Variant report

Variant	esv3338779
Chromosome Location	chr14:39562676-39564724
allele	n/a
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	MYC	chr14:39562680-39562916	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr14:39564589-39564724	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr14:39564515-39564800	HepG2	liver:	n/a	n/a
4	POLR2A	chr14:39563156-39563340	HepG2	liver:	n/a	n/a
5	POLR2A	chr14:39562421-39562883	HepG2	liver:	n/a	n/a
6	POLR2A	chr14:39563761-39564476	HepG2	liver:	n/a	n/a
7	POLR2A	chr14:39563816-39564478	HepG2	liver:	n/a	n/a
8	POLR2A	chr14:39563735-39564547	HepG2	liver:	n/a	n/a
9	POLR2A	chr14:39562688-39562888	HepG2	liver:	n/a	n/a
10	POLR2A	chr14:39564670-39564720	MCF-7	breast:	n/a	n/a
11	POLR2A	chr14:39562910-39563368	HepG2	liver:	n/a	n/a
12	POLR2A	chr14:39563246-39563348	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39563300..39563800-chr19:17970555..17971121,2	Hela-S3	cervix:
2	chr14:39564253..39566731-chr14:39570082..39573549,3	MCF-7	breast:

Variant related genes	Relation type
SEC23A	TF binding region
ENSG00000100934	chromatin interactions
ENSG00000105640	chromatin interactions
ENSG00000258651	chromatin interactions

Extended variants
information (count: 97 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:97 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs35224434	chr14:39562698-39562699	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs184801021	chr14:39562701-39562702	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs2144529	chr14:39562729-39562730	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs529715852	chr14:39562735-39562736	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs549838306	chr14:39562736-39562737	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs569696020	chr14:39562783-39562784	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs538027244	chr14:39562825-39562826	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs146344016	chr14:39562835-39562836	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs571570569	chr14:39562844-39562845	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs34642409	chr14:39562851-39562852	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
11	rs553701999	chr14:39562875-39562876	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs188794721	chr14:39562914-39562915	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs570516776	chr14:39562931-39562932	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs534682670	chr14:39562942-39562943	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs78857429	chr14:39562959-39562960	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs73287682	chr14:39562972-39562973	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs574375989	chr14:39562993-39562994	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs181601025	chr14:39563028-39563029	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs370436828	chr14:39563092-39563093	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs142179988	chr14:39563110-39563111	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs79372969	chr14:39563133-39563134	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs541342848	chr14:39563149-39563150	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs561066959	chr14:39563230-39563231	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs140472059	chr14:39563236-39563237	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs139208943	chr14:39563262-39563263	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs549539161	chr14:39563301-39563302	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs2180216	chr14:39563302-39563303	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs370615822	chr14:39563401-39563402	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs532090379	chr14:39563409-39563410	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs71130811	chr14:39563430-39563431	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs545389802	chr14:39563431-39563432	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs199902481	chr14:39563432-39563433	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs201962644	chr14:39563454-39563455	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs201887310	chr14:39563455-39563456	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs145001003	chr14:39563457-39563458	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs74979816	chr14:39563459-39563460	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs571508196	chr14:39563468-39563469	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs201614943	chr14:39563483-39563484	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs11845107	chr14:39563485-39563486	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs371870916	chr14:39563487-39563488	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs534179163	chr14:39563509-39563510	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs56034205	chr14:39563511-39563512	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs371425647	chr14:39563524-39563525	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs12884455	chr14:39563535-39563536	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs12884457	chr14:39563537-39563538	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs11845115	chr14:39563539-39563540	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs184619149	chr14:39563542-39563543	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs12884460	chr14:39563543-39563544	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs12883603	chr14:39563550-39563551	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs12883342	chr14:39563551-39563552	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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
Colorectal cancer	16774939	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
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:173 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39525600-39565600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr14:39526400-39563200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr14:39526800-39566600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:39527000-39565400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr14:39528000-39565400	Strong transcription	Placenta	Placenta
6	chr14:39528000-39565600	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr14:39528600-39566400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:39529200-39566600	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr14:39529600-39564200	Strong transcription	Primary T helper cells fromperipheralblood	blood
10	chr14:39529800-39566400	Weak transcription	Fetal Heart	heart
11	chr14:39531200-39569200	Weak transcription	Stomach Mucosa	stomach
12	chr14:39532000-39565400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr14:39534200-39566600	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr14:39534600-39566800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr14:39538200-39565200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr14:39538200-39565200	Strong transcription	HUVEC	blood vessel
17	chr14:39538600-39566400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:39539000-39566600	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr14:39539200-39565400	Strong transcription	Duodenum Mucosa	Duodenum
20	chr14:39545400-39562800	Strong transcription	GM12878-XiMat	blood
21	chr14:39546600-39565400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr14:39549200-39565400	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr14:39549200-39565600	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr14:39549200-39565600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr14:39549400-39562800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:39549400-39565400	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr14:39549400-39565400	Strong transcription	Fetal Muscle Trunk	muscle
28	chr14:39550600-39565400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr14:39550800-39565400	Strong transcription	Primary B cells from peripheral blood	blood
30	chr14:39551000-39565000	Strong transcription	Stomach Smooth Muscle	stomach
31	chr14:39554200-39571200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr14:39554800-39571600	Weak transcription	K562	blood
33	chr14:39555200-39571600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:39555800-39569000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr14:39556800-39566200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr14:39556800-39566800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr14:39557200-39566400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:39557400-39565400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:39557600-39565400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr14:39558000-39565400	Strong transcription	Osteobl	bone
41	chr14:39558200-39565200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr14:39558400-39565200	Strong transcription	Duodenum Smooth Muscle	Duodenum
43	chr14:39558400-39565400	Strong transcription	Adipose Nuclei	Adipose
44	chr14:39558400-39565400	Strong transcription	NHDF-Ad	bronchial
45	chr14:39558400-39566000	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr14:39558600-39564200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr14:39558600-39564200	Strong transcription	Hela-S3	cervix
48	chr14:39558600-39564600	Strong transcription	HSMMtube	muscle
49	chr14:39558600-39564800	Strong transcription	Fetal Thymus	thymus
50	chr14:39558600-39564800	Strong transcription	Skeletal Muscle Female	skeletal muscle

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