Variant report

Variant	rs1535342
Chromosome Location	chr14:36983065-36983066
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	KAP1	chr14:36981500-36983160	HEK293	kidney:	n/a	chr14:36982297-36982305
2	SUZ12	chr14:36981170-36992861	NT2-D1	testis:	n/a	n/a
3	SUZ12	chr14:36981289-36984664	H1-hESC	embryonic stem cell:	n/a	n/a
4	EGR1	chr14:36982625-36983071	H1-hESC	embryonic stem cell:	n/a	chr14:36982838-36982851 chr14:36982838-36982848
5	CTBP2	chr14:36981433-36984746	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
SFTA3	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1005343	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1005354	1.00[ASN][1000 genomes]
rs1005355	1.00[ASN][1000 genomes]
rs10143437	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10431615	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10483474	1.00[ASN][1000 genomes]
rs1535340	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535341	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104778	1.00[ASN][1000 genomes]
rs17104780	1.00[ASN][1000 genomes]
rs17104802	1.00[ASN][1000 genomes]
rs177322	1.00[ASN][1000 genomes]
rs177325	1.00[ASN][1000 genomes]
rs1956966	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253957	1.00[ASN][1000 genomes]
rs735599	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs735708	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8004831	1.00[ASN][1000 genomes]
rs986876	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv1053685	chr14:36915643-37245920	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv917279	chr14:36953511-37146655	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36981200-36985200	Active TSS	Lung	lung
2	chr14:36981400-36991200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr14:36981600-36983200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:36982000-36984800	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
5	chr14:36982000-36985000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:36982200-36984400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr14:36982400-36983200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr14:36982400-36983800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:36982600-36983200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
10	chr14:36982600-36983600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
11	chr14:36982800-36983200	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
12	chr14:36982800-36983200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr14:36982800-36983400	Bivalent/Poised TSS	Right Ventricle	heart
14	chr14:36982800-36984000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr14:36982800-36985400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr14:36983000-36983200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:36983000-36983400	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr14:36983000-36983600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr14:36983000-36983600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
20	chr14:36983000-36984200	Bivalent Enhancer	H9 Cell Line	embryonic stem cell

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