Variant report

Variant	rs376291377
Chromosome Location	chr14:80677727-80677728
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:58)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:58 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:80677424-80677868	A549	lung:	n/a	n/a
2	POLR2A	chr14:80677452-80677904	Hela-S3	cervix:	n/a	n/a
3	CHD2	chr14:80677430-80677846	Hela-S3	cervix:	n/a	n/a
4	TAF1	chr14:80677482-80677735	PFSK-1	brain:	n/a	n/a
5	MAX	chr14:80677454-80677881	SK-N-SH	brain:	n/a	n/a
6	RCOR1	chr14:80677273-80677874	Hela-S3	cervix:	n/a	n/a
7	TCF12	chr14:80677317-80677902	A549	lung:	n/a	n/a
8	ZNF143	chr14:80677544-80677799	Hela-S3	cervix:	n/a	n/a
9	CREB1	chr14:80677470-80677849	A549	lung:	n/a	n/a
10	TBP	chr14:80677462-80677896	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr14:80677590-80677791	Fibrobl	skin:	n/a	n/a
12	USF1	chr14:80677502-80677885	A549	lung:	n/a	n/a
13	MAX	chr14:80677522-80677891	A549	lung:	n/a	n/a
14	RAD21	chr14:80677503-80677871	SK-N-SH_RA	brain:	n/a	n/a
15	MXI1	chr14:80677487-80677864	Hela-S3	cervix:	n/a	n/a
16	USF1	chr14:80677537-80677828	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr14:80677460-80677750	AG09319	gingival:	n/a	n/a
18	POLR2A	chr14:80677474-80677898	A549	lung:	n/a	n/a
19	MAX	chr14:80677514-80677883	H1-hESC	embryonic stem cell:	n/a	n/a
20	MYC	chr14:80677576-80677768	Hela-S3	cervix:	n/a	n/a
21	USF1	chr14:80677542-80677848	A549	lung:	n/a	n/a
22	USF2	chr14:80677512-80677892	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr14:80677309-80678196	PFSK-1	brain:	n/a	n/a
24	CTCF	chr14:80677540-80677818	T-47D	breast:	n/a	n/a
25	POLR2A	chr14:80677469-80677887	Hela-S3	cervix:	n/a	n/a
26	E2F6	chr14:80677484-80677889	A549	lung:	n/a	n/a
27	POLR2A	chr14:80677492-80677757	A549	lung:	n/a	n/a
28	USF1	chr14:80677468-80677871	SK-N-SH_RA	brain:	n/a	n/a
29	POLR2A	chr14:80676930-80678772	Hela-S3	cervix:	n/a	n/a
30	USF1	chr14:80677482-80677887	SK-N-SH	brain:	n/a	n/a
31	USF1	chr14:80677519-80677886	A549	lung:	n/a	n/a
32	POLR2A	chr14:80677494-80677867	A549	lung:	n/a	n/a
33	MAX	chr14:80676965-80677897	Hela-S3	cervix:	n/a	n/a
34	SMC3	chr14:80677411-80677830	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr14:80677401-80677865	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr14:80677647-80677798	Gliobla	brain:	n/a	n/a
37	RAD21	chr14:80677614-80677801	SK-N-SH_RA	brain:	n/a	n/a
38	MAX	chr14:80677207-80678080	A549	lung:	n/a	n/a
39	RFX5	chr14:80677426-80677887	Hela-S3	cervix:	n/a	n/a
40	GTF2F1	chr14:80677570-80677835	Hela-S3	cervix:	n/a	n/a
41	MAX	chr14:80677287-80678795	Hela-S3	cervix:	n/a	n/a
42	JUND	chr14:80677443-80677922	A549	lung:	n/a	n/a
43	MAX	chr14:80677511-80677834	H1-hESC	embryonic stem cell:	n/a	n/a
44	MAX	chr14:80677428-80677880	SK-N-SH	brain:	n/a	n/a
45	ZKSCAN1	chr14:80677518-80677765	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr14:80677599-80677767	A549	lung:	n/a	n/a
47	MYC	chr14:80677459-80677926	Hela-S3	cervix:	n/a	n/a
48	SIN3AK20	chr14:80677534-80677805	PFSK-1	brain:	n/a	n/a
49	POLR2A	chr14:80677721-80677844	ProgFib	skin:	n/a	n/a
50	CTCF	chr14:80677640-80677790	AG09319	gingival:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:80677688-80677738	HCPEpiC	choroid plexus:	n/a
2	chr14:80677688-80677738	Jurkat	blood:	n/a
3	chr14:80677688-80677738	NT2-D1	testis:	n/a
4	chr14:80677688-80677738	T-47D	breast:	n/a
5	chr14:80677688-80677738	HEK293	kidney:	embryo
6	chr14:80677688-80677738	HRE	kidney:	n/a
7	chr14:80677688-80677738	HCF	heart:	n/a
8	chr14:80677688-80677738	HPAEpiC	pulmonary alveolar:	n/a
9	chr14:80677688-80677738	GM12878	blood:	n/a
10	chr14:80677688-80677738	CMK	blood:	n/a
11	chr14:80677688-80677738	GM19239	blood:	n/a
12	chr14:80677688-80677738	AG10803	skin:	n/a
13	chr14:80677688-80677738	HMEC	breast:	n/a
14	chr14:80677688-80677738	NB4	blood:	n/a
15	chr14:80677688-80677738	HAEpiC	amniotic membrane:	n/a
16	chr14:80677688-80677738	HCT-116	colon:	n/a
17	chr14:80677688-80677738	PrEC	prostate:	n/a
18	chr14:80677688-80677738	BJ	skin:	n/a
19	chr14:80677688-80677738	AG09319	gingival:	n/a
20	chr14:80677688-80677738	AG04449	skin:	fetal
21	chr14:80677688-80677738	SAEC	small airway:	n/a
22	chr14:80677688-80677738	HUVEC	blood vessel:	n/a
23	chr14:80677688-80677738	AG04450	lung:	fetal
24	chr14:80677688-80677738	PFSK-1	brain:	n/a
25	chr14:80677688-80677738	HRPEpiC	eye:	n/a
26	chr14:80677688-80677738	NHDF-neo	bronchial:	n/a
27	chr14:80677688-80677738	SK-N-MC	brain:	n/a
28	chr14:80677688-80677738	LNCaP	prostate:	n/a
29	chr14:80677688-80677738	HRCEpiC	kidney:	n/a
30	chr14:80677688-80677738	ECC-1	luminal epithelium:	n/a
31	chr14:80677688-80677738	HepG2	liver:	n/a
32	chr14:80677688-80677738	ovcar-3	ovarian:	n/a
33	chr14:80677688-80677738	RPTEC	kidney:	n/a
34	chr14:80677688-80677738	GM12892	blood:	n/a
35	chr14:80677688-80677738	HNPCEpiC	eye:	n/a
36	chr14:80677688-80677738	AG09309	skin:	n/a
37	chr14:80677688-80677738	U87	brain:	n/a
38	chr14:80677688-80677738	Hepatocyte	liver:	n/a
39	chr14:80677688-80677738	PANC-1	pancreas:	n/a
40	chr14:80677688-80677738	SK-N-SH_RA	brain:	n/a
41	chr14:80677688-80677738	H1-hESC	embryonic stem cell:	embryo
42	chr14:80677688-80677738	IMR90	lung:	fetal
43	chr14:80677688-80677738	SK-N-SH	brain:	n/a
44	chr14:80677688-80677738	BE2_C	brain:	n/a
45	chr14:80677688-80677738	ProgFib	skin:	n/a
46	chr14:80677688-80677738	HCM	heart:	n/a
47	chr14:80677688-80677738	NH-A	brain:	n/a
48	chr14:80677688-80677738	GM06990	blood:	n/a
49	chr14:80677688-80677738	SKMC	muscle:	n/a
50	chr14:80677688-80677738	MCF-7	breast:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:80677536..80678360-chr19:55918954..55919612,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
DIO2	TF binding region
DIO2-AS1	TF binding region
DIO2	CpG island
DIO2-AS1	CpG island
ENSG00000108106	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv1045241	chr14:79885361-80734201	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv902113	chr14:80172094-80929699	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv534191	chr14:80674955-80736720	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	esv3406387	chr14:80677549-80678547	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:80673400-80678400	Weak transcription	Brain Germinal Matrix	brain
2	chr14:80675400-80678800	Active TSS	A549	lung
3	chr14:80675800-80678600	Active TSS	Fetal Brain Female	brain
4	chr14:80676000-80678600	Active TSS	Brain Cingulate Gyrus	brain
5	chr14:80676200-80678600	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr14:80676400-80677800	Flanking Active TSS	Hela-S3	cervix
7	chr14:80676600-80678600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr14:80677200-80677800	Active TSS	Left Ventricle	heart
9	chr14:80677200-80678000	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr14:80677200-80678600	Active TSS	Brain Substantia Nigra	brain
11	chr14:80677200-80678600	Active TSS	Psoas Muscle	Psoas
12	chr14:80677200-80678600	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr14:80677400-80677800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr14:80677400-80677800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr14:80677400-80677800	Enhancers	Aorta	Aorta
16	chr14:80677400-80677800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
17	chr14:80677400-80677800	Genic enhancers	Esophagus	oesophagus
18	chr14:80677400-80677800	Enhancers	Fetal Muscle Trunk	muscle
19	chr14:80677400-80677800	ZNF genes & repeats	Lung	lung
20	chr14:80677400-80677800	Enhancers	Pancreas	Pancrea
21	chr14:80677400-80677800	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
22	chr14:80677400-80677800	Active TSS	Spleen	Spleen
23	chr14:80677400-80678000	Enhancers	Fetal Muscle Leg	muscle
24	chr14:80677400-80678400	Active TSS	NHLF	lung
25	chr14:80677400-80678600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr14:80677400-80678600	Enhancers	Gastric	stomach
27	chr14:80677400-80678600	Active TSS	Rectal Smooth Muscle	rectum
28	chr14:80677400-80678600	Active TSS	HSMMtube	muscle
29	chr14:80677400-80678800	Active TSS	Duodenum Smooth Muscle	Duodenum
30	chr14:80677400-80678800	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr14:80677400-80678800	Active TSS	Right Atrium	heart
32	chr14:80677600-80677800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr14:80677600-80677800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr14:80677600-80677800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
35	chr14:80677600-80677800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
36	chr14:80677600-80677800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:80677600-80677800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
38	chr14:80677600-80677800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:80677600-80677800	Enhancers	Placenta Amnion	Placenta Amnion
40	chr14:80677600-80678000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr14:80677600-80678000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr14:80677600-80678000	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr14:80677600-80678000	Enhancers	Placenta	Placenta
44	chr14:80677600-80678200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:80677600-80678200	Enhancers	Fetal Lung	lung
46	chr14:80677600-80678400	Active TSS	Brain Anterior Caudate	brain
47	chr14:80677600-80678400	Active TSS	HSMM	muscle
48	chr14:80677600-80678400	Active TSS	NHDF-Ad	bronchial
49	chr14:80677600-80678400	Active TSS	Osteobl	bone
50	chr14:80677600-80678600	Active TSS	Stomach Smooth Muscle	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links