Variant report

Variant	rs35710229
Chromosome Location	chr14:36990890-36990891
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:36989661-36991004	H1-neurons	neurons:	n/a	n/a
2	CEBPB	chr14:36990786-36991165	HepG2	liver:	n/a	n/a
3	CEBPB	chr14:36990844-36991067	HepG2	liver:	n/a	n/a
4	CEBPB	chr14:36990812-36991136	IMR90	lung:	n/a	n/a
5	CEBPB	chr14:36990800-36991121	A549	lung:	n/a	n/a
6	CEBPB	chr14:36990780-36991208	H1-hESC	embryonic stem cell:	n/a	n/a
7	SUZ12	chr14:36990826-36995085	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr14:36990765-36991200	H1-hESC	embryonic stem cell:	n/a	n/a
9	SUZ12	chr14:36981170-36992861	NT2-D1	testis:	n/a	n/a
10	CEBPB	chr14:36990887-36991084	Hela-S3	cervix:	n/a	n/a
11	CEBPB	chr14:36990788-36991152	HepG2	liver:	n/a	n/a
12	CEBPB	chr14:36990830-36991092	K562	blood:	n/a	n/a
13	CEBPB	chr14:36990811-36991121	K562	blood:	n/a	n/a
14	CTCF	chr14:36990821-36991108	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PAX9-3	chr14:36990849-36992221	ENSG00000253563.2

No data

Variant related genes	Relation type
ENSG00000257520	TF binding region
NKX2-1	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12589521	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12589522	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12589672	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12894724	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17176043	0.90[EUR][1000 genomes]
rs2075578	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34325207	0.90[EUR][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	esv15094	chr14:36986331-36990958	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36981400-36991200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:36988400-36991000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
3	chr14:36988800-36991200	Bivalent Enhancer	Fetal Stomach	stomach
4	chr14:36989200-36991200	Bivalent Enhancer	Fetal Brain Male	brain
5	chr14:36989400-36991000	Enhancers	Spleen	Spleen
6	chr14:36989400-36992600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
7	chr14:36989600-36991600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
8	chr14:36990000-36991000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
9	chr14:36990000-36993200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:36990200-36991000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr14:36990400-36991000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
12	chr14:36990400-36991000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
13	chr14:36990400-36991200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr14:36990400-36991400	Bivalent Enhancer	Esophagus	oesophagus
15	chr14:36990400-36992400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr14:36990400-36992600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
17	chr14:36990400-36992600	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
18	chr14:36990400-36992600	Enhancers	Pancreas	Pancrea
19	chr14:36990600-36991000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
20	chr14:36990600-36991000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr14:36990600-36991000	Bivalent/Poised TSS	Brain Germinal Matrix	brain
22	chr14:36990600-36991000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
23	chr14:36990600-36991000	Bivalent/Poised TSS	Psoas Muscle	Psoas
24	chr14:36990600-36991000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
25	chr14:36990600-36991200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
26	chr14:36990600-36991200	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr14:36990600-36991400	Bivalent Enhancer	Colon Smooth Muscle	Colon
28	chr14:36990600-36991600	Bivalent Enhancer	Brain Hippocampus Middle	brain
29	chr14:36990600-36991800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:36990600-36992200	Bivalent Enhancer	Adipose Nuclei	Adipose
31	chr14:36990800-36991000	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:36990800-36991000	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr14:36990800-36991000	Flanking Bivalent TSS/Enh	Brain Substantia Nigra	brain
34	chr14:36990800-36991000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
35	chr14:36990800-36991000	Flanking Bivalent TSS/Enh	HepG2	liver
36	chr14:36990800-36991200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
37	chr14:36990800-36991200	Bivalent Enhancer	Ovary	ovary
38	chr14:36990800-36991200	Flanking Bivalent TSS/Enh	Right Ventricle	heart
39	chr14:36990800-36991200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
40	chr14:36990800-36992600	Bivalent Enhancer	Liver	Liver

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