Variant report

Variant	rs13009294
Chromosome Location	chr2:113552678-113552679
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:113520231..113523321-chr2:113551800..113554508,3	K562	blood:
2	chr2:113533014..113535192-chr2:113549510..113553376,4	K562	blood:
3	chr2:113551891..113553444-chr2:113640902..113642411,2	K562	blood:
4	chr2:113542127..113543876-chr2:113551116..113552933,2	K562	blood:

Variant related genes	Relation type
ENSG00000169607	Chromatin interaction
ENSG00000115008	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10165537	0.82[CHB][hapmap]
rs10167914	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10193063	0.82[CHB][hapmap]
rs10200192	0.82[CHB][hapmap]
rs10496444	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10496445	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11676014	0.95[ASN][1000 genomes]
rs11687624	0.98[ASN][1000 genomes]
rs12471565	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12478842	0.96[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12612788	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12622683	0.81[CHB][hapmap]
rs12711741	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13000462	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13013602	0.82[CHB][hapmap]
rs13015273	0.90[CHB][hapmap]
rs13016817	0.90[CHB][hapmap]
rs13019249	0.84[CHB][hapmap]
rs13026263	0.81[CHB][hapmap]
rs13027814	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1533463	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1609682	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17649681	0.82[CHB][hapmap]
rs1969294	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2071373	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2071376	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3783512	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3783513	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3783516	0.81[CHB][hapmap]
rs3783521	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3783525	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3783526	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3783533	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3783539	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3783543	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3783546	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.90[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3783550	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.84[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3811040	0.81[CHB][hapmap]
rs4402765	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4848298	0.81[CHB][hapmap]
rs4848301	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4848302	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6542095	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.89[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6706663	0.81[CHB][hapmap]
rs6712572	0.82[CHB][hapmap]
rs6721044	0.82[CHB][hapmap]
rs6746923	0.81[CHB][hapmap]
rs6753803	0.81[CHB][hapmap]
rs7369378	0.95[ASN][1000 genomes]
rs74182856	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7567619	0.95[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap]
rs7577241	0.81[CHB][hapmap]
rs908551	0.81[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428724	chr2:113376894-113555421	Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1010106	chr2:113394981-113556071	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113542400-113559200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:113543000-113562200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:113548000-113554800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:113548400-113553800	Enhancers	Placenta	Placenta
5	chr2:113548600-113554400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr2:113549200-113553800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:113549400-113553200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr2:113549400-113555200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:113549800-113553200	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:113550400-113554400	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr2:113550400-113554400	Enhancers	HMEC	breast
12	chr2:113550600-113552800	Enhancers	HUVEC	blood vessel
13	chr2:113550600-113553800	Enhancers	Fetal Lung	lung
14	chr2:113550600-113554400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:113550600-113554400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr2:113550800-113552800	Enhancers	Spleen	Spleen
17	chr2:113550800-113553000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:113550800-113553800	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:113550800-113554400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:113550800-113554400	Enhancers	Placenta Amnion	Placenta Amnion
21	chr2:113551000-113552800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr2:113551000-113552800	Enhancers	Adipose Nuclei	Adipose
23	chr2:113551200-113552800	Enhancers	Osteobl	bone
24	chr2:113551200-113553400	Enhancers	Fetal Intestine Small	intestine
25	chr2:113551600-113552800	Flanking Active TSS	K562	blood
26	chr2:113551600-113553800	Enhancers	Primary hematopoietic stem cells	blood
27	chr2:113551800-113552800	Enhancers	Pancreas	Pancrea
28	chr2:113551800-113552800	Enhancers	Right Atrium	heart
29	chr2:113551800-113553000	Enhancers	Duodenum Mucosa	Duodenum
30	chr2:113551800-113553600	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr2:113551800-113553800	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr2:113552000-113553800	Enhancers	GM12878-XiMat	blood
33	chr2:113552400-113552800	Enhancers	Fetal Heart	heart
34	chr2:113552400-113552800	Enhancers	Left Ventricle	heart
35	chr2:113552400-113552800	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr2:113552400-113552800	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr2:113552400-113552800	Flanking Active TSS	Hela-S3	cervix
38	chr2:113552400-113552800	Flanking Active TSS	NHEK	skin
39	chr2:113552400-113553400	Enhancers	Stomach Mucosa	stomach
40	chr2:113552400-113553600	Enhancers	Esophagus	oesophagus
41	chr2:113552400-113553800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr2:113552600-113553600	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr2:113552600-113553800	Enhancers	Primary neutrophils fromperipheralblood	blood

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