Variant report

Variant	nsv563582
Chromosome Location	chr14:19266138-19376736
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:147)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:147 , 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	chr14:19303651-19303853	IMR90	lung:	n/a	chr14:19303692-19303703
3	CEBPB	chr14:19303507-19303883	HepG2	liver:	n/a	chr14:19303692-19303703
4	CEBPB	chr14:19292550-19292762	HepG2	liver:	n/a	chr14:19292595-19292606
5	CTCF	chr14:19359797-19360476	A549	lung:	n/a	chr14:19360288-19360301 chr14:19360341-19360350
6	CTCF	chr14:19356462-19356526	GM13976	blood:	n/a	n/a
7	CTCF	chr14:19313717-19313739	Pancreas_OC	pancreas:	n/a	n/a
8	CTCF	chr14:19360012-19360088	Pancreas_OC	pancreas:	n/a	n/a
9	CTCF	chr14:19330799-19330831	ProgFib	skin:	n/a	n/a
10	CTCF	chr14:19355030-19355074	GM20000	blood:	n/a	n/a
11	CTCF	chr14:19359960-19360110	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr14:19363353-19363445	Pancreas_OC	pancreas:	n/a	n/a
13	CTCF	chr14:19356156-19356185	GM10266	blood:	n/a	n/a
14	CTCF	chr14:19360039-19360147	GM10266	blood:	n/a	n/a
15	CTCF	chr14:19359989-19360048	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr14:19325270-19325281	GM10248	blood:	n/a	n/a
17	CTCF	chr14:19309043-19309075	Medullo	brain:	n/a	n/a
18	CTCF	chr14:19359960-19360110	GM12872	blood:	n/a	n/a
19	CTCF	chr14:19359923-19360138	LNCaP	prostate:	n/a	n/a
20	CTCF	chr14:19314929-19315024	LNCaP	prostate:	n/a	n/a
21	CTCF	chr14:19360254-19360418	LNCaP	prostate:	n/a	chr14:19360288-19360301 chr14:19360341-19360350
22	CTCF	chr14:19356416-19356480	ProgFib	skin:	n/a	n/a
23	CTCF	chr14:19358133-19358166	GM10266	blood:	n/a	n/a
24	CTCF	chr14:19360020-19360111	GM10248	blood:	n/a	n/a
25	CTCF	chr14:19359947-19359949	LNCaP	prostate:	n/a	n/a
26	CTCF	chr14:19357542-19357582	GM20000	blood:	n/a	n/a
27	CTCF	chr14:19360045-19360120	GM13977	blood:	n/a	n/a
28	CTCF	chr14:19372802-19372819	GM13976	blood:	n/a	n/a
29	CTCF	chr14:19359940-19360090	BJ	skin:	n/a	n/a
30	CTCF	chr14:19359840-19360539	K562	blood:	n/a	chr14:19360519-19360532 chr14:19360288-19360301 chr14:19360341-19360350
31	CTCF	chr14:19369828-19369863	GM13976	blood:	n/a	n/a
32	CTCF	chr14:19360050-19360132	GM20000	blood:	n/a	n/a
33	CTCF	chr14:19360020-19360170	HMEC	breast:	n/a	n/a
34	CTCF	chr14:19360230-19360436	A549	lung:	n/a	chr14:19360288-19360301 chr14:19360341-19360350
35	CTCF	chr14:19303734-19303771	LNCaP	prostate:	n/a	n/a
36	CTCF	chr14:19359886-19360206	A549	lung:	n/a	n/a
37	CTCF	chr14:19359863-19360106	A549	lung:	n/a	n/a
38	CTCF	chr14:19270796-19270860	Spleen_OC	spleen:	n/a	n/a
39	CTCF	chr14:19336911-19336927	GM20000	blood:	n/a	n/a
40	CTCF	chr14:19360233-19360488	A549	lung:	n/a	chr14:19360288-19360301 chr14:19360341-19360350
41	CTCF	chr14:19359980-19360130	K562	blood:	n/a	n/a
42	CTCF	chr14:19360225-19360443	A549	lung:	n/a	chr14:19360288-19360301 chr14:19360341-19360350
43	CTCF	chr14:19359916-19360193	K562	blood:	n/a	n/a
44	CTCF	chr14:19341080-19341134	GM20000	blood:	n/a	n/a
45	CTCF	chr14:19359870-19360188	A549	lung:	n/a	n/a
46	CTCF	chr14:19290691-19290776	Spleen_OC	spleen:	n/a	n/a
47	CTCF	chr14:19327137-19327152	GM20000	blood:	n/a	n/a
48	CTCF	chr14:19359966-19360185	K562	blood:	n/a	n/a
49	CTCF	chr14:19360020-19360170	SAEC	small airway:	n/a	n/a
50	CTCF	chr14:19360209-19360445	K562	blood:	n/a	chr14:19360288-19360301 chr14:19360341-19360350

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:19360467-19360517	GM12891	blood:	n/a
2	chr14:19360467-19360517	NB4	blood:	n/a
3	chr14:19360878-19360928	GM06990	blood:	n/a
4	chr14:19360467-19360517	GM12878	blood:	n/a
5	chr14:19360878-19360928	MCF-7	breast:	n/a
6	chr14:19360878-19360928	HRE	kidney:	n/a
7	chr14:19360467-19360517	MCF10A-Er-Src	breast:	n/a
8	chr14:19360467-19360517	ECC-1	luminal epithelium:	n/a
9	chr14:19360467-19360517	T-47D	breast:	n/a
10	chr14:19360467-19360517	HNPCEpiC	eye:	n/a
11	chr14:19360467-19360517	PrEC	prostate:	n/a
12	chr14:19360878-19360928	Jurkat	blood:	n/a
13	chr14:19360878-19360928	HIPEpiC	eye:	n/a
14	chr14:19360878-19360928	ECC-1	luminal epithelium:	n/a
15	chr14:19360878-19360928	IMR90	lung:	fetal
16	chr14:19360467-19360517	GM06990	blood:	n/a
17	chr14:19360878-19360928	AoSMC	blood vessel:	n/a
18	chr14:19360467-19360517	K562	blood:	n/a
19	chr14:19360878-19360928	A549	lung:	n/a
20	chr14:19360878-19360928	HEK293	kidney:	embryo
21	chr14:19360467-19360517	PANC-1	pancreas:	n/a
22	chr14:19360467-19360517	H1-hESC	embryonic stem cell:	embryo
23	chr14:19360878-19360928	NHBE	bronchial:	n/a
24	chr14:19360878-19360928	HUVEC	blood vessel:	n/a
25	chr14:19360878-19360928	HRCEpiC	kidney:	n/a
26	chr14:19360467-19360517	AG04450	lung:	fetal
27	chr14:19360878-19360928	GM12892	blood:	n/a
28	chr14:19360878-19360928	GM19239	blood:	n/a
29	chr14:19360878-19360928	GM12878	blood:	n/a
30	chr14:19360467-19360517	SK-N-MC	brain:	n/a
31	chr14:19360878-19360928	HRPEpiC	eye:	n/a
32	chr14:19360467-19360517	SK-N-SH	brain:	n/a
33	chr14:19360878-19360928	HCPEpiC	choroid plexus:	n/a
34	chr14:19360467-19360517	AG10803	skin:	n/a
35	chr14:19360467-19360517	HEK293	kidney:	embryo
36	chr14:19360878-19360928	CMK	blood:	n/a
37	chr14:19360878-19360928	NB4	blood:	n/a
38	chr14:19360467-19360517	HCM	heart:	n/a
39	chr14:19360467-19360517	HCF	heart:	n/a
40	chr14:19360878-19360928	Hepatocyte	liver:	n/a
41	chr14:19360878-19360928	BE2_C	brain:	n/a
42	chr14:19360467-19360517	HUVEC	blood vessel:	n/a
43	chr14:19360467-19360517	HCPEpiC	choroid plexus:	n/a
44	chr14:19360878-19360928	HPAEpiC	pulmonary alveolar:	n/a
45	chr14:19360878-19360928	HL-60	blood:	n/a
46	chr14:19360467-19360517	HRPEpiC	eye:	n/a
47	chr14:19360467-19360517	U87	brain:	n/a
48	chr14:19360878-19360928	U87	brain:	n/a
49	chr14:19360467-19360517	NHBE	bronchial:	n/a
50	chr14:19360467-19360517	LNCaP	prostate:	n/a

No data

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-POTEM-10	chr14:19332154-19332599	ENSG00000257959.1
2	lnc-OR11H12.1-2	chr14:19345173-19345267	NONHSAT035436
3	lnc-OR11H12.1-2	chr14:19340299-19340388	NONHSAT035436
4	lnc-OR11H12.1-2	chr14:19341921-19341993	NONHSAT035436
5	lnc-OR11H12.1-2	chr14:19339405-19339552	NONHSAT035436
6	lnc-POTEM-10	chr14:19372736-19372787	ENSG00000257959.1

No data

Variant related genes	Relation type
ENSG00000257825	TF binding region
ENSG00000257959	TF binding region
ENSG00000258367	TF binding region
ENSG00000257721	TF binding region
OR11H12	TF binding region
ENSG00000257825	CpG island
ENSG00000257959	CpG island
ENSG00000258367	CpG island
ENSG00000257721	CpG island
OR11H12	CpG island

Extended variants
information (count: 248 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:248 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs112240071	chr14:19266138-19266139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs556259037	chr14:19266156-19266157	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs572550338	chr14:19266158-19266159	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs574517973	chr14:19266171-19266172	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs28874340	chr14:19266184-19266185	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs560444629	chr14:19266189-19266190	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs374205796	chr14:19266204-19266205	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs572234192	chr14:19266211-19266212	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs200336142	chr14:19266220-19266221	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs151311848	chr14:19266253-19266254	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs564126779	chr14:19266254-19266255	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs541471461	chr14:19266265-19266266	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs531373374	chr14:19266275-19266276	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs190066930	chr14:19266289-19266290	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs28788828	chr14:19266292-19266293	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs530067416	chr14:19266346-19266347	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs183054763	chr14:19266375-19266376	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs567194703	chr14:19266380-19266381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs373418647	chr14:19266389-19266390	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs34305697	chr14:19266397-19266398	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs527987104	chr14:19266403-19266404	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs577200044	chr14:19266405-19266406	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs552791838	chr14:19266455-19266456	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs114048350	chr14:19266491-19266492	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs538424424	chr14:19266529-19266530	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs116397039	chr14:19266530-19266531	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs113326012	chr14:19266534-19266535	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs377713120	chr14:19266549-19266550	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs553496047	chr14:19266555-19266556	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs571958163	chr14:19266571-19266572	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs545798670	chr14:19266584-19266585	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs371365019	chr14:19266597-19266598	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs147592100	chr14:19266629-19266630	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs78432465	chr14:19266640-19266641	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs562692169	chr14:19266645-19266646	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs187214417	chr14:19266667-19266668	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs542269449	chr14:19266675-19266676	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs377145367	chr14:19266679-19266680	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs560290836	chr14:19266682-19266683	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs527659516	chr14:19266690-19266691	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs142034015	chr14:19266734-19266735	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs571137772	chr14:19266735-19266736	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs531989090	chr14:19266744-19266745	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs75113096	chr14:19266747-19266748	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs34786711	chr14:19266781-19266782	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs550387528	chr14:19266782-19266783	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs568625944	chr14:19266783-19266784	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs193109668	chr14:19266816-19266817	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs553800761	chr14:19266817-19266818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs76821239	chr14:19266820-19266821	ZNF genes & repeats	n/a	n/a	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:4 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:19265400-19268400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr14:19265800-19266200	ZNF genes & repeats	Fetal Heart	heart
3	chr14:19265800-19268200	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
4	chr14:19267800-19268200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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