Variant report

Variant	esv3404916
Chromosome Location	chr14:31589401-31593699
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:68)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:68 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL3	chr14:31591162-31591914	GM12878	blood:	n/a	n/a
2	BCL3	chr14:31591200-31591803	GM12878	blood:	n/a	n/a
3	CEBPB	chr14:31591276-31591882	HepG2	liver:	n/a	chr14:31591737-31591748
4	CEBPB	chr14:31591348-31591847	IMR90	lung:	n/a	chr14:31591737-31591748
5	CEBPB	chr14:31591312-31591864	HepG2	liver:	n/a	chr14:31591737-31591748
6	CEBPB	chr14:31591484-31591815	Hela-S3	cervix:	n/a	chr14:31591737-31591748
7	CEBPB	chr14:31591639-31591738	K562	blood:	n/a	n/a
8	CEBPB	chr14:31591370-31591791	H1-hESC	embryonic stem cell:	n/a	chr14:31591737-31591748
9	CEBPB	chr14:31591395-31591748	A549	lung:	n/a	chr14:31591737-31591748
10	CHD2	chr14:31592745-31592759	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr14:31591528-31591674	MCF-7	breast:	n/a	n/a
12	CTCF	chr14:31591524-31591526	MCF-7	breast:	n/a	n/a
13	CTCF	chr14:31591464-31591560	Fibrobl	skin:	n/a	n/a
14	ELK1	chr14:31591268-31591296	Hela-S3	cervix:	n/a	n/a
15	FOS	chr14:31591634-31591684	MCF10A-Er-Src	breast:	n/a	n/a
16	FOS	chr14:31591623-31591624	MCF10A-Er-Src	breast:	n/a	n/a
17	JUND	chr14:31591641-31591760	HepG2	liver:	n/a	n/a
18	MYC	chr14:31591648-31591785	MCF10A-Er-Src	breast:	n/a	n/a
19	MYC	chr14:31591468-31591627	MCF-7	breast:	n/a	n/a
20	MYC	chr14:31591379-31591740	MCF-7	breast:	n/a	n/a
21	MYC	chr14:31591528-31591675	MCF-7	breast:	n/a	n/a
22	MYC	chr14:31591676-31591683	MCF-7	breast:	n/a	n/a
23	MYC	chr14:31591628-31591631	MCF-7	breast:	n/a	n/a
24	NFATC1	chr14:31591380-31591846	GM12878	blood:	n/a	n/a
25	NFATC1	chr14:31591299-31591884	GM12878	blood:	n/a	n/a
26	PBX3	chr14:31591265-31591797	GM12878	blood:	n/a	n/a
27	POLR2A	chr14:31591163-31591886	GM12892	blood:	n/a	n/a
28	POLR2A	chr14:31591524-31591533	MCF-7	breast:	n/a	n/a
29	POLR2A	chr14:31591502-31591516	MCF-7	breast:	n/a	n/a
30	POLR2A	chr14:31590557-31590690	HepG2	liver:	n/a	n/a
31	POLR2A	chr14:31591517-31591527	A549	lung:	n/a	n/a
32	POLR2A	chr14:31591352-31591772	HepG2	liver:	n/a	n/a
33	POLR2A	chr14:31591602-31591726	GM12878	blood:	n/a	n/a
34	POLR2A	chr14:31591487-31591808	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr14:31592890-31593966	HepG2	liver:	n/a	n/a
36	POLR2A	chr14:31591169-31591782	HL-60	blood:	n/a	n/a
37	POLR2A	chr14:31591263-31591812	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr14:31591257-31591763	HepG2	liver:	n/a	n/a
39	POLR2A	chr14:31591435-31591750	K562	blood:	n/a	n/a
40	POLR2A	chr14:31591443-31591775	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr14:31591362-31591798	GM12891	blood:	n/a	n/a
42	POLR2A	chr14:31591552-31591694	A549	lung:	n/a	n/a
43	POLR2A	chr14:31591597-31591666	ProgFib	skin:	n/a	n/a
44	POLR2A	chr14:31591515-31591780	HepG2	liver:	n/a	n/a
45	POLR2A	chr14:31591182-31591807	HepG2	liver:	n/a	n/a
46	POLR2A	chr14:31589996-31590679	HepG2	liver:	n/a	n/a
47	POLR2A	chr14:31591543-31591576	GM12878	blood:	n/a	n/a
48	POLR2A	chr14:31591125-31591813	HepG2	liver:	n/a	n/a
49	POLR2A	chr14:31592650-31592677	HUVEC	blood vessel:	n/a	n/a
50	POLR2A	chr14:31591535-31591677	MCF-7	breast:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:31590905..31593026-chr14:31610871..31613579,2	MCF-7	breast:
2	chr14:31582719..31585282-chr14:31590697..31593425,2	K562	blood:
3	chr14:31588557..31591164-chr14:31676122..31677690,2	MCF-7	breast:
4	chr14:31592934..31595654-chr14:31599577..31602427,2	MCF-7	breast:

No data

Variant related genes	Relation type
HECTD1	TF binding region
ENSG00000207440	chromatin interactions
ENSG00000092148	chromatin interactions

Extended variants
information (count: 178 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:178 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373881271	chr14:31589416-31589417	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs542872156	chr14:31589434-31589435	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs577399616	chr14:31589455-31589456	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs561049560	chr14:31589487-31589488	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs531653318	chr14:31589516-31589517	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs549782596	chr14:31589572-31589573	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs143376982	chr14:31589633-31589634	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs148382814	chr14:31589724-31589725	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs116904831	chr14:31589747-31589748	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs555298441	chr14:31589853-31589854	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs141618762	chr14:31589862-31589863	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs534006362	chr14:31589863-31589864	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs399653	chr14:31589874-31589875	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs560041605	chr14:31589881-31589882	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs117363532	chr14:31589945-31589946	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs567724519	chr14:31589953-31589954	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs399371	chr14:31589986-31589987	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs142630762	chr14:31590036-31590037	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs540674880	chr14:31590065-31590066	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs139862327	chr14:31590083-31590084	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs75192944	chr14:31590097-31590098	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs538304636	chr14:31590114-31590115	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs141685296	chr14:31590169-31590170	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs372062235	chr14:31590180-31590181	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs146213346	chr14:31590228-31590229	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs542712556	chr14:31590236-31590237	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs561090761	chr14:31590237-31590238	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs576112061	chr14:31590244-31590245	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs543707549	chr14:31590260-31590261	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs146568141	chr14:31590264-31590265	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs375615250	chr14:31590280-31590281	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs185152828	chr14:31590307-31590308	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs190483325	chr14:31590312-31590313	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs17097740	chr14:31590357-31590358	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs181870076	chr14:31590392-31590393	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs398168	chr14:31590399-31590400	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs375089853	chr14:31590428-31590429	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs527795278	chr14:31590456-31590457	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs74042159	chr14:31590487-31590488	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs118121779	chr14:31590489-31590490	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs370563762	chr14:31590495-31590496	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs562968048	chr14:31590553-31590554	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs369794398	chr14:31590561-31590562	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs531851468	chr14:31590573-31590574	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs201612618	chr14:31590599-31590600	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs571876830	chr14:31590600-31590601	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs377640342	chr14:31590611-31590612	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs539325099	chr14:31590681-31590682	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs369487877	chr14:31590683-31590684	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs370774239	chr14:31590686-31590687	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Acute lymphoblastic leukemia	20067559	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
Breast cancer	17899364	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	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
Breast cancer	16272173	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Epilepsy	20736978	CNVD
Mental retardation	20736978	CNVD
severe speech impairment	20736978	CNVD
speech impairment	20736978	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
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	17603634	CNVD
Esophageal cancer	20955586	CNVD
Cancer	21183584	CNVD
Leukoplakia	24403051	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Chronic myeloid leukemia	16756668	CNVD
Sudden cardiac death	19188705	CNVD
Pilocytic astrocytoma	18670637	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:272 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31563800-31650000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:31564800-31648600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
3	chr14:31565400-31599000	Strong transcription	Adipose Nuclei	Adipose
4	chr14:31565600-31593200	Strong transcription	Primary B cells from cord blood	blood
5	chr14:31565600-31593200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:31565600-31598000	Strong transcription	Liver	Liver
7	chr14:31565600-31648000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr14:31565800-31596800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr14:31566000-31591400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr14:31566000-31592800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr14:31566000-31599200	Strong transcription	Fetal Muscle Trunk	muscle
12	chr14:31566000-31627400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:31566200-31590600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr14:31566200-31591600	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr14:31566200-31596800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr14:31566200-31597200	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr14:31566200-31599200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr14:31566200-31627000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr14:31566200-31635200	Strong transcription	Placenta	Placenta
20	chr14:31566200-31648200	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr14:31566400-31592400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr14:31566400-31592600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr14:31566400-31597800	Strong transcription	Primary B cells from peripheral blood	blood
24	chr14:31566400-31597800	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr14:31566600-31591000	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr14:31566600-31592000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:31566600-31592400	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr14:31566600-31592400	Strong transcription	Sigmoid Colon	Sigmoid Colon
29	chr14:31566600-31592800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr14:31566600-31597600	Strong transcription	Rectal Mucosa Donor 31	rectum
31	chr14:31567000-31591400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr14:31567000-31592600	Strong transcription	Primary T helper cells fromperipheralblood	blood
33	chr14:31567000-31592600	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr14:31567000-31597000	Strong transcription	HepG2	liver
35	chr14:31567000-31620200	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr14:31567000-31647600	Strong transcription	Duodenum Mucosa	Duodenum
37	chr14:31567000-31651200	Strong transcription	Dnd41	blood
38	chr14:31567200-31591200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
39	chr14:31567200-31592800	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr14:31567200-31592800	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr14:31568200-31591200	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr14:31568200-31598600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr14:31568400-31592400	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr14:31569800-31592800	Strong transcription	Stomach Smooth Muscle	stomach
45	chr14:31571600-31591400	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr14:31572800-31604600	Strong transcription	Fetal Intestine Large	intestine
47	chr14:31573000-31591400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr14:31573000-31597600	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr14:31573000-31650200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr14:31573200-31590400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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