Variant report

Variant	esv3362997
Chromosome Location	chr14:67819304-67822453
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	MAFF	chr14:67821252-67821516	HepG2	liver:	n/a	n/a
2	MAFK	chr14:67821275-67821503	HepG2	liver:	n/a	chr14:67821396-67821412 chr14:67821396-67821411
3	MAFK	chr14:67821235-67821543	HepG2	liver:	n/a	chr14:67821396-67821412 chr14:67821396-67821411
4	MAFK	chr14:67821230-67821516	IMR90	lung:	n/a	chr14:67821396-67821412 chr14:67821396-67821411
5	POLR2A	chr14:67820198-67820214	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr14:67819642-67819919	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr14:67819753-67819794	GM12878	blood:	n/a	n/a
8	POLR2A	chr14:67820337-67820355	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr14:67820258-67820264	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr14:67819890-67820099	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr14:67819359-67819450	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr14:67819768-67820233	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr14:67820246-67820250	H1-hESC	embryonic stem cell:	n/a	n/a
14	STAT3	chr14:67822007-67822155	MCF10A-Er-Src	breast:	n/a	n/a
15	TBL1XR1	chr14:67821953-67822036	K562	blood:	n/a	n/a
16	ZNF384	chr14:67822071-67822091	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:67809333..67811728-chr14:67818021..67819593,2	MCF-7	breast:
2	chr14:67817758..67821095-chr14:67821234..67824521,3	K562	blood:
3	chr14:67820712..67822538-chr14:67826634..67828605,2	K562	blood:
4	chr14:67778865..67780700-chr14:67821446..67823357,2	MCF-7	breast:
5	chr14:67817307..67820185-chr14:67826327..67829228,3	MCF-7	breast:

Variant related genes	Relation type
ATP6V1D	TF binding region
EIF2S1	TF binding region
ENSG00000100554	chromatin interactions
ENSG00000134001	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 70 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75741644	chr14:67819318-67819319	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs142584288	chr14:67819336-67819337	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs566410703	chr14:67819393-67819394	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs146455659	chr14:67819409-67819410	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs140858347	chr14:67819419-67819420	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs552145021	chr14:67819420-67819421	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs118163018	chr14:67819427-67819428	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs182472929	chr14:67819452-67819453	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs187042227	chr14:67819465-67819466	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs568526185	chr14:67819471-67819472	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs80344276	chr14:67819518-67819519	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs535894052	chr14:67819540-67819541	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs554196012	chr14:67819561-67819562	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs10718799	chr14:67819568-67819569	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs368111178	chr14:67819570-67819571	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs572772866	chr14:67819571-67819572	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs398025488	chr14:67819578-67819579	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs75969190	chr14:67819579-67819580	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs8020850	chr14:67819602-67819603	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs374652031	chr14:67819613-67819614	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs202197245	chr14:67819619-67819620	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs372649168	chr14:67819635-67819636	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs150707025	chr14:67819672-67819673	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs139045883	chr14:67819686-67819687	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs369382914	chr14:67819718-67819719	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs145144886	chr14:67819734-67819735	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs142143626	chr14:67819735-67819736	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs373531466	chr14:67819738-67819739	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs376783542	chr14:67819770-67819771	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs375401771	chr14:67819788-67819789	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs369959071	chr14:67819802-67819803	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs527576420	chr14:67819816-67819817	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs577013513	chr14:67819853-67819854	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs552192423	chr14:67819974-67819975	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs72717397	chr14:67819981-67819982	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs562590562	chr14:67819995-67819996	Weak transcription Strong transcription	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs144617429	chr14:67820010-67820011	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs55924625	chr14:67820092-67820093	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs549976892	chr14:67820121-67820122	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs113206563	chr14:67820147-67820148	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs527542912	chr14:67820178-67820179	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs555457746	chr14:67820196-67820197	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs376162807	chr14:67820197-67820198	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs375450609	chr14:67820219-67820220	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs192025501	chr14:67820227-67820228	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs138511823	chr14:67820331-67820332	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs531847990	chr14:67820337-67820338	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs386778456	chr14:67820350-67820351	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs8014871	chr14:67820352-67820353	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs10147362	chr14:67820372-67820373	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:70)

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
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Colorectal cancer	16272173	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Breast cancer	22032731	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Colorectal cancer	16774939	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Ovarian cancer	21720365	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Neuroblastoma	18923191	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Barrett''s syndrome	19417022	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Breast cancer	17133270	CNVD
Basal cell lymphoma	17053054	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Acute myeloid leukemia	21251322	CNVD
cataract	16735990	CNVD
Neuroblastoma	20406844	CNVD
Breast cancer	21611746	CNVD
Cancer	20164919	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:200 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67762600-67825200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:67764400-67825200	Weak transcription	Stomach Mucosa	stomach
3	chr14:67767200-67825200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:67768600-67825800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:67791600-67820000	Weak transcription	Pancreas	Pancrea
6	chr14:67797000-67820800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:67798400-67819400	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr14:67798400-67820200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr14:67800000-67825200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:67800400-67820200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:67805200-67819600	Weak transcription	Esophagus	oesophagus
12	chr14:67805200-67823600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr14:67808400-67820400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr14:67808400-67823400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:67808600-67820200	Strong transcription	Primary B cells from peripheral blood	blood
16	chr14:67808600-67820400	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr14:67808800-67820200	Strong transcription	Adipose Nuclei	Adipose
18	chr14:67809000-67820000	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr14:67809000-67820000	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr14:67809000-67820200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr14:67809000-67820200	Strong transcription	HUES6 Cell Line	embryonic stem cell
22	chr14:67809000-67820200	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr14:67809000-67820200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:67809000-67820200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr14:67809000-67820200	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr14:67809000-67820200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr14:67809000-67820200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:67809000-67820200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:67809000-67820200	Strong transcription	Muscle Satellite Cultured Cells	--
30	chr14:67809000-67820200	Strong transcription	Placenta	Placenta
31	chr14:67809000-67820200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr14:67809000-67820400	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr14:67809000-67820800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
34	chr14:67809200-67819400	Strong transcription	Fetal Intestine Large	intestine
35	chr14:67809200-67820600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:67809200-67820800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr14:67809600-67819400	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr14:67809600-67820200	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr14:67809600-67820200	Strong transcription	Osteobl	bone
40	chr14:67809800-67819400	Strong transcription	Fetal Brain Female	brain
41	chr14:67809800-67819600	Strong transcription	Liver	Liver
42	chr14:67809800-67820000	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr14:67809800-67820400	Strong transcription	Left Ventricle	heart
44	chr14:67810000-67820000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr14:67810000-67820200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr14:67810000-67820200	Strong transcription	Fetal Muscle Trunk	muscle
47	chr14:67810000-67820800	Strong transcription	Fetal Muscle Leg	muscle
48	chr14:67810000-67820800	Strong transcription	HSMMtube	muscle
49	chr14:67810400-67820200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr14:67811000-67823200	Weak transcription	K562	blood

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