Variant report

Variant	rs73279812
Chromosome Location	chr14:65348012-65348013
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:65343221-65348246	PBDE	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:65346776..65348701-chr14:65353935..65356642,2	K562	blood:
2	chr14:65344538..65346383-chr14:65347730..65349628,3	K562	blood:
3	chr14:65228067..65229645-chr14:65348002..65349763,2	K562	blood:
4	chr14:65346776..65351606-chr14:65355142..65358604,5	K562	blood:
5	chr14:65347011..65349276-chr14:65350145..65352997,3	MCF-7	breast:
6	chr14:64971440..64973382-chr14:65345698..65348415,2	MCF-7	breast:
7	chr14:65346800..65348898-chr14:65351625..65354536,2	K562	blood:
8	chr14:65347870..65349476-chr14:65380923..65383635,2	MCF-7	breast:

No data

Variant related genes	Relation type
SPTB	TF binding region
ENSG00000258289	Chromatin interaction
ENSG00000125954	Chromatin interaction
ENSG00000089775	Chromatin interaction
ENSG00000126804	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10121	0.86[ASN][1000 genomes]
rs11540871	0.86[ASN][1000 genomes]
rs17102258	0.82[EUR][1000 genomes]
rs17767870	0.82[EUR][1000 genomes]
rs17883073	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17883620	0.82[AFR][1000 genomes]
rs1957416	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2181127	0.82[EUR][1000 genomes]
rs230697	0.83[AFR][1000 genomes]
rs230715	0.82[EUR][1000 genomes]
rs230717	0.81[AFR][1000 genomes]
rs230718	0.82[EUR][1000 genomes]
rs230723	0.82[EUR][1000 genomes]
rs2649194	0.81[AFR][1000 genomes]
rs372933	0.82[EUR][1000 genomes]
rs375038	0.88[AFR][1000 genomes]
rs376295	0.81[AFR][1000 genomes]
rs380741	0.82[EUR][1000 genomes]
rs57319601	0.83[ASN][1000 genomes]
rs57674166	0.86[ASN][1000 genomes]
rs60454817	0.88[AFR][1000 genomes]
rs61012404	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61538903	0.83[ASN][1000 genomes]
rs62621845	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs66511472	0.80[EUR][1000 genomes]
rs66883381	0.80[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7144515	0.80[AFR][1000 genomes]
rs7144637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72625638	0.82[EUR][1000 genomes]
rs72625640	0.82[EUR][1000 genomes]
rs72625641	0.82[EUR][1000 genomes]
rs72625642	0.82[EUR][1000 genomes]
rs72625643	0.87[EUR][1000 genomes]
rs72625644	0.87[EUR][1000 genomes]
rs72625645	0.87[EUR][1000 genomes]
rs72625646	0.87[EUR][1000 genomes]
rs72625647	0.87[EUR][1000 genomes]
rs72625648	0.87[EUR][1000 genomes]
rs73279816	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73279823	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73279833	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73279834	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73279839	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73281764	0.83[ASN][1000 genomes]
rs73281765	0.86[ASN][1000 genomes]
rs8019346	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693408	chr14:65292670-65358576	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv516238	chr14:65327288-65358576	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv3693169	chr14:65344400-65381068	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3326676	chr14:65345624-65348172	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65345200-65348200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr14:65345800-65348200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
3	chr14:65347000-65348200	Bivalent/Poised TSS	NH-A	brain
4	chr14:65347600-65348200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
5	chr14:65347600-65348200	Bivalent Enhancer	Fetal Heart	heart
6	chr14:65347600-65348200	Flanking Active TSS	K562	blood
7	chr14:65347800-65348200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
8	chr14:65348000-65348200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
9	chr14:65348000-65348200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
10	chr14:65348000-65348200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr14:65348000-65348200	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr14:65348000-65348200	Bivalent/Poised TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr14:65348000-65348200	Bivalent Enhancer	Aorta	Aorta

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