	chr10:4889346..4893055-chr10:5487931..5492462,5	K562	blood:
17	chr10:4890255..4892293-chr10:5502028..5504599,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173848	Chromatin interaction
ENSG00000165568	Chromatin interaction

Extended variants
information (count: 84 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10736992	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1078063	0.97[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs10795203	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10795204	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10904352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10904354	0.81[AMR][1000 genomes]
rs10904355	0.81[AMR][1000 genomes]
rs10904356	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10904368	0.92[ASW][hapmap];0.81[GIH][hapmap]
rs11252777	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11252779	0.96[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11252780	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11252781	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11252782	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11252784	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11252785	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11252786	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11252787	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11252788	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11252789	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11252790	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11252794	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11252795	0.85[EUR][1000 genomes]
rs11528590	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12761251	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12761278	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12778158	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12779835	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12779887	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12780592	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1869218	0.92[ASW][hapmap];0.85[GIH][hapmap];0.95[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1869221	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1901644	0.92[ASW][hapmap];0.81[GIH][hapmap];0.95[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs1993181	0.92[ASW][hapmap];0.85[GIH][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2123353	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2123354	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2167703	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2397981	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2397984	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2924265	0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2924267	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2961568	1.00[YRI][hapmap];0.95[AFR][1000 genomes]
rs2961571	0.94[YRI][hapmap];0.95[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2961576	0.85[ASW][hapmap];0.81[GIH][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2961578	0.92[ASW][hapmap];0.85[GIH][hapmap];0.95[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2961581	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2961586	1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2961589	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2961591	1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs2961592	1.00[CEU][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2961593	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2961596	0.95[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3110959	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs35035905	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35588485	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4268414	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4357596	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4359096	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4385791	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4405202	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4405203	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4537666	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4565807	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4881354	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4881358	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4881359	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4881360	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4881361	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4881362	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4881364	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7067785	0.92[ASW][hapmap];0.85[GIH][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7076172	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7084200	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7088294	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7089338	0.81[GIH][hapmap];0.82[MEX][hapmap]
rs7091514	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7099392	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7894644	0.85[ASW][hapmap];0.81[GIH][hapmap];0.82[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv894792	chr10:4832920-5498724	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv948794	chr10:4863093-5227382	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv1045155	chr10:4872239-5211318	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv1040343	chr10:4872814-5196815	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	nsv540462	chr10:4872814-5196815	Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
6	nsv869470	chr10:4878904-5203685	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2924264	ANKRD16	cis	cerebellum	SCAN

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:4869200-4891600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr10:4869200-4892200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:4869400-4891600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr10:4870600-4891800	Weak transcription	Fetal Brain Male	brain
5	chr10:4872600-4892400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr10:4874600-4891800	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr10:4876000-4891600	Weak transcription	Brain Angular Gyrus	brain
8	chr10:4878000-4891800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr10:4878600-4894600	Weak transcription	Ovary	ovary
10	chr10:4878800-4891800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr10:4878800-4891800	Weak transcription	Fetal Kidney	kidney
12	chr10:4879200-4891600	Weak transcription	Colon Smooth Muscle	Colon
13	chr10:4879400-4891800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr10:4879800-4891800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr10:4879800-4891800	Weak transcription	Lung	lung
16	chr10:4880000-4891800	Weak transcription	Fetal Lung	lung
17	chr10:4880000-4891800	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr10:4880200-4891400	Weak transcription	Fetal Intestine Small	intestine
19	chr10:4880200-4894400	Weak transcription	Brain Germinal Matrix	brain
20	chr10:4880600-4891600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr10:4880800-4891800	Weak transcription	Primary T helper cells fromperipheralblood	blood
22	chr10:4881200-4891800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr10:4885800-4891600	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr10:4886000-4891600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr10:4886000-4891800	Weak transcription	Aorta	Aorta
26	chr10:4886000-4891800	Weak transcription	Gastric	stomach
27	chr10:4886000-4891800	Weak transcription	Pancreas	Pancrea
28	chr10:4886000-4909800	Weak transcription	Left Ventricle	heart
29	chr10:4886200-4891600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr10:4886200-4891600	Weak transcription	Fetal Brain Female	brain
31	chr10:4886400-4891600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr10:4886400-4891800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr10:4887600-4891800	Weak transcription	Fetal Intestine Large	intestine
34	chr10:4887600-4891800	Weak transcription	Right Ventricle	heart
35	chr10:4888000-4891400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr10:4888000-4896000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr10:4888400-4896800	Weak transcription	Spleen	Spleen
38	chr10:4888600-4895000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr10:4889000-4892200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr10:4889000-4892600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr10:4889200-4892200	Enhancers	Muscle Satellite Cultured Cells	--
42	chr10:4889200-4892400	Enhancers	NHLF	lung
43	chr10:4889200-4892600	Enhancers	HUVEC	blood vessel
44	chr10:4889200-4892800	Enhancers	NHDF-Ad	bronchial
45	chr10:4889400-4892200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr10:4889400-4892200	Enhancers	Osteobl	bone
47	chr10:4889400-4894000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr10:4889600-4891800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr10:4889600-4892400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr10:4889600-4892600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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