Variant report

Variant	nsv948003
Chromosome Location	chr10:51894156-51912354
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BHLHE40	chr10:51903317-51903550	HepG2	liver:	n/a	n/a
2	CTCF	chr10:51902967-51903051	GM20000	blood:	n/a	n/a
3	CTCF	chr10:51909455-51909496	Kidney_OC	kidney:	n/a	n/a
4	CTCF	chr10:51900267-51900352	GM20000	blood:	n/a	n/a
5	CTCF	chr10:51906087-51906172	GM13976	blood:	n/a	n/a
6	CTCF	chr10:51897106-51897155	GM13977	blood:	n/a	n/a
7	CTCF	chr10:51896089-51896194	LNCaP	prostate:	n/a	n/a
8	CTCF	chr10:51903262-51903355	Pancreas_OC	pancreas:	n/a	n/a
9	CTCF	chr10:51904301-51904409	GM20000	blood:	n/a	n/a
10	CTCF	chr10:51904470-51904568	GM20000	blood:	n/a	n/a
11	CTCF	chr10:51904986-51905064	GM10266	blood:	n/a	n/a
12	CTCF	chr10:51901658-51901722	Medullo	brain:	n/a	n/a
13	CTCF	chr10:51902102-51902188	Spleen_OC	spleen:	n/a	n/a
14	CTCF	chr10:51906222-51906300	GM20000	blood:	n/a	n/a
15	CTCF	chr10:51911548-51911674	GM20000	blood:	n/a	n/a
16	CTCF	chr10:51902238-51902253	GM10266	blood:	n/a	n/a
17	CTCF	chr10:51905395-51905456	GM13977	blood:	n/a	n/a
18	FOSL2	chr10:51903598-51904342	HepG2	liver:	n/a	chr10:51903829-51903840
19	FOSL2	chr10:51906102-51906410	HepG2	liver:	n/a	n/a
20	FOSL2	chr10:51903563-51904054	HepG2	liver:	n/a	chr10:51903829-51903840
21	FOSL2	chr10:51903274-51903551	HepG2	liver:	n/a	n/a
22	FOXA1	chr10:51906149-51906414	HepG2	liver:	n/a	n/a
23	FOXA1	chr10:51903149-51904177	HepG2	liver:	n/a	n/a
24	JUND	chr10:51903325-51903603	HepG2	liver:	n/a	n/a
25	JUND	chr10:51903675-51903993	HepG2	liver:	n/a	n/a
26	JUND	chr10:51903721-51903932	HepG2	liver:	n/a	n/a
27	JUND	chr10:51903368-51903564	HepG2	liver:	n/a	n/a
28	PAX5	chr10:51895229-51895437	GM12878	blood:	n/a	chr10:51895308-51895326 chr10:51895309-51895328
29	POLR2A	chr10:51893323-51894156	GM12892	blood:	n/a	n/a
30	POLR2A	chr10:51903959-51904195	U87	brain:	n/a	n/a
31	RXRA	chr10:51906179-51906346	HepG2	liver:	n/a	chr10:51906249-51906258
32	SIX5	chr10:51906589-51906781	K562	blood:	n/a	n/a
33	SP1	chr10:51903943-51904289	HepG2	liver:	n/a	n/a
34	SP1	chr10:51903248-51903632	HepG2	liver:	n/a	n/a
35	USF1	chr10:51903331-51903548	HepG2	liver:	n/a	n/a
36	USF1	chr10:51903365-51903589	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:51911889-51911939	Hela-S3	cervix:	n/a
2	chr10:51911889-51911939	AG04449	skin:	fetal
3	chr10:51911889-51911939	AG09319	gingival:	n/a
4	chr10:51911889-51911939	Jurkat	blood:	n/a
5	chr10:51911889-51911939	IMR90	lung:	fetal
6	chr10:51911889-51911939	SK-N-MC	brain:	n/a
7	chr10:51911889-51911939	AG09309	skin:	n/a
8	chr10:51911889-51911939	GM12878	blood:	n/a
9	chr10:51911889-51911939	T-47D	breast:	n/a
10	chr10:51911889-51911939	NH-A	brain:	n/a
11	chr10:51911889-51911939	SK-N-SH	brain:	n/a
12	chr10:51911889-51911939	AG04450	lung:	fetal
13	chr10:51911889-51911939	SAEC	small airway:	n/a
14	chr10:51911889-51911939	HUVEC	blood vessel:	n/a
15	chr10:51911889-51911939	RPTEC	kidney:	n/a
16	chr10:51911889-51911939	AG10803	skin:	n/a
17	chr10:51911889-51911939	GM19239	blood:	n/a
18	chr10:51911889-51911939	HL-60	blood:	n/a
19	chr10:51911889-51911939	CMK	blood:	n/a
20	chr10:51911889-51911939	ECC-1	luminal epithelium:	n/a
21	chr10:51911889-51911939	HEK293	kidney:	embryo
22	chr10:51911889-51911939	PrEC	prostate:	n/a
23	chr10:51911889-51911939	NB4	blood:	n/a
24	chr10:51911889-51911939	HNPCEpiC	eye:	n/a
25	chr10:51911889-51911939	NHDF-neo	bronchial:	n/a
26	chr10:51911889-51911939	HRPEpiC	eye:	n/a
27	chr10:51911889-51911939	ovcar-3	ovarian:	n/a
28	chr10:51911889-51911939	K562	blood:	n/a
29	chr10:51911889-51911939	Caco-2	colon:	n/a
30	chr10:51911889-51911939	HEEpiC	esophagus:	n/a
31	chr10:51911889-51911939	GM12891	blood:	n/a
32	chr10:51911889-51911939	HIPEpiC	eye:	n/a
33	chr10:51911889-51911939	PFSK-1	brain:	n/a
34	chr10:51911889-51911939	ProgFib	skin:	n/a
35	chr10:51911889-51911939	HAEpiC	amniotic membrane:	n/a
36	chr10:51911889-51911939	HCPEpiC	choroid plexus:	n/a
37	chr10:51911889-51911939	MCF10A-Er-Src	breast:	n/a
38	chr10:51911889-51911939	NHBE	bronchial:	n/a
39	chr10:51911889-51911939	BJ	skin:	n/a
40	chr10:51911889-51911939	BE2_C	brain:	n/a
41	chr10:51911889-51911939	A549	lung:	n/a
42	chr10:51911889-51911939	HPAEpiC	pulmonary alveolar:	n/a
43	chr10:51911889-51911939	LNCaP	prostate:	n/a
44	chr10:51911889-51911939	HRE	kidney:	n/a
45	chr10:51911889-51911939	SKMC	muscle:	n/a
46	chr10:51911889-51911939	HCF	heart:	n/a
47	chr10:51911889-51911939	HepG2	liver:	n/a
48	chr10:51911889-51911939	SK-N-SH_RA	brain:	n/a
49	chr10:51911889-51911939	U87	brain:	n/a
50	chr10:51911889-51911939	H1-hESC	embryonic stem cell:	embryo

No data

Variant related genes	Relation type
SLC9A3P1	TF binding region
SLC9A3P1	CpG island

Extended variants
information (count: 45 )
Associated
traits (count: 64 )

Variant overlapped rSNPs/rCNVs (count:45 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530973791	chr10:51894179-51894180	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs544794716	chr10:51894252-51894253	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs200738258	chr10:51894253-51894254	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs567308388	chr10:51894265-51894266	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200154715	chr10:51894283-51894284	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs561565052	chr10:51894290-51894291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs530452043	chr10:51894308-51894309	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs548976699	chr10:51894322-51894323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs186671966	chr10:51894371-51894372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs193112812	chr10:51894379-51894380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs538687849	chr10:51894423-51894424	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528102867	chr10:51894428-51894429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs551147104	chr10:51894436-51894437	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571320909	chr10:51894437-51894438	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs4935486	chr10:51894442-51894443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs556776155	chr10:51894443-51894444	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs558109944	chr10:51894453-51894454	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs200610304	chr10:51894456-51894457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs552873604	chr10:51894463-51894464	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs572869384	chr10:51894483-51894484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539034241	chr10:51894492-51894493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs578121273	chr10:51894500-51894501	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs558737321	chr10:51894503-51894504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs575740200	chr10:51894504-51894505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs544470100	chr10:51894510-51894511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs374400288	chr10:51894513-51894514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs201689572	chr10:51894517-51894518	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs540893793	chr10:51894528-51894529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs199848338	chr10:51894562-51894563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs368444296	chr10:51894607-51894608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528027325	chr10:51894661-51894662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60643757	chr10:51894666-51894667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551400977	chr10:51894677-51894678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564817948	chr10:51894701-51894702	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201205253	chr10:51894715-51894716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550341935	chr10:51894727-51894728	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs17720367	chr10:51894750-51894751	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs202243028	chr10:51894778-51894779	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs183872760	chr10:51894868-51894869	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369316713	chr10:51894893-51894894	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs369700537	chr10:51894921-51894922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs376461707	chr10:51894938-51894939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs372558747	chr10:51894954-51894955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546449635	chr10:51894960-51894961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs2813275	chr10:51906246-51906247	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:64)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21785460	CNVD
Intellectual disability	21948486	CNVD
Intellectual disability	22045946	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
skeletal anomalies	21948486	CNVD
Autism	21948486	CNVD
speech delay	21948486	CNVD
Colorectal cancer	16272173	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Cancer	20164919	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:51883200-51895000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr10:51892800-51895600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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