Variant report

Variant	rs73362079
Chromosome Location	chr14:105955338-105955339
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	POLR2A	chr14:105955002-105956473	HepG2	liver:	n/a	n/a
2	CTCF	chr14:105955276-105958456	SK-N-SH	brain:	n/a	chr14:105957021-105957034 chr14:105957082-105957095 chr14:105958196-105958206 chr14:105956149-105956167 chr14:105957082-105957095 chr14:105957081-105957097 chr14:105957080-105957098 chr14:105956150-105956166
3	SMARCB1	chr14:105955101-105958128	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr14:105954916-105955498	HCT-116	colon:	n/a	n/a
5	POLR2A	chr14:105954883-105960284	HepG2	liver:	n/a	n/a
6	POLR2A	chr14:105953327-105958531	HepG2	liver:	n/a	n/a
7	POLR2A	chr14:105954948-105958403	GM12878	blood:	n/a	n/a
8	POLR2A	chr14:105953388-105958117	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr14:105954766-105958183	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr14:105954949-105958196	Raji	blood:	n/a	n/a
11	MAX	chr14:105955269-105958460	MCF-7	breast:	n/a	chr14:105956369-105956378 chr14:105958054-105958064 chr14:105956233-105956242
12	POLR2A	chr14:105954776-105955693	K562	blood:	n/a	n/a
13	ZBTB7A	chr14:105955220-105957290	ECC-1	luminal epithelium:	n/a	chr14:105957211-105957218
14	POLR2A	chr14:105954827-105958135	A549	lung:	n/a	n/a
15	POLR2A	chr14:105954737-105958092	PANC-1	pancreas:	n/a	n/a
16	ZBTB7A	chr14:105955331-105955552	K562	blood:	n/a	n/a
17	POLR2A	chr14:105955233-105955371	GM12878	blood:	n/a	n/a
18	POLR2A	chr14:105953117-105960278	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr14:105953342-105958764	HepG2	liver:	n/a	n/a
20	POLR2A	chr14:105953119-105958678	Hela-S3	cervix:	n/a	n/a
21	NR2F2	chr14:105953643-105958688	MCF-7	breast:	n/a	n/a
22	POLR2A	chr14:105955035-105958412	PANC-1	pancreas:	n/a	n/a
23	POLR2A	chr14:105953151-105960167	Hela-S3	cervix:	n/a	n/a
24	TFAP2C	chr14:105955287-105958366	Hela-S3	cervix:	n/a	chr14:105957766-105957781

No.	Distal block	Cell Line	Cell type
1	chr14:105862822..105868581-chr14:105954164..105958464,7	MCF-7	breast:
2	chr14:105766350..105771356-chr14:105955110..105959126,6	MCF-7	breast:
3	chr14:105950410..105961012-chr14:105989009..105997120,20	MCF-7	breast:
4	chr14:105765913..105767563-chr14:105954548..105956473,2	MCF-7	breast:
5	chr14:105878253..105887592-chr14:105952988..105961277,12	MCF-7	breast:
6	chr14:105833869..105838890-chr14:105955015..105958603,6	MCF-7	breast:
7	chr14:105839124..105843630-chr14:105955152..105959090,9	MCF-7	breast:
8	chr14:105950525..105959761-chr14:105989345..105997494,25	MCF-7	breast:
9	chr14:105486944..105489300-chr14:105953502..105956286,2	MCF-7	breast:
10	chr14:105936218..105937759-chr14:105953901..105956175,2	K562	blood:
11	chr14:105779526..105781902-chr14:105955293..105957927,2	MCF-7	breast:
12	chr14:105853760..105856019-chr14:105954695..105956610,2	MCF-7	breast:
13	chr14:105886174..105888891-chr14:105953847..105956104,2	MCF-7	breast:
14	chr14:105955045..105955930-chr17:8076446..8077006,2	Hela-S3	cervix:

Variant related genes	Relation type
C14orf80	TF binding region
ENSG00000184986	Chromatin interaction
ENSG00000226174	Chromatin interaction
ENSG00000242085	Chromatin interaction
ENSG00000185024	Chromatin interaction
ENSG00000251602	Chromatin interaction
ENSG00000170779	Chromatin interaction
ENSG00000179364	Chromatin interaction
ENSG00000182979	Chromatin interaction
ENSG00000257270	Chromatin interaction
ENSG00000200463	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4983414	1.00[ASN][1000 genomes]
rs4983417	1.00[ASN][1000 genomes]
rs4983418	1.00[ASN][1000 genomes]
rs8012089	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105952200-105955400	Bivalent Enhancer	Fetal Brain Male	brain
2	chr14:105952200-105956800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
3	chr14:105952600-105956800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr14:105952600-105957200	Flanking Active TSS	Stomach Smooth Muscle	stomach
5	chr14:105953000-105955600	Active TSS	Rectal Smooth Muscle	rectum
6	chr14:105953400-105956200	Enhancers	Liver	Liver
7	chr14:105953600-105955600	Enhancers	Dnd41	blood
8	chr14:105953800-105955600	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:105953800-105956200	Weak transcription	Ovary	ovary
10	chr14:105954000-105956000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
11	chr14:105954000-105956400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr14:105954200-105955600	Weak transcription	HMEC	breast
13	chr14:105954200-105956000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:105954200-105956000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr14:105954200-105956000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
16	chr14:105954200-105956000	Flanking Active TSS	HepG2	liver
17	chr14:105954200-105956200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
18	chr14:105954200-105956400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
19	chr14:105954200-105956400	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr14:105954200-105956400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr14:105954400-105955400	Active TSS	Colon Smooth Muscle	Colon
22	chr14:105954400-105955400	Genic enhancers	Spleen	Spleen
23	chr14:105954400-105955800	Weak transcription	Psoas Muscle	Psoas
24	chr14:105954400-105956000	Enhancers	Primary hematopoietic stem cells	blood
25	chr14:105954400-105956200	Flanking Active TSS	Primary T cells from cord blood	blood
26	chr14:105954400-105957000	Flanking Active TSS	Colonic Mucosa	Colon
27	chr14:105954600-105955400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:105954600-105955400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:105954600-105955600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr14:105954600-105955600	Weak transcription	Pancreas	Pancrea
31	chr14:105954600-105955800	Enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr14:105954600-105955800	Weak transcription	Brain Substantia Nigra	brain
33	chr14:105954600-105955800	Enhancers	Fetal Intestine Large	intestine
34	chr14:105954600-105955800	Genic enhancers	Fetal Intestine Small	intestine
35	chr14:105954600-105956200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:105954600-105956200	Enhancers	Gastric	stomach
37	chr14:105954600-105956200	Enhancers	Left Ventricle	heart
38	chr14:105954600-105956200	Enhancers	Placenta Amnion	Placenta Amnion
39	chr14:105954600-105956200	Enhancers	Sigmoid Colon	Sigmoid Colon
40	chr14:105954600-105956400	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr14:105954600-105958200	Active TSS	Right Atrium	heart
42	chr14:105954800-105955400	Enhancers	Primary B cells from cord blood	blood
43	chr14:105954800-105955400	Enhancers	Right Ventricle	heart
44	chr14:105954800-105955400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
45	chr14:105954800-105955600	Weak transcription	Aorta	Aorta
46	chr14:105954800-105955600	Bivalent Enhancer	Brain Germinal Matrix	brain
47	chr14:105954800-105955800	Transcr. at gene 5' and 3'	Primary Natural Killer cells fromperipheralblood	blood
48	chr14:105954800-105956000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr14:105954800-105956000	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
50	chr14:105954800-105956000	Flanking Active TSS	GM12878-XiMat	blood

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