Variant report

Variant	rs3809438
Chromosome Location	chr14:37053331-37053332
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

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

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:37053331-37053381	Hepatocyte	liver:	n/a
2	chr14:37053331-37053381	HEK293	kidney:	embryo
3	chr14:37053331-37053381	Caco-2	colon:	n/a
4	chr14:37053331-37053381	LNCaP	prostate:	n/a
5	chr14:37053331-37053381	AG09309	skin:	n/a
6	chr14:37053331-37053381	IMR90	lung:	fetal
7	chr14:37053331-37053381	HPAEpiC	pulmonary alveolar:	n/a
8	chr14:37053331-37053381	ProgFib	skin:	n/a
9	chr14:37053331-37053381	NH-A	brain:	n/a
10	chr14:37053331-37053381	PFSK-1	brain:	n/a
11	chr14:37053331-37053381	HRCEpiC	kidney:	n/a
12	chr14:37053331-37053381	HCPEpiC	choroid plexus:	n/a
13	chr14:37053331-37053381	GM19239	blood:	n/a
14	chr14:37053331-37053381	CMK	blood:	n/a
15	chr14:37053331-37053381	HNPCEpiC	eye:	n/a
16	chr14:37053331-37053381	HMEC	breast:	n/a
17	chr14:37053331-37053381	HL-60	blood:	n/a
18	chr14:37053331-37053381	Hela-S3	cervix:	n/a
19	chr14:37053331-37053381	GM12878	blood:	n/a
20	chr14:37053331-37053381	SK-N-MC	brain:	n/a
21	chr14:37053331-37053381	AG10803	skin:	n/a
22	chr14:37053331-37053381	BJ	skin:	n/a
23	chr14:37053331-37053381	HCM	heart:	n/a
24	chr14:37053331-37053381	HIPEpiC	eye:	n/a
25	chr14:37053331-37053381	HUVEC	blood vessel:	n/a
26	chr14:37053331-37053381	SK-N-SH	brain:	n/a
27	chr14:37053331-37053381	AG09319	gingival:	n/a
28	chr14:37053331-37053381	Jurkat	blood:	n/a
29	chr14:37053331-37053381	NB4	blood:	n/a
30	chr14:37053331-37053381	U87	brain:	n/a
31	chr14:37053331-37053381	HRPEpiC	eye:	n/a
32	chr14:37053331-37053381	SAEC	small airway:	n/a
33	chr14:37053331-37053381	PANC-1	pancreas:	n/a
34	chr14:37053331-37053381	HRE	kidney:	n/a
35	chr14:37053331-37053381	HCT-116	colon:	n/a
36	chr14:37053331-37053381	AG04450	lung:	fetal
37	chr14:37053331-37053381	GM12891	blood:	n/a
38	chr14:37053331-37053381	MCF-7	breast:	n/a
39	chr14:37053331-37053381	ECC-1	luminal epithelium:	n/a
40	chr14:37053331-37053381	GM12892	blood:	n/a
41	chr14:37053331-37053381	NHDF-neo	bronchial:	n/a
42	chr14:37053331-37053381	GM06990	blood:	n/a
43	chr14:37053331-37053381	NHBE	bronchial:	n/a
44	chr14:37053331-37053381	SKMC	muscle:	n/a
45	chr14:37053331-37053381	PrEC	prostate:	n/a
46	chr14:37053331-37053381	HEEpiC	esophagus:	n/a
47	chr14:37053331-37053381	SK-N-SH_RA	brain:	n/a
48	chr14:37053331-37053381	BE2_C	brain:	n/a
49	chr14:37053331-37053381	A549	lung:	n/a
50	chr14:37053331-37053381	K562	blood:	n/a

No data

Variant related genes	Relation type
NKX2-8	TF binding region
NKX2-8	CpG island

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12433344	0.88[EUR][1000 genomes]
rs17104784	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3809435	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809439	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:8 , 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

No data

Chromatin state (count:11 , 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	chr14:37050800-37053800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr14:37051600-37053400	Bivalent Enhancer	Fetal Stomach	stomach
4	chr14:37052200-37053400	Bivalent Enhancer	Lung	lung
5	chr14:37052200-37053800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:37052600-37053400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
7	chr14:37052800-37053400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:37053000-37053600	Bivalent Enhancer	Brain Germinal Matrix	brain
9	chr14:37053200-37053400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
10	chr14:37053200-37053400	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr14:37053200-37053400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell

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