Variant report

Variant	nsv563607
Chromosome Location	chr14:19340393-19379333
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:104)
CpG islands
(count:184)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:104 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr14:19352644-19352904	GM12878	blood:	n/a	n/a
2	CTCF	chr14:19359870-19360188	A549	lung:	n/a	n/a
3	CTCF	chr14:19359797-19360476	A549	lung:	n/a	chr14:19360288-19360301 chr14:19360341-19360350
4	CTCF	chr14:19360039-19360147	GM10266	blood:	n/a	n/a
5	CTCF	chr14:19359966-19360185	K562	blood:	n/a	n/a
6	CTCF	chr14:19369828-19369863	GM13976	blood:	n/a	n/a
7	CTCF	chr14:19360020-19360170	SAEC	small airway:	n/a	n/a
8	CTCF	chr14:19359863-19360106	A549	lung:	n/a	n/a
9	CTCF	chr14:19356416-19356480	ProgFib	skin:	n/a	n/a
10	CTCF	chr14:19359953-19360138	LNCaP	prostate:	n/a	n/a
11	CTCF	chr14:19359989-19360048	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr14:19359923-19360138	LNCaP	prostate:	n/a	n/a
13	CTCF	chr14:19357542-19357582	GM20000	blood:	n/a	n/a
14	CTCF	chr14:19379050-19379121	Kidney_OC	kidney:	n/a	n/a
15	CTCF	chr14:19356156-19356185	GM10266	blood:	n/a	n/a
16	CTCF	chr14:19360324-19360479	GM20000	blood:	n/a	chr14:19360341-19360350
17	CTCF	chr14:19360209-19360445	K562	blood:	n/a	chr14:19360288-19360301 chr14:19360341-19360350
18	CTCF	chr14:19360254-19360418	LNCaP	prostate:	n/a	chr14:19360288-19360301 chr14:19360341-19360350
19	CTCF	chr14:19356462-19356526	GM13976	blood:	n/a	n/a
20	CTCF	chr14:19359886-19360206	A549	lung:	n/a	n/a
21	CTCF	chr14:19360012-19360088	Pancreas_OC	pancreas:	n/a	n/a
22	CTCF	chr14:19358133-19358166	GM10266	blood:	n/a	n/a
23	CTCF	chr14:19363353-19363445	Pancreas_OC	pancreas:	n/a	n/a
24	CTCF	chr14:19359960-19360110	GM12872	blood:	n/a	n/a
25	CTCF	chr14:19360247-19360406	LNCaP	prostate:	n/a	chr14:19360288-19360301 chr14:19360341-19360350
26	CTCF	chr14:19359947-19359949	LNCaP	prostate:	n/a	n/a
27	CTCF	chr14:19360050-19360132	GM20000	blood:	n/a	n/a
28	CTCF	chr14:19360020-19360170	HMEC	breast:	n/a	n/a
29	CTCF	chr14:19359940-19360090	BJ	skin:	n/a	n/a
30	CTCF	chr14:19360045-19360120	GM13977	blood:	n/a	n/a
31	CTCF	chr14:19360230-19360436	A549	lung:	n/a	chr14:19360288-19360301 chr14:19360341-19360350
32	CTCF	chr14:19360330-19360389	Pancreas_OC	pancreas:	n/a	chr14:19360341-19360350
33	CTCF	chr14:19360020-19360111	GM10248	blood:	n/a	n/a
34	CTCF	chr14:19359980-19360130	K562	blood:	n/a	n/a
35	CTCF	chr14:19341080-19341134	GM20000	blood:	n/a	n/a
36	CTCF	chr14:19372802-19372819	GM13976	blood:	n/a	n/a
37	CTCF	chr14:19360233-19360488	A549	lung:	n/a	chr14:19360288-19360301 chr14:19360341-19360350
38	CTCF	chr14:19360225-19360443	A549	lung:	n/a	chr14:19360288-19360301 chr14:19360341-19360350
39	CTCF	chr14:19359960-19360110	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr14:19355030-19355074	GM20000	blood:	n/a	n/a
41	CTCF	chr14:19359840-19360539	K562	blood:	n/a	chr14:19360519-19360532 chr14:19360288-19360301 chr14:19360341-19360350
42	CTCF	chr14:19359916-19360193	K562	blood:	n/a	n/a
43	EP300	chr14:19365914-19366224	GM12878	blood:	n/a	n/a
44	EP300	chr14:19365153-19365415	GM12878	blood:	n/a	n/a
45	FOSL2	chr14:19373688-19374019	HepG2	liver:	n/a	chr14:19373901-19373910 chr14:19373964-19373973
46	FOSL2	chr14:19364509-19365510	HepG2	liver:	n/a	n/a
47	FOSL2	chr14:19363158-19364179	HepG2	liver:	n/a	chr14:19363948-19363960
48	FOSL2	chr14:19361756-19362098	HepG2	liver:	n/a	n/a
49	FOSL2	chr14:19365842-19366408	HepG2	liver:	n/a	chr14:19366387-19366396
50	FOSL2	chr14:19362137-19362379	HepG2	liver:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:19377109-19377159	ovcar-3	ovarian:	n/a
2	chr14:19377109-19377159	ovcar-3	ovarian:	n/a
3	chr14:19360878-19360928	SK-N-SH	brain:	n/a
4	chr14:19360878-19360928	K562	blood:	n/a
5	chr14:19360878-19360928	ProgFib	skin:	n/a
6	chr14:19360467-19360517	HCPEpiC	choroid plexus:	n/a
7	chr14:19377109-19377159	IMR90	lung:	fetal
8	chr14:19360467-19360517	BJ	skin:	n/a
9	chr14:19360878-19360928	SKMC	muscle:	n/a
10	chr14:19360467-19360517	NHDF-neo	bronchial:	n/a
11	chr14:19377109-19377159	AoSMC	blood vessel:	n/a
12	chr14:19377109-19377159	HIPEpiC	eye:	n/a
13	chr14:19377109-19377159	Caco-2	colon:	n/a
14	chr14:19360467-19360517	HCT-116	colon:	n/a
15	chr14:19360467-19360517	HEK293	kidney:	embryo
16	chr14:19360467-19360517	HepG2	liver:	n/a
17	chr14:19360878-19360928	AG09309	skin:	n/a
18	chr14:19360878-19360928	HL-60	blood:	n/a
19	chr14:19377109-19377159	T-47D	breast:	n/a
20	chr14:19377109-19377159	SK-N-SH	brain:	n/a
21	chr14:19377109-19377159	NB4	blood:	n/a
22	chr14:19377109-19377159	HRCEpiC	kidney:	n/a
23	chr14:19360467-19360517	ProgFib	skin:	n/a
24	chr14:19360878-19360928	BE2_C	brain:	n/a
25	chr14:19360467-19360517	AoSMC	blood vessel:	n/a
26	chr14:19360878-19360928	BJ	skin:	n/a
27	chr14:19360467-19360517	Caco-2	colon:	n/a
28	chr14:19377109-19377159	LNCaP	prostate:	n/a
29	chr14:19360878-19360928	GM06990	blood:	n/a
30	chr14:19360878-19360928	PFSK-1	brain:	n/a
31	chr14:19377109-19377159	K562	blood:	n/a
32	chr14:19360878-19360928	SK-N-MC	brain:	n/a
33	chr14:19360878-19360928	HEK293	kidney:	embryo
34	chr14:19360467-19360517	AG04449	skin:	fetal
35	chr14:19360878-19360928	Jurkat	blood:	n/a
36	chr14:19360467-19360517	GM12892	blood:	n/a
37	chr14:19377109-19377159	AG04449	skin:	fetal
38	chr14:19360878-19360928	HMEC	breast:	n/a
39	chr14:19360467-19360517	IMR90	lung:	fetal
40	chr14:19360467-19360517	Hepatocyte	liver:	n/a
41	chr14:19377109-19377159	BJ	skin:	n/a
42	chr14:19360878-19360928	AG04450	lung:	fetal
43	chr14:19360878-19360928	MCF-7	breast:	n/a
44	chr14:19360878-19360928	AG04449	skin:	fetal
45	chr14:19377109-19377159	AG10803	skin:	n/a
46	chr14:19360467-19360517	NT2-D1	testis:	n/a
47	chr14:19360467-19360517	RPTEC	kidney:	n/a
48	chr14:19360878-19360928	RPTEC	kidney:	n/a
49	chr14:19377109-19377159	Jurkat	blood:	n/a
50	chr14:19360467-19360517	MCF-7	breast:	n/a

No data

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTEM-10	chr14:19372736-19372787	ENSG00000257959.1
2	lnc-OR11H12.1-2	chr14:19345173-19345267	NONHSAT035436
3	lnc-OR11H12.1-2	chr14:19341921-19341993	NONHSAT035436

No data

Variant related genes	Relation type
ENSG00000257825	TF binding region
ENSG00000257959	TF binding region
OR11H12	TF binding region
ENSG00000257825	CpG island
ENSG00000257959	CpG island
OR11H12	CpG island

Extended variants
information (count: 52 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:52 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs535318111	chr14:19345194-19345195	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs553995257	chr14:19345209-19345210	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs200024567	chr14:19345235-19345236	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs573417657	chr14:19345262-19345263	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs200759451	chr14:19364816-19364817	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs552997087	chr14:19364936-19364937	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs138515461	chr14:19364959-19364960	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs577917815	chr14:19364995-19364996	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs544670246	chr14:19364996-19364997	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs201672812	chr14:19365003-19365004	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs563330805	chr14:19365006-19365007	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs140120645	chr14:19365010-19365011	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs542334613	chr14:19365022-19365023	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs561911701	chr14:19365133-19365134	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs529453669	chr14:19365218-19365219	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs548021258	chr14:19365252-19365253	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs566238440	chr14:19365381-19365382	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs200309239	chr14:19365393-19365394	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs78188837	chr14:19365450-19365451	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs61969138	chr14:19365467-19365468	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs533718534	chr14:19365485-19365486	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs551466576	chr14:19365492-19365493	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs570090448	chr14:19365496-19365497	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs369740322	chr14:19365503-19365504	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs537511493	chr14:19365504-19365505	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs549510842	chr14:19365509-19365510	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs567424381	chr14:19365515-19365516	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs185939991	chr14:19365534-19365535	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs553173879	chr14:19365535-19365536	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs577845667	chr14:19365537-19365538	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs538952611	chr14:19365545-19365546	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs556655299	chr14:19365550-19365551	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs574909063	chr14:19365551-19365552	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs542273312	chr14:19365560-19365561	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs541254273	chr14:19365804-19365805	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs559928539	chr14:19365858-19365859	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs533434333	chr14:19365948-19365949	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs375905170	chr14:19366337-19366338	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs369297293	chr14:19366358-19366359	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs372424608	chr14:19366364-19366365	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs552069494	chr14:19366383-19366384	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs200873213	chr14:19366398-19366399	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs373551295	chr14:19367505-19367506	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs371094568	chr14:19367523-19367524	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs528550407	chr14:19367530-19367531	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs547086624	chr14:19367533-19367534	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs199770506	chr14:19373645-19373646	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
48	rs61969148	chr14:19373916-19373917	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
49	rs145459725	chr14:19373981-19373982	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
50	rs140080877	chr14:19373992-19373993	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
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
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
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
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
Breast cancer	21364760	CNVD
Oligozoospermia	20877625	CNVD
Sertoli-cell only syndrome	20877625	CNVD
Ependymoma	20639864	CNVD
Williams Syndrome	20824207	CNVD
Developmental delay	21147756	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Bladder cancer	21909424	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:0 , 50 per page) page:

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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