Variant report

Variant	nsv976302
Chromosome Location	chr14:19056923-19195540
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	ARID3A	chr14:19108228-19108420	K562	blood:	n/a	n/a
2	ATF1	chr14:19103184-19103383	K562	blood:	n/a	n/a
3	ATF1	chr14:19100486-19100700	K562	blood:	n/a	n/a
4	BATF	chr14:19068281-19068796	GM12878	blood:	n/a	n/a
5	BATF	chr14:19135407-19135704	GM12878	blood:	n/a	n/a
6	BATF	chr14:19183485-19183643	GM12878	blood:	n/a	chr14:19183575-19183586
7	BATF	chr14:19135785-19136194	GM12878	blood:	n/a	n/a
8	BATF	chr14:19183487-19183665	GM12878	blood:	n/a	chr14:19183575-19183586
9	BATF	chr14:19135459-19135699	GM12878	blood:	n/a	n/a
10	BATF	chr14:19068287-19068696	GM12878	blood:	n/a	n/a
11	BATF	chr14:19123750-19124046	GM12878	blood:	n/a	n/a
12	BATF	chr14:19135762-19136474	GM12878	blood:	n/a	n/a
13	BATF	chr14:19136515-19136845	GM12878	blood:	n/a	n/a
14	BATF	chr14:19092736-19092938	GM12878	blood:	n/a	n/a
15	BCL11A	chr14:19135472-19135692	GM12878	blood:	n/a	n/a
16	BCL11A	chr14:19068208-19068791	GM12878	blood:	n/a	n/a
17	BCL11A	chr14:19068266-19068776	GM12878	blood:	n/a	n/a
18	BCL11A	chr14:19067208-19067513	GM12878	blood:	n/a	n/a
19	BCL11A	chr14:19078761-19078922	GM12878	blood:	n/a	n/a
20	BCL11A	chr14:19135271-19136438	GM12878	blood:	n/a	n/a
21	BCL11A	chr14:19135767-19136226	GM12878	blood:	n/a	n/a
22	BCL11A	chr14:19074338-19074669	GM12878	blood:	n/a	n/a
23	CEBPB	chr14:19092745-19092969	HepG2	liver:	n/a	n/a
24	CEBPB	chr14:19089242-19089541	IMR90	lung:	n/a	chr14:19089359-19089368 chr14:19089359-19089368 chr14:19089359-19089368 chr14:19089358-19089369 chr14:19089359-19089368
25	CEBPB	chr14:19103041-19103327	IMR90	lung:	n/a	n/a
26	CEBPB	chr14:19100481-19100733	A549	lung:	n/a	chr14:19100552-19100563
27	CEBPB	chr14:19089272-19089505	A549	lung:	n/a	chr14:19089359-19089368 chr14:19089359-19089368 chr14:19089359-19089368 chr14:19089358-19089369 chr14:19089359-19089368
28	CEBPB	chr14:19100152-19100721	HepG2	liver:	n/a	chr14:19100552-19100563
29	CEBPB	chr14:19100458-19100717	K562	blood:	n/a	chr14:19100552-19100563
30	CEBPB	chr14:19092708-19092951	A549	lung:	n/a	n/a
31	CEBPB	chr14:19089281-19089497	HepG2	liver:	n/a	chr14:19089359-19089368 chr14:19089359-19089368 chr14:19089359-19089368 chr14:19089358-19089369 chr14:19089359-19089368
32	CEBPB	chr14:19089242-19089442	K562	blood:	n/a	chr14:19089359-19089368 chr14:19089359-19089368 chr14:19089359-19089368 chr14:19089358-19089369 chr14:19089359-19089368
33	CEBPB	chr14:19109698-19109861	HepG2	liver:	n/a	n/a
34	CTCF	chr14:19175853-19175915	GM13976	blood:	n/a	n/a
35	CTCF	chr14:19108163-19108286	Gliobla	brain:	n/a	chr14:19108201-19108211 chr14:19108200-19108213 chr14:19108255-19108271 chr14:19108198-19108216 chr14:19108193-19108214 chr14:19108204-19108213 chr14:19108199-19108215 chr14:19108259-19108269
36	CTCF	chr14:19124804-19125017	A549	lung:	n/a	n/a
37	CTCF	chr14:19108093-19108383	H1-hESC	embryonic stem cell:	n/a	chr14:19108201-19108211 chr14:19108200-19108213 chr14:19108255-19108271 chr14:19108198-19108216 chr14:19108193-19108214 chr14:19108204-19108213 chr14:19108199-19108215 chr14:19108259-19108269
38	CTCF	chr14:19108460-19108610	Hela-S3	cervix:	n/a	n/a
39	CTCF	chr14:19108151-19108307	K562	blood:	n/a	chr14:19108201-19108211 chr14:19108200-19108213 chr14:19108255-19108271 chr14:19108198-19108216 chr14:19108193-19108214 chr14:19108204-19108213 chr14:19108199-19108215 chr14:19108259-19108269
40	CTCF	chr14:19108160-19108310	GM12870	blood:	n/a	chr14:19108201-19108211 chr14:19108200-19108213 chr14:19108255-19108271 chr14:19108198-19108216 chr14:19108193-19108214 chr14:19108204-19108213 chr14:19108199-19108215 chr14:19108259-19108269
41	CTCF	chr14:19108160-19108310	HA-sp	spinal cord:	n/a	chr14:19108201-19108211 chr14:19108200-19108213 chr14:19108255-19108271 chr14:19108198-19108216 chr14:19108193-19108214 chr14:19108204-19108213 chr14:19108199-19108215 chr14:19108259-19108269
42	CTCF	chr14:19152298-19152363	GM13976	blood:	n/a	n/a
43	CTCF	chr14:19108105-19108289	MCF-7	breast:	n/a	chr14:19108201-19108211 chr14:19108200-19108213 chr14:19108255-19108271 chr14:19108198-19108216 chr14:19108193-19108214 chr14:19108204-19108213 chr14:19108199-19108215 chr14:19108259-19108269
44	CTCF	chr14:19108160-19108310	GM12869	blood:	n/a	chr14:19108201-19108211 chr14:19108200-19108213 chr14:19108255-19108271 chr14:19108198-19108216 chr14:19108193-19108214 chr14:19108204-19108213 chr14:19108199-19108215 chr14:19108259-19108269
45	CTCF	chr14:19108160-19108310	HEK293	kidney:	n/a	chr14:19108201-19108211 chr14:19108200-19108213 chr14:19108255-19108271 chr14:19108198-19108216 chr14:19108193-19108214 chr14:19108204-19108213 chr14:19108199-19108215 chr14:19108259-19108269
46	CTCF	chr14:19124813-19124965	MCF-7	breast:	n/a	n/a
47	CTCF	chr14:19108140-19108290	GM06990	blood:	n/a	chr14:19108201-19108211 chr14:19108200-19108213 chr14:19108255-19108271 chr14:19108198-19108216 chr14:19108193-19108214 chr14:19108204-19108213 chr14:19108199-19108215 chr14:19108259-19108269
48	CTCF	chr14:19108140-19108290	NB4	blood:	n/a	chr14:19108201-19108211 chr14:19108200-19108213 chr14:19108255-19108271 chr14:19108198-19108216 chr14:19108193-19108214 chr14:19108204-19108213 chr14:19108199-19108215 chr14:19108259-19108269
49	CTCF	chr14:19173703-19173734	GM10266	blood:	n/a	n/a
50	CTCF	chr14:19110195-19110213	GM10248	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:19109438-19109488	NB4	blood:	n/a
2	chr14:19110297-19110347	BE2_C	brain:	n/a
3	chr14:19109768-19109818	NHDF-neo	bronchial:	n/a
4	chr14:19110297-19110347	HAEpiC	amniotic membrane:	n/a
5	chr14:19109768-19109818	AG09319	gingival:	n/a
6	chr14:19109768-19109818	HIPEpiC	eye:	n/a
7	chr14:19109768-19109818	HCT-116	colon:	n/a
8	chr14:19109768-19109818	NB4	blood:	n/a
9	chr14:19109768-19109818	HRE	kidney:	n/a
10	chr14:19109438-19109488	SAEC	small airway:	n/a
11	chr14:19109438-19109488	RPTEC	kidney:	n/a
12	chr14:19110297-19110347	U87	brain:	n/a
13	chr14:19109768-19109818	HepG2	liver:	n/a
14	chr14:19110297-19110347	GM19239	blood:	n/a
15	chr14:19109768-19109818	NT2-D1	testis:	n/a
16	chr14:19109438-19109488	NT2-D1	testis:	n/a
17	chr14:19110297-19110347	SAEC	small airway:	n/a
18	chr14:19110297-19110347	PFSK-1	brain:	n/a
19	chr14:19109768-19109818	AG09309	skin:	n/a
20	chr14:19109768-19109818	HAEpiC	amniotic membrane:	n/a
21	chr14:19109438-19109488	HRPEpiC	eye:	n/a
22	chr14:19109438-19109488	PANC-1	pancreas:	n/a
23	chr14:19110297-19110347	HPAEpiC	pulmonary alveolar:	n/a
24	chr14:19109438-19109488	HPAEpiC	pulmonary alveolar:	n/a
25	chr14:19110297-19110347	ProgFib	skin:	n/a
26	chr14:19109438-19109488	MCF10A-Er-Src	breast:	n/a
27	chr14:19110297-19110347	AoSMC	blood vessel:	n/a
28	chr14:19109768-19109818	HEK293	kidney:	embryo
29	chr14:19109768-19109818	AoSMC	blood vessel:	n/a
30	chr14:19109438-19109488	GM12878	blood:	n/a
31	chr14:19109768-19109818	GM12878	blood:	n/a
32	chr14:19110297-19110347	HRCEpiC	kidney:	n/a
33	chr14:19110297-19110347	CMK	blood:	n/a
34	chr14:19109438-19109488	BJ	skin:	n/a
35	chr14:19109438-19109488	LNCaP	prostate:	n/a
36	chr14:19110297-19110347	BJ	skin:	n/a
37	chr14:19109768-19109818	SK-N-MC	brain:	n/a
38	chr14:19110297-19110347	HCPEpiC	choroid plexus:	n/a
39	chr14:19109438-19109488	HCM	heart:	n/a
40	chr14:19109768-19109818	HUVEC	blood vessel:	n/a
41	chr14:19109768-19109818	AG04449	skin:	fetal
42	chr14:19109438-19109488	IMR90	lung:	fetal
43	chr14:19109438-19109488	K562	blood:	n/a
44	chr14:19109438-19109488	A549	lung:	n/a
45	chr14:19109768-19109818	GM12891	blood:	n/a
46	chr14:19110297-19110347	HIPEpiC	eye:	n/a
47	chr14:19109768-19109818	ECC-1	luminal epithelium:	n/a
48	chr14:19110297-19110347	ovcar-3	ovarian:	n/a
49	chr14:19109438-19109488	AG10803	skin:	n/a
50	chr14:19109438-19109488	AG09319	gingival:	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR11H12.1-6	chr14:19114720-19114893	NONHSAT035431
2	lnc-OR11H12.1-6	chr14:19117091-19117203	NONHSAT035431
3	lnc-OR11H12.1-6	chr14:19110203-19110377	NONHSAT035431
4	lnc-OR11H12.1-6	chr14:19118171-19118336	NONHSAT035431
5	lnc-OR11H12.1-6	chr14:19114450-19114555	NONHSAT035431
6	lnc-OR11H12.1-5	chr14:19195252-19195750	NONHSAT035433

Variant related genes	Relation type
ENSG00000215398	TF binding region
ENSG00000257171	TF binding region
RNU6-458P	TF binding region
ENSG00000257356	TF binding region
ENSG00000215398	CpG island
ENSG00000257171	CpG island
RNU6-458P	CpG island
ENSG00000257356	CpG island

Extended variants
information (count: 1495 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:1495 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs371158553	chr14:19068407-19068408	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs575204767	chr14:19068431-19068432	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs542480994	chr14:19068442-19068443	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs560694344	chr14:19068470-19068471	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs527396143	chr14:19068494-19068495	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs28630717	chr14:19068502-19068503	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs28667659	chr14:19068516-19068517	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs545855302	chr14:19068526-19068527	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs563940243	chr14:19068540-19068541	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs28654220	chr14:19068544-19068545	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs531241650	chr14:19068548-19068549	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs549344792	chr14:19068563-19068564	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs372470248	chr14:19068571-19068572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs28417618	chr14:19068574-19068575	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs568061475	chr14:19068590-19068591	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs28721282	chr14:19068592-19068593	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs547286397	chr14:19068596-19068597	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs113891356	chr14:19068648-19068649	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs565823015	chr14:19068653-19068654	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs534057924	chr14:19068664-19068665	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs558978600	chr14:19068668-19068669	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs570833384	chr14:19068671-19068672	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs538287155	chr14:19068687-19068688	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs556585848	chr14:19068703-19068704	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs575217442	chr14:19068736-19068737	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs28454336	chr14:19068740-19068741	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs542493494	chr14:19068748-19068749	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs554091742	chr14:19068754-19068755	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs572565308	chr14:19068762-19068763	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs138593602	chr14:19068765-19068766	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs546064298	chr14:19068766-19068767	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs112339319	chr14:19068782-19068783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs531302129	chr14:19068787-19068788	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs543056341	chr14:19068791-19068792	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs565495674	chr14:19071804-19071805	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs28436579	chr14:19071810-19071811	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs200316309	chr14:19071822-19071823	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs28535161	chr14:19071825-19071826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs28649165	chr14:19071827-19071828	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs533223784	chr14:19071834-19071835	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs191085554	chr14:19071846-19071847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs551175471	chr14:19071850-19071851	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs372802867	chr14:19071853-19071854	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs201099927	chr14:19071870-19071871	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs562622194	chr14:19071872-19071873	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs183160929	chr14:19071880-19071881	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs529790309	chr14:19071881-19071882	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs559331863	chr14:19071895-19071896	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs117694128	chr14:19071913-19071914	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs187495648	chr14:19071917-19071918	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Cancer	20164920	CNVD
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
Lung cancer	18438408	CNVD
Schizophrenia	21399695	CNVD
Cone-rod dystrophy	18421352	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
T-cell prolymphocytic leukemia	19278963	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
Hepatocellular carcinoma	16750200	CNVD
Acute lymphoblastic leukemia	17640729	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
Schizophrenia	20967226	CNVD
Autism	19287141	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	20932292	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	17142309	CNVD
Breast cancer	21364760	CNVD
Rett syndrome	21593744	CNVD
Breast cancer	20369283	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Incontinentia Pigmenti	22033527	CNVD
Breast cancer	22522925	CNVD
Myelofibrosis	22110671	CNVD
Alzheimer''s disease	21482944	CNVD
Mental retardation	19951919	CNVD
Neuroblastoma	21899760	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Heart disease	21282601	CNVD
Esophageal cancer	20955586	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Cancer	17440070	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
small cell lung cancer	20016488	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:19068400-19068800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr14:19071800-19073400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:19074000-19084000	Weak transcription	Right Atrium	heart
4	chr14:19075600-19076000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:19076000-19077400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:19077400-19077800	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr14:19093000-19093200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr14:19097000-19099000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
9	chr14:19106800-19109600	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
10	chr14:19108000-19110000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
11	chr14:19108200-19110200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:19108800-19110200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr14:19108800-19110600	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:19109000-19110000	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:19109000-19110400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:19109200-19110200	ZNF genes & repeats	Pancreas	Pancrea
17	chr14:19109400-19109600	ZNF genes & repeats	Fetal Brain Female	brain
18	chr14:19109400-19110000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr14:19109400-19110000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
20	chr14:19115400-19116400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
21	chr14:19116000-19116200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr14:19124000-19124200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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