Variant report

Variant	esv1820448
Chromosome Location	chr14:31392737-31403596
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:41)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:41 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr14:31397272-31397408	HepG2	liver:	n/a	chr14:31397379-31397390
2	CTCF	chr14:31393940-31393994	GM10248	blood:	n/a	n/a
3	ELK1	chr14:31399850-31399858	GM12878	blood:	n/a	n/a
4	GATA3	chr14:31400694-31401259	SK-N-SH	brain:	n/a	chr14:31400832-31400845
5	IRF1	chr14:31395264-31395370	K562	blood:	n/a	n/a
6	JUN	chr14:31393268-31393333	HepG2	liver:	n/a	n/a
7	JUND	chr14:31393200-31393327	HepG2	liver:	n/a	n/a
8	MAFF	chr14:31399888-31400095	HepG2	liver:	n/a	chr14:31399959-31399977
9	MAFF	chr14:31402134-31402264	HepG2	liver:	n/a	chr14:31402188-31402206
10	MAFK	chr14:31399260-31399551	HepG2	liver:	n/a	chr14:31399290-31399306
11	MAFK	chr14:31402164-31402215	HepG2	liver:	n/a	chr14:31402190-31402205
12	MAFK	chr14:31395830-31396011	HepG2	liver:	n/a	chr14:31395888-31395905
13	MAFK	chr14:31402131-31402279	HepG2	liver:	n/a	chr14:31402190-31402205
14	MAFK	chr14:31399215-31399375	HepG2	liver:	n/a	chr14:31399290-31399306
15	MAFK	chr14:31401023-31401045	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAFK	chr14:31399813-31400055	HepG2	liver:	n/a	chr14:31399962-31399982
17	MAFK	chr14:31399838-31400110	HepG2	liver:	n/a	chr14:31399962-31399982
18	MAZ	chr14:31398632-31398665	GM12878	blood:	n/a	n/a
19	NRF1	chr14:31400613-31400782	K562	blood:	n/a	n/a
20	POLR2A	chr14:31398595-31398607	K562	blood:	n/a	n/a
21	POLR2A	chr14:31401259-31401444	ProgFib	skin:	n/a	n/a
22	POLR2A	chr14:31393901-31393942	HepG2	liver:	n/a	n/a
23	POLR2A	chr14:31393275-31393401	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr14:31394292-31394298	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr14:31402276-31402279	MCF-7	breast:	n/a	n/a
26	POLR2A	chr14:31403290-31403507	MCF-7	breast:	n/a	n/a
27	POLR2A	chr14:31402264-31402292	A549	lung:	n/a	n/a
28	POLR2A	chr14:31393844-31393848	HepG2	liver:	n/a	n/a
29	POLR2A	chr14:31402286-31402297	MCF-7	breast:	n/a	n/a
30	POLR2A	chr14:31393789-31393820	HepG2	liver:	n/a	n/a
31	POLR2A	chr14:31402344-31402434	MCF-7	breast:	n/a	n/a
32	POLR2A	chr14:31402383-31402431	MCF-7	breast:	n/a	n/a
33	RUNX3	chr14:31397721-31397968	GM12878	blood:	n/a	n/a
34	RUNX3	chr14:31397644-31398049	GM12878	blood:	n/a	n/a
35	SPI1	chr14:31397758-31397954	GM12891	blood:	n/a	n/a
36	SPI1	chr14:31397701-31397965	GM12891	blood:	n/a	n/a
37	STAT3	chr14:31392937-31393137	MCF10A-Er-Src	breast:	n/a	n/a
38	STAT3	chr14:31400701-31400894	MCF10A-Er-Src	breast:	n/a	n/a
39	TCF7L2	chr14:31394930-31394945	HepG2	liver:	n/a	n/a
40	ZNF384	chr14:31402418-31402423	K562	blood:	n/a	n/a
41	ZNF384	chr14:31399099-31399335	K562	blood:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:31398430-31398480	MCF10A-Er-Src	breast:	n/a
2	chr14:31398430-31398480	SK-N-SH	brain:	n/a
3	chr14:31398430-31398480	NB4	blood:	n/a
4	chr14:31398430-31398480	T-47D	breast:	n/a
5	chr14:31398430-31398480	HRCEpiC	kidney:	n/a
6	chr14:31398430-31398480	PANC-1	pancreas:	n/a
7	chr14:31398430-31398480	NHDF-neo	bronchial:	n/a
8	chr14:31398430-31398480	U87	brain:	n/a
9	chr14:31398430-31398480	BE2_C	brain:	n/a
10	chr14:31398430-31398480	HEEpiC	esophagus:	n/a
11	chr14:31398430-31398480	NH-A	brain:	n/a
12	chr14:31398430-31398480	GM12892	blood:	n/a
13	chr14:31398430-31398480	SK-N-MC	brain:	n/a
14	chr14:31398430-31398480	HPAEpiC	pulmonary alveolar:	n/a
15	chr14:31398430-31398480	RPTEC	kidney:	n/a
16	chr14:31398430-31398480	HRE	kidney:	n/a
17	chr14:31398430-31398480	HAEpiC	amniotic membrane:	n/a
18	chr14:31398430-31398480	GM06990	blood:	n/a
19	chr14:31398430-31398480	Jurkat	blood:	n/a
20	chr14:31398430-31398480	AG09309	skin:	n/a
21	chr14:31398430-31398480	H1-hESC	embryonic stem cell:	embryo
22	chr14:31398430-31398480	AG10803	skin:	n/a
23	chr14:31398430-31398480	CMK	blood:	n/a
24	chr14:31398430-31398480	GM19239	blood:	n/a
25	chr14:31398430-31398480	HCPEpiC	choroid plexus:	n/a
26	chr14:31398430-31398480	SAEC	small airway:	n/a
27	chr14:31398430-31398480	ovcar-3	ovarian:	n/a
28	chr14:31398430-31398480	HMEC	breast:	n/a
29	chr14:31398430-31398480	SK-N-SH_RA	brain:	n/a
30	chr14:31398430-31398480	MCF-7	breast:	n/a
31	chr14:31398430-31398480	HIPEpiC	eye:	n/a
32	chr14:31398430-31398480	NT2-D1	testis:	n/a
33	chr14:31398430-31398480	A549	lung:	n/a
34	chr14:31398430-31398480	PFSK-1	brain:	n/a
35	chr14:31398430-31398480	NHBE	bronchial:	n/a
36	chr14:31398430-31398480	AoSMC	blood vessel:	n/a
37	chr14:31398430-31398480	AG09319	gingival:	n/a
38	chr14:31398430-31398480	ProgFib	skin:	n/a
39	chr14:31398430-31398480	HRPEpiC	eye:	n/a
40	chr14:31398430-31398480	AG04450	lung:	fetal
41	chr14:31398430-31398480	GM12878	blood:	n/a
42	chr14:31398430-31398480	IMR90	lung:	fetal
43	chr14:31398430-31398480	HCT-116	colon:	n/a
44	chr14:31398430-31398480	Hela-S3	cervix:	n/a
45	chr14:31398430-31398480	K562	blood:	n/a
46	chr14:31398430-31398480	HNPCEpiC	eye:	n/a
47	chr14:31398430-31398480	HL-60	blood:	n/a
48	chr14:31398430-31398480	Caco-2	colon:	n/a
49	chr14:31398430-31398480	HepG2	liver:	n/a
50	chr14:31398430-31398480	HUVEC	blood vessel:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:31400245..31402113-chr14:31403843..31406707,2	MCF-7	breast:
2	chr14:31398507..31401730-chr14:31402844..31406226,4	K562	blood:
3	chr14:31397468..31399701-chr14:31410285..31412729,2	MCF-7	breast:
4	chr14:31390350..31392275-chr14:31395263..31396767,2	K562	blood:
5	chr14:31398507..31401730-chr14:31402844..31406226,4	K562	blood:
6	chr14:31385237..31388114-chr14:31390780..31394488,3	MCF-7	breast:
7	chr14:31387011..31389077-chr14:31394255..31396560,2	K562	blood:

No data

Variant related genes	Relation type
STRN3	TF binding region
STRN3	CpG island
ENSG00000196792	chromatin interactions

Extended variants
information (count: 434 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:434 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs190042204	chr14:31392739-31392740	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75207652	chr14:31392745-31392746	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7153403	chr14:31392763-31392764	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs530535612	chr14:31392786-31392787	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs550471066	chr14:31392804-31392805	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570091170	chr14:31392814-31392815	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs537649146	chr14:31392836-31392837	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568765776	chr14:31392855-31392856	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs182269993	chr14:31392890-31392891	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs148363828	chr14:31392893-31392894	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376015904	chr14:31392906-31392907	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534955884	chr14:31392937-31392938	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs537074602	chr14:31392963-31392964	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs574051435	chr14:31392987-31392988	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs535118881	chr14:31393010-31393011	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs558878340	chr14:31393035-31393036	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs577302868	chr14:31393042-31393043	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs10138011	chr14:31393057-31393058	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
19	rs575269861	chr14:31393087-31393088	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12894991	chr14:31393098-31393099	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545965161	chr14:31393165-31393166	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs141587826	chr14:31393167-31393168	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs553652345	chr14:31393240-31393241	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs79428949	chr14:31393261-31393262	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs561972377	chr14:31393328-31393329	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530108248	chr14:31393350-31393351	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs112186038	chr14:31393353-31393354	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs552880629	chr14:31393375-31393376	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200674481	chr14:31393419-31393420	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs201580871	chr14:31393432-31393433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs563781778	chr14:31393436-31393437	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs202111865	chr14:31393440-31393441	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs71112353	chr14:31393451-31393452	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564776881	chr14:31393457-31393458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs12894339	chr14:31393475-31393476	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs374051467	chr14:31393493-31393494	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs71112354	chr14:31393513-31393514	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs563972323	chr14:31393533-31393534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186642690	chr14:31393554-31393555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs576388708	chr14:31393557-31393558	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs191802314	chr14:31393572-31393573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570663936	chr14:31393596-31393597	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150500338	chr14:31393597-31393598	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs184599116	chr14:31393599-31393600	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs138407999	chr14:31393614-31393615	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs535405913	chr14:31393651-31393652	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs556714535	chr14:31393682-31393683	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs568852797	chr14:31393685-31393686	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112386702	chr14:31393690-31393691	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545496067	chr14:31393732-31393733	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:64)

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
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:297 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31345000-31435400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:31347000-31394800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:31355800-31414400	Weak transcription	Spleen	Spleen
4	chr14:31356200-31412800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr14:31358000-31428200	Weak transcription	Small Intestine	intestine
6	chr14:31360200-31435600	Weak transcription	Gastric	stomach
7	chr14:31361800-31394200	Weak transcription	Fetal Brain Male	brain
8	chr14:31362200-31414400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr14:31362400-31435400	Weak transcription	Colonic Mucosa	Colon
10	chr14:31363000-31394400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:31363000-31430600	Weak transcription	Brain Angular Gyrus	brain
12	chr14:31363000-31435200	Weak transcription	Esophagus	oesophagus
13	chr14:31364400-31415400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr14:31364800-31393200	Weak transcription	Brain Substantia Nigra	brain
15	chr14:31365800-31402200	Weak transcription	Thymus	Thymus
16	chr14:31365800-31414200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:31365800-31435600	Weak transcription	Right Ventricle	heart
18	chr14:31370000-31393600	Weak transcription	Lung	lung
19	chr14:31370000-31414400	Weak transcription	Pancreas	Pancrea
20	chr14:31372400-31414400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:31376200-31403000	Weak transcription	Hela-S3	cervix
22	chr14:31377800-31435600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:31378000-31414400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:31378000-31439000	Weak transcription	Psoas Muscle	Psoas
25	chr14:31378800-31435200	Weak transcription	Aorta	Aorta
26	chr14:31378800-31435400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:31379000-31393600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:31379000-31393600	Weak transcription	Fetal Intestine Small	intestine
29	chr14:31379000-31413800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:31379400-31404200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr14:31379600-31402800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr14:31379600-31403400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr14:31379600-31404000	Weak transcription	Colon Smooth Muscle	Colon
34	chr14:31379600-31405000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr14:31379800-31403600	Weak transcription	Fetal Heart	heart
36	chr14:31379800-31412400	Weak transcription	Brain Hippocampus Middle	brain
37	chr14:31380400-31415400	Weak transcription	Brain Germinal Matrix	brain
38	chr14:31380600-31402600	Weak transcription	HMEC	breast
39	chr14:31380800-31403200	Weak transcription	Fetal Muscle Leg	muscle
40	chr14:31380800-31405800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr14:31381200-31393800	Weak transcription	Fetal Lung	lung
42	chr14:31381200-31414400	Weak transcription	Fetal Brain Female	brain
43	chr14:31381400-31393800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:31381400-31393800	Weak transcription	Fetal Kidney	kidney
45	chr14:31381400-31402200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr14:31381400-31402200	Weak transcription	Fetal Thymus	thymus
47	chr14:31381400-31402200	Weak transcription	Left Ventricle	heart
48	chr14:31381400-31402200	Weak transcription	Ovary	ovary
49	chr14:31381400-31403200	Weak transcription	Primary T cells from cord blood	blood
50	chr14:31381400-31403200	Weak transcription	Duodenum Smooth Muscle	Duodenum

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