Variant report

Variant	nsv1038382
Chromosome Location	chr14:47150432-47393565
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	ATF1	chr14:47227696-47227775	K562	blood:	n/a	n/a
2	ATF2	chr14:47238421-47238949	GM12878	blood:	n/a	n/a
3	ATF2	chr14:47238352-47238954	GM12878	blood:	n/a	n/a
4	BACH1	chr14:47354811-47355132	K562	blood:	n/a	n/a
5	BACH1	chr14:47354745-47355139	H1-hESC	embryonic stem cell:	n/a	n/a
6	BATF	chr14:47356425-47356723	GM12878	blood:	n/a	chr14:47356567-47356578
7	BATF	chr14:47238445-47238909	GM12878	blood:	n/a	chr14:47238736-47238744
8	BATF	chr14:47238467-47238929	GM12878	blood:	n/a	chr14:47238736-47238744
9	BATF	chr14:47356455-47356637	GM12878	blood:	n/a	chr14:47356567-47356578
10	BCL11A	chr14:47287397-47287658	H1-hESC	embryonic stem cell:	n/a	n/a
11	BCL11A	chr14:47238500-47238903	GM12878	blood:	n/a	chr14:47238829-47238838 chr14:47238615-47238624
12	BCLAF1	chr14:47238310-47239094	GM12878	blood:	n/a	chr14:47238829-47238838 chr14:47238615-47238624
13	BHLHE40	chr14:47243207-47243216	GM12878	blood:	n/a	n/a
14	BHLHE40	chr14:47238505-47238975	GM12878	blood:	n/a	n/a
15	BRCA1	chr14:47303861-47303947	Hela-S3	cervix:	n/a	n/a
16	CEBPB	chr14:47150425-47150718	A549	lung:	n/a	n/a
17	CEBPB	chr14:47366505-47366846	HepG2	liver:	n/a	chr14:47366671-47366680 chr14:47366671-47366682 chr14:47366669-47366682 chr14:47366669-47366680
18	CEBPB	chr14:47366550-47366832	A549	lung:	n/a	chr14:47366671-47366680 chr14:47366671-47366682 chr14:47366669-47366682 chr14:47366669-47366680
19	CEBPB	chr14:47303627-47303827	HepG2	liver:	n/a	chr14:47303681-47303692
20	CEBPB	chr14:47362166-47362402	A549	lung:	n/a	chr14:47362259-47362270
21	CEBPB	chr14:47150439-47150659	H1-hESC	embryonic stem cell:	n/a	n/a
22	CEBPB	chr14:47366543-47366799	H1-hESC	embryonic stem cell:	n/a	chr14:47366671-47366682 chr14:47366669-47366682 chr14:47366669-47366680 chr14:47366671-47366680
23	CEBPB	chr14:47150385-47150700	HepG2	liver:	n/a	n/a
24	CEBPB	chr14:47353274-47353450	A549	lung:	n/a	n/a
25	CEBPB	chr14:47280156-47280467	HepG2	liver:	n/a	chr14:47280326-47280337 chr14:47280326-47280339 chr14:47280326-47280339
26	CEBPB	chr14:47353249-47353482	HepG2	liver:	n/a	n/a
27	CEBPB	chr14:47237873-47237945	H1-hESC	embryonic stem cell:	n/a	chr14:47237881-47237890 chr14:47237881-47237890 chr14:47237879-47237892 chr14:47237881-47237890
28	CEBPB	chr14:47191227-47191420	HepG2	liver:	n/a	chr14:47191326-47191337
29	CEBPB	chr14:47366501-47366839	IMR90	lung:	n/a	chr14:47366671-47366680 chr14:47366671-47366682 chr14:47366669-47366682 chr14:47366669-47366680
30	CEBPB	chr14:47163064-47163185	HepG2	liver:	n/a	n/a
31	CEBPB	chr14:47204885-47205091	A549	lung:	n/a	n/a
32	CEBPB	chr14:47217051-47217222	H1-hESC	embryonic stem cell:	n/a	n/a
33	CEBPB	chr14:47184168-47184434	HepG2	liver:	n/a	chr14:47184272-47184283
34	CEBPB	chr14:47362090-47362394	IMR90	lung:	n/a	chr14:47362259-47362270
35	CEBPB	chr14:47303607-47303836	A549	lung:	n/a	chr14:47303681-47303692
36	CEBPB	chr14:47150417-47150717	IMR90	lung:	n/a	n/a
37	CEBPB	chr14:47380994-47381232	HepG2	liver:	n/a	n/a
38	CEBPB	chr14:47191649-47191654	H1-hESC	embryonic stem cell:	n/a	n/a
39	CEBPB	chr14:47362102-47362436	HepG2	liver:	n/a	chr14:47362259-47362270
40	CEBPB	chr14:47288787-47289125	A549	lung:	n/a	chr14:47288961-47288972
41	CEBPB	chr14:47163162-47163272	H1-hESC	embryonic stem cell:	n/a	n/a
42	CEBPB	chr14:47362170-47362344	H1-hESC	embryonic stem cell:	n/a	chr14:47362259-47362270
43	CEBPB	chr14:47184230-47184309	H1-hESC	embryonic stem cell:	n/a	chr14:47184272-47184283
44	CEBPB	chr14:47288797-47289144	HepG2	liver:	n/a	chr14:47288961-47288972
45	CHD1	chr14:47238985-47239024	GM12878	blood:	n/a	n/a
46	CHD1	chr14:47251413-47251417	GM12878	blood:	n/a	n/a
47	CTCF	chr14:47250251-47250282	MCF-7	breast:	n/a	n/a
48	CTCF	chr14:47392940-47393090	HRPEpiC	eye:	n/a	chr14:47393063-47393084
49	CTCF	chr14:47389900-47390050	HRE	kidney:	n/a	n/a
50	CTCF	chr14:47389800-47389950	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:47310377-47310427	HPAEpiC	pulmonary alveolar:	n/a
2	chr14:47310377-47310427	NB4	blood:	n/a
3	chr14:47310377-47310427	AG09319	gingival:	n/a
4	chr14:47310377-47310427	ECC-1	luminal epithelium:	n/a
5	chr14:47310377-47310427	T-47D	breast:	n/a
6	chr14:47311141-47311191	HCF	heart:	n/a
7	chr14:47311141-47311191	T-47D	breast:	n/a
8	chr14:47310377-47310427	BJ	skin:	n/a
9	chr14:47311141-47311191	HRE	kidney:	n/a
10	chr14:47310377-47310427	RPTEC	kidney:	n/a
11	chr14:47311141-47311191	HNPCEpiC	eye:	n/a
12	chr14:47311141-47311191	HEEpiC	esophagus:	n/a
13	chr14:47311141-47311191	Hela-S3	cervix:	n/a
14	chr14:47311141-47311191	GM12892	blood:	n/a
15	chr14:47310377-47310427	NHBE	bronchial:	n/a
16	chr14:47310377-47310427	MCF10A-Er-Src	breast:	n/a
17	chr14:47310377-47310427	U87	brain:	n/a
18	chr14:47310377-47310427	SAEC	small airway:	n/a
19	chr14:47311141-47311191	U87	brain:	n/a
20	chr14:47311141-47311191	ovcar-3	ovarian:	n/a
21	chr14:47311141-47311191	HL-60	blood:	n/a
22	chr14:47310377-47310427	SK-N-MC	brain:	n/a
23	chr14:47310377-47310427	HRCEpiC	kidney:	n/a
24	chr14:47311141-47311191	HCT-116	colon:	n/a
25	chr14:47310377-47310427	Hela-S3	cervix:	n/a
26	chr14:47310377-47310427	HCPEpiC	choroid plexus:	n/a
27	chr14:47311141-47311191	SKMC	muscle:	n/a
28	chr14:47310377-47310427	ProgFib	skin:	n/a
29	chr14:47310377-47310427	Jurkat	blood:	n/a
30	chr14:47310377-47310427	A549	lung:	n/a
31	chr14:47310377-47310427	AG04450	lung:	fetal
32	chr14:47310377-47310427	PANC-1	pancreas:	n/a
33	chr14:47311141-47311191	IMR90	lung:	fetal
34	chr14:47311141-47311191	GM06990	blood:	n/a
35	chr14:47311141-47311191	HepG2	liver:	n/a
36	chr14:47310377-47310427	NH-A	brain:	n/a
37	chr14:47311141-47311191	ProgFib	skin:	n/a
38	chr14:47311141-47311191	Caco-2	colon:	n/a
39	chr14:47311141-47311191	Hepatocyte	liver:	n/a
40	chr14:47311141-47311191	LNCaP	prostate:	n/a
41	chr14:47311141-47311191	PANC-1	pancreas:	n/a
42	chr14:47310377-47310427	AoSMC	blood vessel:	n/a
43	chr14:47310377-47310427	HEEpiC	esophagus:	n/a
44	chr14:47310377-47310427	AG10803	skin:	n/a
45	chr14:47310377-47310427	HIPEpiC	eye:	n/a
46	chr14:47310377-47310427	AG04449	skin:	fetal
47	chr14:47310377-47310427	NT2-D1	testis:	n/a
48	chr14:47311141-47311191	PrEC	prostate:	n/a
49	chr14:47310377-47310427	SK-N-SH_RA	brain:	n/a
50	chr14:47310377-47310427	HL-60	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:47190435..47193179-chr14:47198084..47200809,2	MCF-7	breast:
2	chr14:47196544..47199011-chr14:47199972..47202196,2	K562	blood:
3	chr14:47229054..47230571-chr14:47239361..47241042,2	K562	blood:
4	chr14:47190435..47193179-chr14:47198084..47200809,2	MCF-7	breast:
5	chr14:47196544..47199011-chr14:47199972..47202196,2	K562	blood:
6	chr14:47229054..47230571-chr14:47239361..47241042,2	K562	blood:

Variant related genes	Relation type
MDGA2	TF binding region
MDGA2	CpG island

Extended variants
information (count: 2655 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:2655 , 50 per page) page: 1 2 3 4 5 6 7 ... 54

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566863620	chr14:47163024-47163025	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs193280723	chr14:47163044-47163045	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs370665561	chr14:47163075-47163076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs570891575	chr14:47163108-47163109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538219782	chr14:47163133-47163134	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs116843933	chr14:47163135-47163136	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs111575978	chr14:47163150-47163151	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs185494664	chr14:47163154-47163155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs553884853	chr14:47163188-47163189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs567229414	chr14:47163193-47163194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs572068966	chr14:47163208-47163209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs57384417	chr14:47163218-47163219	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs540104390	chr14:47163222-47163223	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs67322864	chr14:47163259-47163260	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs75259336	chr14:47163286-47163287	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543013524	chr14:47163337-47163338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs200538115	chr14:47163389-47163390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573156496	chr14:47163393-47163394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs371390399	chr14:47163409-47163410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs562887700	chr14:47163418-47163419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs566652245	chr14:47163444-47163445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548516940	chr14:47163449-47163450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538459450	chr14:47163464-47163465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs527863585	chr14:47163469-47163470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs552666713	chr14:47163542-47163543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570953133	chr14:47163575-47163576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs151184447	chr14:47163628-47163629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189091585	chr14:47163665-47163666	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs542266329	chr14:47163675-47163676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs993507	chr14:47163686-47163687	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs535707077	chr14:47163707-47163708	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139094127	chr14:47163732-47163733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565893696	chr14:47163742-47163743	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs539239440	chr14:47163747-47163748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557469626	chr14:47163749-47163750	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs192078581	chr14:47163757-47163758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs115337833	chr14:47163760-47163761	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554899456	chr14:47163789-47163790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs530515720	chr14:47186401-47186402	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs375562931	chr14:47186497-47186498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs534906237	chr14:47186518-47186519	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs201106090	chr14:47186549-47186550	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374749577	chr14:47186553-47186554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs568730343	chr14:47186606-47186607	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs368409639	chr14:47186634-47186635	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190334425	chr14:47186659-47186660	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs547945076	chr14:47186660-47186661	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs146535555	chr14:47186668-47186669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374985392	chr14:47186717-47186718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs539960144	chr14:47186730-47186731	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Chronic myeloid leukemia	20724749	CNVD
Hodgkin''s lymphoma	17606441	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21785460	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21858162	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Renal cell carcinoma	18194544	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	19907438	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:47163000-47163800	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr14:47186400-47187400	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr14:47186600-47187000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr14:47186600-47187000	Enhancers	NH-A	brain
5	chr14:47186600-47187600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr14:47197800-47200400	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr14:47200400-47200600	Enhancers	Rectal Mucosa Donor 29	rectum
8	chr14:47200600-47203800	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr14:47201000-47202200	Enhancers	Fetal Intestine Small	intestine
10	chr14:47201800-47203800	Active TSS	Rectal Mucosa Donor 31	rectum
11	chr14:47202200-47203800	Active TSS	Fetal Intestine Small	intestine
12	chr14:47202400-47202800	Enhancers	Fetal Intestine Large	intestine
13	chr14:47202400-47203800	Active TSS	Duodenum Mucosa	Duodenum
14	chr14:47202800-47203200	Active TSS	Fetal Intestine Large	intestine
15	chr14:47203000-47203600	Active TSS	Colonic Mucosa	Colon
16	chr14:47203200-47203600	Flanking Active TSS	Fetal Intestine Large	intestine
17	chr14:47203200-47203600	Active TSS	Rectal Smooth Muscle	rectum
18	chr14:47203200-47203600	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr14:47203600-47203800	Active TSS	Fetal Intestine Large	intestine
20	chr14:47203800-47204200	Enhancers	Fetal Intestine Large	intestine
21	chr14:47215000-47216400	Enhancers	Fetal Intestine Large	intestine
22	chr14:47215000-47217200	Enhancers	Fetal Intestine Small	intestine
23	chr14:47216600-47217000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr14:47217000-47220800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr14:47220800-47221200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:47221200-47224200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:47224200-47224800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:47238200-47238400	Enhancers	GM12878-XiMat	blood
29	chr14:47238400-47238600	Flanking Active TSS	GM12878-XiMat	blood
30	chr14:47238400-47239000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr14:47238600-47239400	Enhancers	GM12878-XiMat	blood
32	chr14:47250200-47250600	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:47250200-47250600	ZNF genes & repeats	Liver	Liver
34	chr14:47250200-47250600	Active TSS	Gastric	stomach
35	chr14:47272400-47273400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:47285200-47285400	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr14:47285200-47288400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr14:47285400-47285800	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr14:47285800-47286200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr14:47286200-47287600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr14:47286200-47287600	Enhancers	Pancreatic Islets	Pancreatic Islet
42	chr14:47286800-47288000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr14:47286800-47288400	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr14:47286800-47288600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
45	chr14:47287000-47288200	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr14:47287600-47287800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr14:47287600-47287800	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr14:47287600-47288000	Enhancers	ES-I3 Cell Line	embryonic stem cell
49	chr14:47287600-47288400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
50	chr14:47287600-47288400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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