Variant report

Variant	nsv982327
Chromosome Location	chr9:99958095-99962059
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:99958515-99958595	GM13977	blood:	n/a	n/a
2	GABPA	chr9:99962057-99962412	Hela-S3	cervix:	n/a	n/a
3	HEY1	chr9:99962048-99962469	K562	blood:	n/a	n/a
4	HEY1	chr9:99961967-99962475	HepG2	liver:	n/a	n/a
5	POLR2A	chr9:99960522-99960534	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr9:99961971-99962539	HepG2	liver:	n/a	n/a
7	POLR2A	chr9:99962033-99962497	GM12892	blood:	n/a	n/a
8	POLR2A	chr9:99962053-99962473	GM12892	blood:	n/a	n/a
9	POLR2A	chr9:99962008-99962464	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr9:99957729-99958212	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr9:99958341-99958502	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr9:99962036-99962484	PFSK-1	brain:	n/a	n/a
13	POLR2A	chr9:99960225-99960516	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr9:99962010-99962559	MCF-7	breast:	n/a	n/a
15	POLR2A	chr9:99960756-99960944	Hela-S3	cervix:	n/a	n/a
16	POLR2A	chr9:99962042-99962519	SK-N-MC	brain:	n/a	n/a
17	POLR2A	chr9:99959305-99959475	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr9:99962053-99962495	A549	lung:	n/a	n/a
19	POLR2A	chr9:99959739-99961570	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr9:99962049-99962447	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr9:99959489-99959521	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr9:99960713-99961136	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr9:99959348-99959541	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr9:99961968-99962592	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr9:99960774-99960989	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr9:99962036-99962493	GM12878	blood:	n/a	n/a
27	POLR2A	chr9:99959714-99959834	H1-hESC	embryonic stem cell:	n/a	n/a
28	POLR2A	chr9:99962010-99962550	MCF-7	breast:	n/a	n/a
29	POLR2A	chr9:99962012-99962578	MCF-7	breast:	n/a	n/a
30	POLR2A	chr9:99962055-99962465	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr9:99962035-99962486	GM12892	blood:	n/a	n/a
32	POLR2A	chr9:99962034-99962611	K562	blood:	n/a	n/a
33	POLR2A	chr9:99960761-99960763	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr9:99959446-99959452	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr9:99959892-99960120	HepG2	liver:	n/a	n/a
36	POLR2A	chr9:99960113-99960519	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr9:99962040-99962516	Gliobla	brain:	n/a	n/a
38	POLR2A	chr9:99961995-99962509	GM12892	blood:	n/a	n/a
39	POLR2A	chr9:99959070-99962561	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr9:99961020-99961044	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr9:99961998-99962512	PFSK-1	brain:	n/a	n/a
42	POLR2A	chr9:99960553-99960734	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr9:99960742-99961158	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr9:99959909-99960103	H1-hESC	embryonic stem cell:	n/a	n/a
45	SIN3AK20	chr9:99962053-99962390	HepG2	liver:	n/a	n/a
46	SPI1	chr9:99962028-99962284	K562	blood:	n/a	n/a
47	TAF1	chr9:99962058-99962457	Hela-S3	cervix:	n/a	n/a
48	TAF1	chr9:99962057-99962407	GM12891	blood:	n/a	n/a
49	TAF1	chr9:99962058-99962455	HepG2	liver:	n/a	n/a
50	ZNF274	chr9:99959874-99960204	NT2-D1	testis:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:99962039-99962089	Caco-2	colon:	n/a
2	chr9:99962039-99962089	ProgFib	skin:	n/a
3	chr9:99962039-99962089	SK-N-MC	brain:	n/a
4	chr9:99962039-99962089	NB4	blood:	n/a
5	chr9:99962039-99962089	HEK293	kidney:	embryo
6	chr9:99962039-99962089	HL-60	blood:	n/a
7	chr9:99962039-99962089	RPTEC	kidney:	n/a
8	chr9:99962039-99962089	GM06990	blood:	n/a
9	chr9:99962039-99962089	Hela-S3	cervix:	n/a
10	chr9:99962039-99962089	T-47D	breast:	n/a
11	chr9:99962039-99962089	AoSMC	blood vessel:	n/a
12	chr9:99962039-99962089	AG09309	skin:	n/a
13	chr9:99962039-99962089	SKMC	muscle:	n/a
14	chr9:99962039-99962089	GM19239	blood:	n/a
15	chr9:99962039-99962089	LNCaP	prostate:	n/a
16	chr9:99962039-99962089	GM12892	blood:	n/a
17	chr9:99962039-99962089	ECC-1	luminal epithelium:	n/a
18	chr9:99962039-99962089	SK-N-SH_RA	brain:	n/a
19	chr9:99962039-99962089	H1-hESC	embryonic stem cell:	embryo
20	chr9:99962039-99962089	HNPCEpiC	eye:	n/a
21	chr9:99962039-99962089	NHBE	bronchial:	n/a
22	chr9:99962039-99962089	PrEC	prostate:	n/a
23	chr9:99962039-99962089	ovcar-3	ovarian:	n/a
24	chr9:99962039-99962089	NH-A	brain:	n/a
25	chr9:99962039-99962089	HCPEpiC	choroid plexus:	n/a
26	chr9:99962039-99962089	CMK	blood:	n/a
27	chr9:99962039-99962089	HMEC	breast:	n/a
28	chr9:99962039-99962089	SAEC	small airway:	n/a
29	chr9:99962039-99962089	HCM	heart:	n/a
30	chr9:99962039-99962089	HepG2	liver:	n/a
31	chr9:99962039-99962089	AG10803	skin:	n/a
32	chr9:99962039-99962089	HIPEpiC	eye:	n/a
33	chr9:99962039-99962089	HCF	heart:	n/a
34	chr9:99962039-99962089	HEEpiC	esophagus:	n/a
35	chr9:99962039-99962089	K562	blood:	n/a
36	chr9:99962039-99962089	Hepatocyte	liver:	n/a
37	chr9:99962039-99962089	HRE	kidney:	n/a
38	chr9:99962039-99962089	IMR90	lung:	fetal
39	chr9:99962039-99962089	HPAEpiC	pulmonary alveolar:	n/a
40	chr9:99962039-99962089	HRCEpiC	kidney:	n/a
41	chr9:99962039-99962089	U87	brain:	n/a
42	chr9:99962039-99962089	NT2-D1	testis:	n/a
43	chr9:99962039-99962089	HAEpiC	amniotic membrane:	n/a
44	chr9:99962039-99962089	PFSK-1	brain:	n/a
45	chr9:99962039-99962089	BJ	skin:	n/a
46	chr9:99962039-99962089	AG04449	skin:	fetal
47	chr9:99962039-99962089	Jurkat	blood:	n/a
48	chr9:99962039-99962089	HCT-116	colon:	n/a
49	chr9:99962039-99962089	HUVEC	blood vessel:	n/a
50	chr9:99962039-99962089	AG04450	lung:	fetal

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CTSL2-3	chr9:99958811-99958876	ENSG00000242375.1
2	lnc-CTSL2-3	chr9:99959802-99959969	ENSG00000242375.1
3	lnc-CTSL2-3	chr9:99957620-99958989	NONHSAT133488

No data

Variant related genes	Relation type
RNU6-798P	TF binding region
ZNF322P1	TF binding region
ENSG00000242375	TF binding region
RNU6-798P	CpG island
ZNF322P1	CpG island
ENSG00000242375	CpG island

Extended variants
information (count: 87 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200535955	chr9:99958098-99958099	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs527621140	chr9:99958126-99958127	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs542823096	chr9:99958157-99958158	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs561113947	chr9:99958185-99958186	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs149967981	chr9:99958202-99958203	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs549620681	chr9:99958332-99958333	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs201802017	chr9:99958524-99958525	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs571175439	chr9:99958546-99958547	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
9	rs532032235	chr9:99958607-99958608	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs551622885	chr9:99958610-99958611	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs566807138	chr9:99958766-99958767	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs534247016	chr9:99959250-99959251	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs149093290	chr9:99959341-99959342	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs567557431	chr9:99959351-99959352	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs545343419	chr9:99959357-99959358	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs556407276	chr9:99959402-99959403	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs577938188	chr9:99959428-99959429	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs545059887	chr9:99959531-99959532	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs554238122	chr9:99959545-99959546	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs572368944	chr9:99959605-99959606	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs185030536	chr9:99959650-99959651	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs116109586	chr9:99959667-99959668	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs561024455	chr9:99959680-99959681	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs531409627	chr9:99959696-99959697	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs543475693	chr9:99959707-99959708	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs189881460	chr9:99959745-99959746	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs532266386	chr9:99959760-99959761	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs546965941	chr9:99959778-99959779	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs576324546	chr9:99959782-99959783	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs377496094	chr9:99959820-99959821	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs369722137	chr9:99959847-99959848	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs373515238	chr9:99959860-99959861	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs549271546	chr9:99959950-99959951	Weak transcription	TF binding region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs200362706	chr9:99959993-99959994	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
35	rs567822228	chr9:99960003-99960004	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
36	rs16905669	chr9:99960031-99960032	Weak transcription	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs561949150	chr9:99960049-99960050	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
38	rs571629761	chr9:99960161-99960162	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
39	rs370374230	chr9:99960201-99960202	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
40	rs554199589	chr9:99960207-99960208	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
41	rs572480634	chr9:99960211-99960212	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
42	rs536504817	chr9:99960251-99960252	Weak transcription	TF binding region	2 gene(s)	Overlapped CNVs	n/a
43	rs554924583	chr9:99960356-99960357	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs576151316	chr9:99960408-99960409	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs543235391	chr9:99960498-99960499	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs565114529	chr9:99960560-99960561	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs576859362	chr9:99960609-99960610	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs148039788	chr9:99960626-99960627	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs141717582	chr9:99960674-99960675	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs199945358	chr9:99960676-99960677	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Leukemia	18688285	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Bipolar disorder	18458673	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Biliary cancer	19435499	CNVD
small cell lung cancer	20016488	CNVD
Intracranial aneurysm	16715129	CNVD
Cardiac fibroma	18329553	CNVD
Breast cancer	17133270	CNVD
Basal cell nevus syndrome	21572526	CNVD
Mental retardation	19951919	CNVD
Retinoblastoma	22278416	CNVD
9q22.3 microdeletion syndrome	22283845	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
overgrowth syndrome	16570072	CNVD
Neurodevelopmental disorder	22521361	CNVD
Nicotine dependence	17160897	CNVD
Mantle cell lymphoma	19029149	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:99942800-99962600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:99949200-99962400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr9:99956800-99961400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr9:99957400-99961200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr9:99957400-99961400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr9:99957400-99961800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr9:99957400-99962600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr9:99957600-99959600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr9:99957600-99961800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr9:99957600-99962000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr9:99957800-99961800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr9:99960000-99961800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr9:99961200-99961800	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr9:99961400-99968800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
15	chr9:99961400-99969200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
16	chr9:99961800-99962000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr9:99961800-99968800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
18	chr9:99961800-99969000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
19	chr9:99961800-99969000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
20	chr9:99961800-99969000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
21	chr9:99962000-99962400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
22	chr9:99962000-99967000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell

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