Variant report

Variant	rs2366920
Chromosome Location	chr2:179810904-179810905
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	chr2:179809785..179813560-chr2:179814171..179817287,4	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10204089	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10930842	0.85[YRI][hapmap]
rs10930844	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12464521	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12477346	0.82[CHB][hapmap]
rs13008198	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35233376	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35444808	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs36112235	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4894069	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6731864	0.82[CHB][hapmap]
rs6747791	1.00[CHB][hapmap]
rs6752606	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7564407	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949133	chr2:179711376-180124327	Flanking Active TSS ZNF genes & repeats Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv875455	chr2:179732845-179909467	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv583756	chr2:179758007-179843612	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1000545	chr2:179768359-179843612	ZNF genes & repeats Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv875456	chr2:179775893-179896787	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv875457	chr2:179775893-179966804	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv875458	chr2:179780624-179966804	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1011538	chr2:179803786-179862194	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs2366920	CCDC141	cis	parietal	SCAN
rs2366920	HOXD12	cis	cerebellum	SCAN
rs2366920	CCDC141	cis	cerebellum	SCAN
rs2366920	HOXD13	cis	cerebellum	SCAN
rs2366920	TTN	cis	parietal	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179770000-179848200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr2:179775600-179824200	Weak transcription	Left Ventricle	heart
3	chr2:179775600-179826400	Weak transcription	Pancreas	Pancrea
4	chr2:179794600-179822800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:179802800-179829400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:179803600-179827600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr2:179804000-179812200	Weak transcription	Fetal Muscle Leg	muscle
8	chr2:179804000-179831600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:179805600-179824200	Weak transcription	Primary B cells from cord blood	blood
10	chr2:179806800-179843600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr2:179807600-179812000	Weak transcription	Primary T cells from cord blood	blood
12	chr2:179809000-179815000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr2:179809400-179811200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr2:179809800-179812400	Enhancers	Fetal Heart	heart
15	chr2:179810200-179812600	Enhancers	HSMMtube	muscle
16	chr2:179810400-179819600	Weak transcription	Right Atrium	heart
17	chr2:179810600-179812600	Enhancers	HSMM	muscle
18	chr2:179810600-179824200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr2:179810800-179811800	Weak transcription	Right Ventricle	heart
20	chr2:179810800-179811800	Weak transcription	Skeletal Muscle Female	skeletal muscle

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