Variant report

Variant	esv20053
Chromosome Location	chr14:19301795-19368848
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:122)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:122 , 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	CEBPB	chr14:19303507-19303883	HepG2	liver:	n/a	chr14:19303692-19303703
3	CEBPB	chr14:19303651-19303853	IMR90	lung:	n/a	chr14:19303692-19303703
4	CTCF	chr14:19360230-19360436	A549	lung:	n/a	chr14:19360288-19360301 chr14:19360341-19360350
5	CTCF	chr14:19355030-19355074	GM20000	blood:	n/a	n/a
6	CTCF	chr14:19323090-19323096	GM13976	blood:	n/a	n/a
7	CTCF	chr14:19360020-19360170	SAEC	small airway:	n/a	n/a
8	CTCF	chr14:19359840-19360539	K562	blood:	n/a	chr14:19360519-19360532 chr14:19360288-19360301 chr14:19360341-19360350
9	CTCF	chr14:19327137-19327152	GM20000	blood:	n/a	n/a
10	CTCF	chr14:19359886-19360206	A549	lung:	n/a	n/a
11	CTCF	chr14:19360247-19360406	LNCaP	prostate:	n/a	chr14:19360288-19360301 chr14:19360341-19360350
12	CTCF	chr14:19360330-19360389	Pancreas_OC	pancreas:	n/a	chr14:19360341-19360350
13	CTCF	chr14:19359989-19360048	SK-N-SH_RA	brain:	n/a	n/a
14	CTCF	chr14:19326798-19326879	Kidney_OC	kidney:	n/a	n/a
15	CTCF	chr14:19341080-19341134	GM20000	blood:	n/a	n/a
16	CTCF	chr14:19359797-19360476	A549	lung:	n/a	chr14:19360288-19360301 chr14:19360341-19360350
17	CTCF	chr14:19358133-19358166	GM10266	blood:	n/a	n/a
18	CTCF	chr14:19303734-19303771	LNCaP	prostate:	n/a	n/a
19	CTCF	chr14:19359947-19359949	LNCaP	prostate:	n/a	n/a
20	CTCF	chr14:19360233-19360488	A549	lung:	n/a	chr14:19360288-19360301 chr14:19360341-19360350
21	CTCF	chr14:19360012-19360088	Pancreas_OC	pancreas:	n/a	n/a
22	CTCF	chr14:19359966-19360185	K562	blood:	n/a	n/a
23	CTCF	chr14:19325270-19325281	GM10248	blood:	n/a	n/a
24	CTCF	chr14:19360050-19360132	GM20000	blood:	n/a	n/a
25	CTCF	chr14:19360045-19360120	GM13977	blood:	n/a	n/a
26	CTCF	chr14:19360225-19360443	A549	lung:	n/a	chr14:19360288-19360301 chr14:19360341-19360350
27	CTCF	chr14:19359863-19360106	A549	lung:	n/a	n/a
28	CTCF	chr14:19360254-19360418	LNCaP	prostate:	n/a	chr14:19360288-19360301 chr14:19360341-19360350
29	CTCF	chr14:19356462-19356526	GM13976	blood:	n/a	n/a
30	CTCF	chr14:19359960-19360110	GM12872	blood:	n/a	n/a
31	CTCF	chr14:19359940-19360090	BJ	skin:	n/a	n/a
32	CTCF	chr14:19336911-19336927	GM20000	blood:	n/a	n/a
33	CTCF	chr14:19309043-19309075	Medullo	brain:	n/a	n/a
34	CTCF	chr14:19359916-19360193	K562	blood:	n/a	n/a
35	CTCF	chr14:19359980-19360130	K562	blood:	n/a	n/a
36	CTCF	chr14:19360209-19360445	K562	blood:	n/a	chr14:19360288-19360301 chr14:19360341-19360350
37	CTCF	chr14:19359953-19360138	LNCaP	prostate:	n/a	n/a
38	CTCF	chr14:19357542-19357582	GM20000	blood:	n/a	n/a
39	CTCF	chr14:19356156-19356185	GM10266	blood:	n/a	n/a
40	CTCF	chr14:19359960-19360110	SK-N-SH_RA	brain:	n/a	n/a
41	CTCF	chr14:19360020-19360170	HMEC	breast:	n/a	n/a
42	CTCF	chr14:19314929-19315024	LNCaP	prostate:	n/a	n/a
43	CTCF	chr14:19359870-19360188	A549	lung:	n/a	n/a
44	CTCF	chr14:19359923-19360138	LNCaP	prostate:	n/a	n/a
45	CTCF	chr14:19330799-19330831	ProgFib	skin:	n/a	n/a
46	CTCF	chr14:19356416-19356480	ProgFib	skin:	n/a	n/a
47	CTCF	chr14:19360324-19360479	GM20000	blood:	n/a	chr14:19360341-19360350
48	CTCF	chr14:19360039-19360147	GM10266	blood:	n/a	n/a
49	CTCF	chr14:19313717-19313739	Pancreas_OC	pancreas:	n/a	n/a
50	CTCF	chr14:19360020-19360111	GM10248	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:19360467-19360517	ProgFib	skin:	n/a
2	chr14:19360467-19360517	GM12878	blood:	n/a
3	chr14:19360878-19360928	T-47D	breast:	n/a
4	chr14:19360467-19360517	HRE	kidney:	n/a
5	chr14:19360878-19360928	GM12892	blood:	n/a
6	chr14:19360467-19360517	NB4	blood:	n/a
7	chr14:19360878-19360928	ProgFib	skin:	n/a
8	chr14:19360467-19360517	IMR90	lung:	fetal
9	chr14:19360467-19360517	HNPCEpiC	eye:	n/a
10	chr14:19360878-19360928	NHDF-neo	bronchial:	n/a
11	chr14:19360467-19360517	BJ	skin:	n/a
12	chr14:19360878-19360928	GM12891	blood:	n/a
13	chr14:19360878-19360928	BJ	skin:	n/a
14	chr14:19360878-19360928	HAEpiC	amniotic membrane:	n/a
15	chr14:19360467-19360517	CMK	blood:	n/a
16	chr14:19360467-19360517	SAEC	small airway:	n/a
17	chr14:19360467-19360517	SKMC	muscle:	n/a
18	chr14:19360467-19360517	PrEC	prostate:	n/a
19	chr14:19360878-19360928	SAEC	small airway:	n/a
20	chr14:19360878-19360928	PFSK-1	brain:	n/a
21	chr14:19360878-19360928	HNPCEpiC	eye:	n/a
22	chr14:19360878-19360928	A549	lung:	n/a
23	chr14:19360878-19360928	IMR90	lung:	fetal
24	chr14:19360467-19360517	HIPEpiC	eye:	n/a
25	chr14:19360467-19360517	PFSK-1	brain:	n/a
26	chr14:19360467-19360517	HMEC	breast:	n/a
27	chr14:19360878-19360928	PrEC	prostate:	n/a
28	chr14:19360878-19360928	AG04449	skin:	fetal
29	chr14:19360878-19360928	Caco-2	colon:	n/a
30	chr14:19360467-19360517	AG04449	skin:	fetal
31	chr14:19360467-19360517	LNCaP	prostate:	n/a
32	chr14:19360878-19360928	BE2_C	brain:	n/a
33	chr14:19360467-19360517	HCPEpiC	choroid plexus:	n/a
34	chr14:19360878-19360928	PANC-1	pancreas:	n/a
35	chr14:19360467-19360517	NT2-D1	testis:	n/a
36	chr14:19360878-19360928	HCPEpiC	choroid plexus:	n/a
37	chr14:19360467-19360517	Hela-S3	cervix:	n/a
38	chr14:19360467-19360517	NH-A	brain:	n/a
39	chr14:19360878-19360928	NH-A	brain:	n/a
40	chr14:19360467-19360517	NHDF-neo	bronchial:	n/a
41	chr14:19360878-19360928	RPTEC	kidney:	n/a
42	chr14:19360467-19360517	GM06990	blood:	n/a
43	chr14:19360878-19360928	HEEpiC	esophagus:	n/a
44	chr14:19360878-19360928	HMEC	breast:	n/a
45	chr14:19360878-19360928	AG09319	gingival:	n/a
46	chr14:19360878-19360928	NT2-D1	testis:	n/a
47	chr14:19360467-19360517	U87	brain:	n/a
48	chr14:19360467-19360517	SK-N-MC	brain:	n/a
49	chr14:19360878-19360928	HUVEC	blood vessel:	n/a
50	chr14:19360467-19360517	MCF10A-Er-Src	breast:	n/a

No data

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-OR11H12.1-2	chr14:19345173-19345267	NONHSAT035436
2	lnc-OR11H12.1-2	chr14:19341921-19341993	NONHSAT035436
3	lnc-OR11H12.1-2	chr14:19339405-19339552	NONHSAT035436
4	lnc-OR11H12.1-2	chr14:19340299-19340388	NONHSAT035436
5	lnc-POTEM-10	chr14:19332154-19332599	ENSG00000257959.1

No data

Variant related genes	Relation type
ENSG00000257825	TF binding region
ENSG00000258367	TF binding region
ENSG00000257721	TF binding region
ENSG00000257825	CpG island
ENSG00000258367	CpG island
ENSG00000257721	CpG island

Extended variants
information (count: 73 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539593447	chr14:19332182-19332183	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs561033056	chr14:19332252-19332253	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs557834962	chr14:19332486-19332487	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs569778895	chr14:19332508-19332509	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs537067324	chr14:19332522-19332523	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs555319639	chr14:19332537-19332538	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
7	rs574285353	chr14:19332581-19332582	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs569842234	chr14:19334122-19334123	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs562859976	chr14:19337474-19337475	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs200380175	chr14:19337476-19337477	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs530471953	chr14:19337513-19337514	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs565664800	chr14:19339183-19339184	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs532907990	chr14:19339224-19339225	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs558048246	chr14:19339417-19339418	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs576302716	chr14:19339418-19339419	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs543685890	chr14:19339436-19339437	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs562294917	chr14:19339438-19339439	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs529023683	chr14:19339504-19339505	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs541121515	chr14:19339506-19339507	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs113680245	chr14:19339512-19339513	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs559448191	chr14:19339534-19339535	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs374943822	chr14:19339542-19339543	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
23	rs190077115	chr14:19339550-19339551	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs544090426	chr14:19340300-19340301	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs555735370	chr14:19340332-19340333	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs574184084	chr14:19340347-19340348	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs541228290	chr14:19340371-19340372	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs535318111	chr14:19345194-19345195	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs553995257	chr14:19345209-19345210	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs200024567	chr14:19345235-19345236	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs573417657	chr14:19345262-19345263	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs200759451	chr14:19364816-19364817	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs552997087	chr14:19364936-19364937	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs138515461	chr14:19364959-19364960	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs577917815	chr14:19364995-19364996	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs544670246	chr14:19364996-19364997	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs201672812	chr14:19365003-19365004	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs563330805	chr14:19365006-19365007	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs140120645	chr14:19365010-19365011	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs542334613	chr14:19365022-19365023	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs561911701	chr14:19365133-19365134	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs529453669	chr14:19365218-19365219	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs548021258	chr14:19365252-19365253	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs566238440	chr14:19365381-19365382	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs200309239	chr14:19365393-19365394	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs78188837	chr14:19365450-19365451	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs61969138	chr14:19365467-19365468	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs533718534	chr14:19365485-19365486	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs551466576	chr14:19365492-19365493	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs570090448	chr14:19365496-19365497	Inactive region	TF binding region	1 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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Bladder cancer	21909424	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

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

No data

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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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