Variant report

Variant	nsv550945
Chromosome Location	chr10:55493691-55539954
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:55531788-55532061	IMR90	lung:	n/a	chr10:55531918-55531929
2	CEBPB	chr10:55495099-55495137	K562	blood:	n/a	n/a
3	CEBPB	chr10:55495022-55495339	HepG2	liver:	n/a	n/a
4	CEBPB	chr10:55495107-55495314	A549	lung:	n/a	n/a
5	CEBPB	chr10:55539511-55539751	HepG2	liver:	n/a	n/a
6	CEBPB	chr10:55531808-55532061	HepG2	liver:	n/a	chr10:55531918-55531929
7	CEBPB	chr10:55531778-55532075	H1-hESC	embryonic stem cell:	n/a	chr10:55531918-55531929
8	CEBPB	chr10:55494993-55495303	IMR90	lung:	n/a	n/a
9	CHD1	chr10:55509966-55509970	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr10:55524100-55524202	GM10248	blood:	n/a	n/a
11	CTCF	chr10:55534240-55534390	HEEpiC	esophagus:	n/a	n/a
12	CTCF	chr10:55524100-55524203	Kidney_OC	kidney:	n/a	n/a
13	CTCF	chr10:55534240-55534390	HMEC	breast:	n/a	n/a
14	CTCF	chr10:55505454-55505474	GM13976	blood:	n/a	n/a
15	CTCF	chr10:55495240-55495390	Caco-2	colon:	n/a	n/a
16	CTCF	chr10:55534200-55534350	HEEpiC	esophagus:	n/a	n/a
17	CTCF	chr10:55505420-55505570	HEK293	kidney:	n/a	n/a
18	E2F4	chr10:55499586-55499784	MCF10A-Er-Src	breast:	n/a	n/a
19	FOS	chr10:55525124-55525451	MCF10A-Er-Src	breast:	n/a	chr10:55525294-55525303 chr10:55525293-55525303 chr10:55525292-55525304 chr10:55525293-55525302
20	FOS	chr10:55525124-55525472	MCF10A-Er-Src	breast:	n/a	chr10:55525294-55525303 chr10:55525293-55525303 chr10:55525292-55525304 chr10:55525293-55525302
21	FOS	chr10:55525146-55525447	MCF10A-Er-Src	breast:	n/a	chr10:55525294-55525303 chr10:55525293-55525303 chr10:55525292-55525304 chr10:55525293-55525302
22	FOS	chr10:55525146-55525434	MCF10A-Er-Src	breast:	n/a	chr10:55525294-55525303 chr10:55525293-55525303 chr10:55525292-55525304 chr10:55525293-55525302
23	FOSL2	chr10:55525156-55525422	SK-N-SH	brain:	n/a	chr10:55525294-55525303 chr10:55525293-55525303 chr10:55525292-55525304 chr10:55525293-55525302
24	GATA2	chr10:55530728-55530980	SH-SY5Y	brain:	n/a	n/a
25	GATA3	chr10:55521044-55521244	SH-SY5Y	brain:	n/a	n/a
26	GATA3	chr10:55524964-55525667	SK-N-SH	brain:	n/a	chr10:55525399-55525415
27	GATA3	chr10:55515402-55515674	SH-SY5Y	brain:	n/a	n/a
28	GATA3	chr10:55535669-55535869	SH-SY5Y	brain:	n/a	n/a
29	GATA3	chr10:55496980-55497180	SH-SY5Y	brain:	n/a	n/a
30	GATA3	chr10:55524957-55525626	SK-N-SH	brain:	n/a	chr10:55525399-55525415
31	JUND	chr10:55524956-55525595	SK-N-SH	brain:	n/a	chr10:55525294-55525303 chr10:55525293-55525303 chr10:55525292-55525304 chr10:55525292-55525303 chr10:55525293-55525302
32	JUND	chr10:55525131-55525461	HepG2	liver:	n/a	chr10:55525294-55525303 chr10:55525293-55525303 chr10:55525292-55525304 chr10:55525292-55525303 chr10:55525293-55525302
33	JUND	chr10:55525030-55525486	SK-N-SH	brain:	n/a	chr10:55525294-55525303 chr10:55525293-55525303 chr10:55525292-55525304 chr10:55525292-55525303 chr10:55525293-55525302
34	KAP1	chr10:55509249-55509524	HEK293	kidney:	n/a	n/a
35	KAP1	chr10:55530669-55531956	HEK293	kidney:	n/a	n/a
36	KAP1	chr10:55531386-55531985	U2OS	brain:	n/a	n/a
37	MAFF	chr10:55524414-55524654	HepG2	liver:	n/a	chr10:55524502-55524520
38	MAFK	chr10:55511924-55512124	HepG2	liver:	n/a	chr10:55512059-55512070 chr10:55512060-55512071 chr10:55512060-55512071
39	MAFK	chr10:55509816-55509849	HepG2	liver:	n/a	n/a
40	MAFK	chr10:55530983-55531292	HepG2	liver:	n/a	n/a
41	MAFK	chr10:55524396-55524657	HepG2	liver:	n/a	chr10:55524504-55524519 chr10:55524481-55524498
42	MAFK	chr10:55524465-55524582	HepG2	liver:	n/a	chr10:55524504-55524519 chr10:55524481-55524498
43	MAZ	chr10:55512915-55513098	HepG2	liver:	n/a	n/a
44	MAZ	chr10:55502463-55502530	HepG2	liver:	n/a	n/a
45	MYC	chr10:55515820-55515906	MCF10A-Er-Src	breast:	n/a	n/a
46	MYC	chr10:55529599-55529961	MCF10A-Er-Src	breast:	n/a	n/a
47	NANOG	chr10:55504657-55504853	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr10:55509836-55509981	MCF10A-Er-Src	breast:	n/a	n/a
49	POLR2A	chr10:55530625-55530996	H1-neurons	neurons:	n/a	n/a
50	POLR2A	chr10:55530641-55530978	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	10:55527193-55535408..10:55949104-55956834	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DKK1-4	chr10:55526160-55526374	NONHSAT013453

Variant related genes	Relation type
ENSG00000233805	TF binding region

Extended variants
information (count: 433 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:433 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs576893045	chr10:55498226-55498227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546265148	chr10:55498235-55498236	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs10825103	chr10:55498297-55498298	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs531933064	chr10:55498298-55498299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs825772	chr10:55498302-55498303	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs181726308	chr10:55498337-55498338	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542006492	chr10:55498342-55498343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs527282979	chr10:55498379-55498380	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541829455	chr10:55498388-55498389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs560213915	chr10:55498400-55498401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs547386372	chr10:55498410-55498411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs570575407	chr10:55498491-55498492	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs187407382	chr10:55498644-55498645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs549824354	chr10:55498651-55498652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs569797254	chr10:55498671-55498672	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs545925996	chr10:55498673-55498674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs564082990	chr10:55498702-55498703	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs114234067	chr10:55498727-55498728	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs6481034	chr10:55498758-55498759	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs6481035	chr10:55498774-55498775	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs371215877	chr10:55498816-55498817	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs553786055	chr10:55498825-55498826	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374054713	chr10:55498842-55498843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs144609536	chr10:55498850-55498851	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs78275186	chr10:55498913-55498914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs568329725	chr10:55498915-55498916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs367867242	chr10:55498934-55498935	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs190986736	chr10:55498991-55498992	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs56292646	chr10:55504229-55504230	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs397783014	chr10:55504230-55504231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs373990663	chr10:55504231-55504232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs376881934	chr10:55504232-55504233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371456236	chr10:55504233-55504234	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs531353909	chr10:55504263-55504264	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs548171311	chr10:55504277-55504278	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs183577779	chr10:55504309-55504310	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs188972274	chr10:55504323-55504324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs527413383	chr10:55504326-55504327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs2384308	chr10:55504337-55504338	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs570598245	chr10:55504342-55504343	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs539580365	chr10:55504375-55504376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4354616	chr10:55504389-55504390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs116161782	chr10:55504390-55504391	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs369639877	chr10:55504479-55504480	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs573441803	chr10:55504545-55504546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs144624159	chr10:55504551-55504552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537864915	chr10:55504635-55504636	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs76403834	chr10:55504669-55504670	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs375888501	chr10:55504671-55504672	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554578474	chr10:55504683-55504684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:69)

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
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
Obesity	21956041	CNVD
Developmental delay	21948486	CNVD
Intellectual disability	21948486	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
Colorectal cancer	16272173	CNVD
Metanephric adenoma	20802469	CNVD
Autism	20841430	CNVD
Mental retardation	17124404	CNVD
Epilepsy	20923578	CNVD
Prostate cancer	16573809	CNVD
Schizophrenia	19329560	CNVD
Heart failure	18772530	CNVD
Heart failure	18854381	CNVD
Hyperglycemia	19060297	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Glioblastoma multiforme	22286061	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Usher syndrome	20538994	CNVD
Glioblastoma multiforme	17002787	CNVD
Colorectal cancer	16774939	CNVD
Autism	20858243	CNVD
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD
Usher type I cohort	17277737	CNVD
Usher type I cohort	21436283	CNVD
Leukemia	21357790	CNVD
Medulloblastoma	22832581	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:55498200-55499000	Enhancers	Fetal Intestine Small	intestine
2	chr10:55504200-55504400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr10:55504400-55504800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr10:55504400-55504800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr10:55504400-55504800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr10:55504400-55505000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr10:55504400-55505200	Enhancers	H1 Cell Line	embryonic stem cell
8	chr10:55504400-55505200	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr10:55504400-55505200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr10:55505000-55505200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr10:55505200-55508000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr10:55508000-55509400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr10:55514200-55515000	Active TSS	Fetal Lung	lung
14	chr10:55514400-55514800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr10:55514400-55514800	Active TSS	Fetal Stomach	stomach
16	chr10:55514400-55514800	Active TSS	Right Atrium	heart
17	chr10:55514800-55515800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr10:55515000-55515600	Enhancers	Fetal Lung	lung
19	chr10:55515800-55516000	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr10:55521000-55521400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr10:55522400-55523200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr10:55531600-55531800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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