Variant report

Variant	esv3437510
Chromosome Location	chr14:85706199-85707697
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:85707452-85707711	Hela-S3	cervix:	n/a	n/a
2	EP300	chr14:85707171-85708121	ECC-1	luminal epithelium:	n/a	n/a
3	EP300	chr14:85707358-85707666	SK-N-SH_RA	brain:	n/a	n/a
4	EP300	chr14:85707430-85707723	SK-N-SH_RA	brain:	n/a	n/a
5	EP300	chr14:85707178-85707888	ECC-1	luminal epithelium:	n/a	n/a
6	ESR1	chr14:85707322-85707829	ECC-1	luminal epithelium:	n/a	n/a
7	ESR1	chr14:85707363-85707744	ECC-1	luminal epithelium:	n/a	n/a
8	FOS	chr14:85706387-85706522	MCF10A-Er-Src	breast:	n/a	n/a
9	FOXA1	chr14:85707311-85707661	ECC-1	luminal epithelium:	n/a	n/a
10	FOXM1	chr14:85707152-85708063	ECC-1	luminal epithelium:	n/a	n/a
11	MAX	chr14:85707303-85707869	ECC-1	luminal epithelium:	n/a	n/a
12	MAX	chr14:85707382-85707618	Hela-S3	cervix:	n/a	n/a
13	MAX	chr14:85707273-85707715	ECC-1	luminal epithelium:	n/a	n/a
14	NFIC	chr14:85707203-85708012	ECC-1	luminal epithelium:	n/a	n/a
15	NFIC	chr14:85707118-85708030	ECC-1	luminal epithelium:	n/a	n/a
16	NR3C1	chr14:85707293-85707809	ECC-1	luminal epithelium:	n/a	n/a
17	NR3C1	chr14:85707356-85707798	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr14:85707357-85707641	ECC-1	luminal epithelium:	n/a	n/a
19	RCOR1	chr14:85706289-85706489	Hela-S3	cervix:	n/a	n/a
20	STAT3	chr14:85706389-85706615	MCF10A-Er-Src	breast:	n/a	chr14:85706448-85706460
21	STAT3	chr14:85706117-85706317	MCF10A-Er-Src	breast:	n/a	n/a
22	STAT3	chr14:85706320-85706588	MCF10A-Er-Src	breast:	n/a	chr14:85706448-85706460
23	TCF12	chr14:85707204-85708037	ECC-1	luminal epithelium:	n/a	n/a
24	TCF12	chr14:85707185-85707992	ECC-1	luminal epithelium:	n/a	n/a
25	TCF12	chr14:85707295-85707864	SK-N-SH	brain:	n/a	n/a
26	TCF7L2	chr14:85707429-85707759	PANC-1	pancreas:	n/a	n/a
27	TEAD4	chr14:85707174-85707913	ECC-1	luminal epithelium:	n/a	n/a
28	TEAD4	chr14:85707150-85708047	ECC-1	luminal epithelium:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000259044	TF binding region

Extended variants
information (count: 56 )
Associated
traits (count: 65 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565232308	chr14:85706282-85706283	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs565135666	chr14:85706297-85706298	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs181130096	chr14:85706314-85706315	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs540963000	chr14:85706325-85706326	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs558903848	chr14:85706327-85706328	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs529665301	chr14:85706369-85706370	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs547844538	chr14:85706389-85706390	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs150921117	chr14:85706447-85706448	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs1767426	chr14:85706478-85706479	Weak transcription Enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs550102179	chr14:85706497-85706498	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs141101084	chr14:85706585-85706586	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs539322965	chr14:85706662-85706663	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1767425	chr14:85706663-85706664	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs201461101	chr14:85706701-85706702	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs36210121	chr14:85706711-85706712	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs566050561	chr14:85706732-85706733	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs1449415	chr14:85706741-85706742	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs370806792	chr14:85706768-85706769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs576458030	chr14:85706782-85706783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs530706726	chr14:85706829-85706830	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs201436459	chr14:85706865-85706866	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs77878739	chr14:85706877-85706878	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185577846	chr14:85706886-85706887	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs200682507	chr14:85706904-85706905	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199790793	chr14:85706905-85706906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10603329	chr14:85706909-85706910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs200034505	chr14:85706910-85706911	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs201011267	chr14:85706913-85706914	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs61654570	chr14:85706915-85706916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs201812706	chr14:85706918-85706919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs572126543	chr14:85707002-85707003	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs544423202	chr14:85707026-85707027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs540901554	chr14:85707036-85707037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs560720198	chr14:85707039-85707040	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs559234913	chr14:85707082-85707083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs574051393	chr14:85707171-85707172	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs189693651	chr14:85707194-85707195	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs576291158	chr14:85707242-85707243	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs374931299	chr14:85707285-85707286	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs563341140	chr14:85707309-85707310	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs543282554	chr14:85707319-85707320	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs149849962	chr14:85707354-85707355	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs562015470	chr14:85707363-85707364	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs530511831	chr14:85707364-85707365	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs375367582	chr14:85707368-85707369	Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs565314651	chr14:85707443-85707444	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs532775254	chr14:85707446-85707447	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs72687576	chr14:85707453-85707454	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs140682506	chr14:85707517-85707518	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs530466271	chr14:85707533-85707534	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:65)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Chronic myeloid leukemia	20724749	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21858162	CNVD
Lung cancer	18438408	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Neuroblastoma	18923191	CNVD
Barrett''s syndrome	19417022	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
cataract	16735990	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16608533	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
Breast cancer	17603634	CNVD
Glioblastoma	21080181	CNVD
Breast cancer	17133270	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164920	CNVD
Myelofibrosis	22110671	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Glioblastoma multiforme	21569311	CNVD

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:85695800-85707200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:85701200-85707200	Weak transcription	HSMM	muscle
3	chr14:85701200-85707400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:85701200-85715200	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr14:85701400-85707200	Weak transcription	Osteobl	bone
6	chr14:85701600-85706200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:85701600-85707400	Weak transcription	NHEK	skin
8	chr14:85701800-85707200	Weak transcription	HMEC	breast
9	chr14:85702600-85707200	Weak transcription	HUVEC	blood vessel
10	chr14:85704600-85706400	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr14:85704800-85706400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:85705000-85706200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr14:85705200-85706200	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr14:85705400-85706800	Enhancers	Ovary	ovary
15	chr14:85705600-85707400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr14:85705600-85708000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr14:85705800-85706200	Enhancers	A549	lung
18	chr14:85706000-85707200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr14:85706000-85707400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr14:85706000-85707400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr14:85706200-85706600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr14:85706200-85707400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr14:85706200-85707800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:85706200-85715600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr14:85706400-85707200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:85706400-85707400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:85706800-85707200	Weak transcription	Ovary	ovary
28	chr14:85707000-85707200	Enhancers	Fetal Kidney	kidney
29	chr14:85707000-85707200	Enhancers	Stomach Smooth Muscle	stomach
30	chr14:85707000-85707200	Enhancers	HSMMtube	muscle
31	chr14:85707200-85707400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:85707200-85707400	Enhancers	Muscle Satellite Cultured Cells	--
33	chr14:85707200-85707400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:85707200-85707400	Enhancers	Colon Smooth Muscle	Colon
35	chr14:85707200-85707400	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr14:85707200-85707400	Flanking Active TSS	Osteobl	bone
37	chr14:85707200-85707600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:85707200-85707600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:85707200-85707600	Enhancers	Cortex derived primary cultured neurospheres	brain
40	chr14:85707200-85707600	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr14:85707200-85707600	Enhancers	Hela-S3	cervix
42	chr14:85707200-85707800	Enhancers	HMEC	breast
43	chr14:85707200-85707800	Flanking Active TSS	HSMMtube	muscle
44	chr14:85707200-85708000	Flanking Active TSS	Fetal Kidney	kidney
45	chr14:85707200-85708000	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr14:85707200-85708000	Flanking Active TSS	HUVEC	blood vessel
47	chr14:85707200-85708000	Active TSS	NH-A	brain
48	chr14:85707200-85708200	Enhancers	Fetal Stomach	stomach
49	chr14:85707200-85708400	Active TSS	Ovary	ovary
50	chr14:85707200-85709200	Enhancers	HSMM	muscle

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