Variant report

Variant	rs2207412
Chromosome Location	chr20:11177529-11177530
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs1013499	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1884163	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1884164	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2207101	0.98[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4813965	0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6033055	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6040429	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6040430	0.98[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs6078099	0.96[ASN][1000 genomes]
rs6104721	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6108864	0.84[CHB][hapmap];0.86[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065969	chr20:10850562-11464172	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv544181	chr20:10850562-11464172	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv585415	chr20:11134907-11383327	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv585416	chr20:11156775-11190087	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv1056067	chr20:11174581-11213919	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:11175400-11177600	Enhancers	Fetal Heart	heart
2	chr20:11175600-11177600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr20:11175800-11177600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr20:11175800-11178000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr20:11176000-11177800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr20:11176200-11177600	Enhancers	Osteobl	bone
7	chr20:11176200-11178200	Enhancers	HMEC	breast
8	chr20:11176400-11177600	Enhancers	HSMM	muscle
9	chr20:11176400-11177600	Enhancers	HUVEC	blood vessel
10	chr20:11176400-11177600	Enhancers	NH-A	brain
11	chr20:11176400-11177600	Flanking Active TSS	NHEK	skin
12	chr20:11176400-11178200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr20:11176600-11177600	Enhancers	Lung	lung
14	chr20:11176600-11180200	Weak transcription	Duodenum Mucosa	Duodenum
15	chr20:11176800-11177600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr20:11176800-11177600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr20:11176800-11177600	Enhancers	Left Ventricle	heart
18	chr20:11176800-11179800	Weak transcription	Small Intestine	intestine
19	chr20:11177000-11177600	Enhancers	GM12878-XiMat	blood
20	chr20:11177000-11177800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr20:11177000-11177800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr20:11177000-11179800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr20:11177200-11177600	Enhancers	Placenta Amnion	Placenta Amnion
24	chr20:11177200-11179800	Weak transcription	Fetal Intestine Large	intestine
25	chr20:11177200-11180200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr20:11177400-11178200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr20:11177400-11179800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr20:11177400-11180000	Weak transcription	Fetal Intestine Small	intestine
29	chr20:11177400-11180000	Weak transcription	Spleen	Spleen
30	chr20:11177400-11180200	Weak transcription	Right Ventricle	heart
31	chr20:11177400-11185400	Weak transcription	A549	lung

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