Variant report

Variant	rs3809435
Chromosome Location	chr14:37052632-37052633
allele	A/G
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	CTBP2	chr14:37051980-37054092	H1-hESC	embryonic stem cell:	n/a	n/a
2	SUZ12	chr14:37048394-37054757	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:37051690..37053277-chr14:37640298..37642030,2	K562	blood:

Variant related genes	Relation type
NKX2-8	TF binding region
ENSG00000258708	Chromatin interaction
ENSG00000183032	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12433344	0.88[EUR][1000 genomes]
rs12433775	1.00[YRI][hapmap]
rs17104628	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17104630	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs17104784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3809438	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809439	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012101	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	nsv949612	chr14:36996206-37121633	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	esv32575	chr14:37047629-37052658	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37048000-37054800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:37050400-37052800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr14:37050800-37052800	Bivalent Enhancer	Left Ventricle	heart
4	chr14:37050800-37053800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
5	chr14:37051600-37053400	Bivalent Enhancer	Fetal Stomach	stomach
6	chr14:37051800-37052800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:37051800-37052800	Enhancers	Pancreas	Pancrea
8	chr14:37051800-37053000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr14:37051800-37053000	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:37051800-37053200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:37052000-37052800	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr14:37052200-37052800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
13	chr14:37052200-37052800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
14	chr14:37052200-37053200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
15	chr14:37052200-37053400	Bivalent Enhancer	Lung	lung
16	chr14:37052200-37053800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:37052400-37052800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr14:37052400-37052800	Bivalent Enhancer	Brain Anterior Caudate	brain
19	chr14:37052400-37052800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
20	chr14:37052400-37052800	Bivalent Enhancer	Esophagus	oesophagus
21	chr14:37052600-37052800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:37052600-37052800	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:37052600-37052800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
24	chr14:37052600-37052800	Bivalent Enhancer	Brain Substantia Nigra	brain
25	chr14:37052600-37052800	Bivalent Enhancer	Psoas Muscle	Psoas
26	chr14:37052600-37052800	Flanking Bivalent TSS/Enh	Right Ventricle	heart
27	chr14:37052600-37052800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
28	chr14:37052600-37053000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
29	chr14:37052600-37053400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell

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