Variant report

Variant	rs55736020
Chromosome Location	chr2:11902212-11902213
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:11901357..11903016-chr2:11903554..11905723,2	MCF-7	breast:
2	chr2:11893238..11895926-chr2:11901659..11904630,2	MCF-7	breast:
3	chr2:11883702..11885372-chr2:11901343..11903845,2	K562	blood:
4	chr2:11886543..11888583-chr2:11902069..11904944,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000134324	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10183250	1.00[EUR][1000 genomes]
rs11886664	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11890221	1.00[EUR][1000 genomes]
rs11895768	1.00[EUR][1000 genomes]
rs13420559	1.00[EUR][1000 genomes]
rs13421766	1.00[EUR][1000 genomes]
rs13424731	1.00[EUR][1000 genomes]
rs16857699	1.00[EUR][1000 genomes]
rs56187608	0.83[AMR][1000 genomes]
rs56352405	1.00[EUR][1000 genomes]
rs56820808	1.00[EUR][1000 genomes]
rs57779431	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58686966	1.00[EUR][1000 genomes]
rs59101452	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59157966	1.00[EUR][1000 genomes]
rs59416046	1.00[EUR][1000 genomes]
rs59836200	1.00[EUR][1000 genomes]
rs61382095	1.00[EUR][1000 genomes]
rs61594850	0.83[AMR][1000 genomes]
rs6745921	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73185109	1.00[EUR][1000 genomes]
rs73915564	0.83[AMR][1000 genomes]
rs73917104	1.00[EUR][1000 genomes]
rs73917107	1.00[EUR][1000 genomes]
rs73917124	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73917127	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7562399	1.00[EUR][1000 genomes]
rs7585718	1.00[EUR][1000 genomes]
rs7602962	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11888400-11916400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:11890400-11906400	Weak transcription	Fetal Brain Male	brain
3	chr2:11890600-11905800	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:11891400-11903000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:11893800-11906400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:11894200-11903000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:11894600-11904600	Weak transcription	Fetal Intestine Small	intestine
8	chr2:11894800-11903000	Weak transcription	Aorta	Aorta
9	chr2:11894800-11903200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:11895000-11902600	Weak transcription	Right Ventricle	heart
11	chr2:11895000-11903000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:11895000-11903000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr2:11895000-11903000	Weak transcription	Esophagus	oesophagus
14	chr2:11895000-11903000	Weak transcription	Fetal Stomach	stomach
15	chr2:11895000-11903000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr2:11895000-11903200	Weak transcription	Fetal Muscle Leg	muscle
17	chr2:11895000-11903400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:11895000-11903600	Weak transcription	Liver	Liver
19	chr2:11895000-11904400	Weak transcription	Adipose Nuclei	Adipose
20	chr2:11895000-11904400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr2:11895000-11904400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr2:11895000-11904600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr2:11895000-11904600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr2:11895000-11904600	Weak transcription	Hela-S3	cervix
25	chr2:11895000-11905000	Weak transcription	Gastric	stomach
26	chr2:11895000-11905400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr2:11895000-11905800	Weak transcription	Brain Angular Gyrus	brain
28	chr2:11895000-11905800	Weak transcription	HSMMtube	muscle
29	chr2:11895000-11905800	Weak transcription	NH-A	brain
30	chr2:11895000-11905800	Weak transcription	Osteobl	bone
31	chr2:11895000-11906000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr2:11895000-11906200	Weak transcription	HSMM	muscle
33	chr2:11895000-11907000	Weak transcription	Colon Smooth Muscle	Colon
34	chr2:11895000-11918200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:11895200-11903800	Weak transcription	HMEC	breast
36	chr2:11895600-11903000	Weak transcription	Colonic Mucosa	Colon
37	chr2:11895600-11905600	Weak transcription	Duodenum Mucosa	Duodenum
38	chr2:11895800-11902800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:11895800-11903000	Weak transcription	Lung	lung
40	chr2:11895800-11904600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr2:11895800-11905600	Weak transcription	NHDF-Ad	bronchial
42	chr2:11895800-11905800	Weak transcription	Spleen	Spleen
43	chr2:11897400-11905600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:11897600-11903400	Weak transcription	Brain Hippocampus Middle	brain
45	chr2:11897600-11909000	Weak transcription	Psoas Muscle	Psoas
46	chr2:11897800-11902800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr2:11897800-11904400	Weak transcription	Primary B cells from cord blood	blood
48	chr2:11897800-11905000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr2:11898200-11903200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr2:11898200-11905000	Weak transcription	GM12878-XiMat	blood

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