Variant report

Variant	nsv1039270
Chromosome Location	chr10:96497884-96565616
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	chr10:96543674-96543836	HepG2	liver:	n/a	chr10:96543736-96543747
2	CEBPB	chr10:96520891-96521011	IMR90	lung:	n/a	chr10:96520959-96520970 chr10:96520961-96520970 chr10:96520960-96520971 chr10:96520961-96520970 chr10:96520961-96520970 chr10:96520961-96520970
3	CEBPB	chr10:96507808-96507867	A549	lung:	n/a	n/a
4	CEBPB	chr10:96520913-96521049	A549	lung:	n/a	chr10:96520959-96520970 chr10:96520961-96520970 chr10:96520960-96520971 chr10:96520961-96520970 chr10:96520961-96520970 chr10:96520961-96520970
5	CEBPB	chr10:96543674-96543868	A549	lung:	n/a	chr10:96543736-96543747
6	CEBPB	chr10:96504015-96504089	HepG2	liver:	n/a	chr10:96504062-96504073
7	CEBPB	chr10:96520862-96521099	HepG2	liver:	n/a	chr10:96520959-96520970 chr10:96520961-96520970 chr10:96520960-96520971 chr10:96520961-96520970 chr10:96520961-96520970 chr10:96520961-96520970
8	CTCF	chr10:96516926-96516994	Medullo	brain:	n/a	n/a
9	CTCF	chr10:96563080-96563230	RPTEC	kidney:	n/a	n/a
10	CTCF	chr10:96517820-96517970	HepG2	liver:	n/a	n/a
11	CTCF	chr10:96562980-96563130	RPTEC	kidney:	n/a	n/a
12	CTCF	chr10:96530910-96530967	H1-hESC	embryonic stem cell:	n/a	n/a
13	CTCF	chr10:96563100-96563250	MCF-7	breast:	n/a	n/a
14	CTCF	chr10:96512231-96512340	MCF-7	breast:	n/a	n/a
15	CTCF	chr10:96552160-96552310	Hela-S3	cervix:	n/a	n/a
16	CTCF	chr10:96534991-96535093	GM20000	blood:	n/a	n/a
17	CTCF	chr10:96505096-96505149	Kidney_OC	kidney:	n/a	n/a
18	CTCF	chr10:96530820-96530970	HEK293	kidney:	n/a	n/a
19	CTCF	chr10:96563126-96563151	HepG2	liver:	n/a	n/a
20	CTCF	chr10:96512257-96512384	MCF-7	breast:	n/a	n/a
21	E2F4	chr10:96511121-96511131	MCF10A-Er-Src	breast:	n/a	n/a
22	FOS	chr10:96545074-96545211	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr10:96545059-96545259	MCF10A-Er-Src	breast:	n/a	n/a
24	FOSL2	chr10:96507580-96508009	A549	lung:	n/a	n/a
25	FOXA1	chr10:96537732-96538220	HepG2	liver:	n/a	n/a
26	FOXA1	chr10:96537827-96538112	HepG2	liver:	n/a	n/a
27	FOXA1	chr10:96537857-96538090	A549	lung:	n/a	n/a
28	FOXA1	chr10:96537776-96538168	HepG2	liver:	n/a	n/a
29	FOXA1	chr10:96537765-96538162	HepG2	liver:	n/a	n/a
30	FOXA2	chr10:96537890-96538150	HepG2	liver:	n/a	n/a
31	FOXA2	chr10:96537753-96538278	A549	lung:	n/a	n/a
32	GATA3	chr10:96546749-96547154	SK-N-SH	brain:	n/a	n/a
33	MAFK	chr10:96541762-96541922	HepG2	liver:	n/a	n/a
34	NFYB	chr10:96561723-96561949	GM12878	blood:	n/a	n/a
35	NFYB	chr10:96533507-96533878	K562	blood:	n/a	n/a
36	NFYB	chr10:96523978-96524177	GM12878	blood:	n/a	n/a
37	NFYB	chr10:96523864-96524196	K562	blood:	n/a	n/a
38	NFYB	chr10:96561668-96562035	K562	blood:	n/a	n/a
39	NR3C1	chr10:96507640-96508067	A549	lung:	n/a	chr10:96507892-96507906
40	NR3C1	chr10:96507795-96507991	A549	lung:	n/a	chr10:96507892-96507906
41	NR3C1	chr10:96507806-96508040	A549	lung:	n/a	chr10:96507892-96507906
42	NR3C1	chr10:96537773-96538112	A549	lung:	n/a	n/a
43	POLR2A	chr10:96523762-96523895	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr10:96531769-96531782	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr10:96517925-96517936	MCF-7	breast:	n/a	n/a
46	POLR2A	chr10:96546589-96546708	MCF10A-Er-Src	breast:	n/a	n/a
47	POLR2A	chr10:96512025-96512058	A549	lung:	n/a	n/a
48	POLR2A	chr10:96512093-96512164	A549	lung:	n/a	n/a
49	POLR2A	chr10:96535019-96535071	A549	lung:	n/a	n/a
50	POLR2A	chr10:96540283-96540416	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:96521152-96521202	NB4	blood:	n/a
2	chr10:96521152-96521202	NB4	blood:	n/a
3	chr10:96522433-96522483	Hepatocyte	liver:	n/a
4	chr10:96522433-96522483	HCF	heart:	n/a
5	chr10:96523248-96523298	Hela-S3	cervix:	n/a
6	chr10:96523347-96523397	GM12891	blood:	n/a
7	chr10:96522433-96522483	AG04449	skin:	fetal
8	chr10:96521152-96521202	SAEC	small airway:	n/a
9	chr10:96521152-96521202	PrEC	prostate:	n/a
10	chr10:96522433-96522483	SK-N-SH_RA	brain:	n/a
11	chr10:96523248-96523298	NT2-D1	testis:	n/a
12	chr10:96523347-96523397	NH-A	brain:	n/a
13	chr10:96521086-96521136	HUVEC	blood vessel:	n/a
14	chr10:96521086-96521136	HCF	heart:	n/a
15	chr10:96523347-96523397	HCM	heart:	n/a
16	chr10:96522433-96522483	AG09319	gingival:	n/a
17	chr10:96521086-96521136	NHDF-neo	bronchial:	n/a
18	chr10:96521152-96521202	BJ	skin:	n/a
19	chr10:96521086-96521136	T-47D	breast:	n/a
20	chr10:96523347-96523397	GM12878	blood:	n/a
21	chr10:96523248-96523298	Jurkat	blood:	n/a
22	chr10:96523347-96523397	HEK293	kidney:	embryo
23	chr10:96521086-96521136	PrEC	prostate:	n/a
24	chr10:96521152-96521202	CMK	blood:	n/a
25	chr10:96521086-96521136	HCM	heart:	n/a
26	chr10:96523248-96523298	HAEpiC	amniotic membrane:	n/a
27	chr10:96522433-96522483	U87	brain:	n/a
28	chr10:96523248-96523298	HRCEpiC	kidney:	n/a
29	chr10:96523347-96523397	ECC-1	luminal epithelium:	n/a
30	chr10:96521152-96521202	RPTEC	kidney:	n/a
31	chr10:96521086-96521136	HCPEpiC	choroid plexus:	n/a
32	chr10:96522433-96522483	K562	blood:	n/a
33	chr10:96522433-96522483	CMK	blood:	n/a
34	chr10:96523248-96523298	GM12878	blood:	n/a
35	chr10:96523248-96523298	HCT-116	colon:	n/a
36	chr10:96521086-96521136	GM19239	blood:	n/a
37	chr10:96523248-96523298	GM12892	blood:	n/a
38	chr10:96522433-96522483	GM12892	blood:	n/a
39	chr10:96523347-96523397	SK-N-SH_RA	brain:	n/a
40	chr10:96521086-96521136	ProgFib	skin:	n/a
41	chr10:96521152-96521202	PANC-1	pancreas:	n/a
42	chr10:96522433-96522483	NT2-D1	testis:	n/a
43	chr10:96521152-96521202	HRE	kidney:	n/a
44	chr10:96521086-96521136	HRPEpiC	eye:	n/a
45	chr10:96523248-96523298	SAEC	small airway:	n/a
46	chr10:96523248-96523298	NH-A	brain:	n/a
47	chr10:96521086-96521136	NH-A	brain:	n/a
48	chr10:96522433-96522483	MCF10A-Er-Src	breast:	n/a
49	chr10:96523347-96523397	GM19239	blood:	n/a
50	chr10:96522433-96522483	PFSK-1	brain:	n/a

Variant related genes	Relation type
MTND4P19	TF binding region
CYP2C19	TF binding region
MTND4P19	CpG island
CYP2C19	CpG island

Extended variants
information (count: 3340 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:3340 , 50 per page) page: 1 2 3 4 5 6 7 ... 67

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556432423	chr10:96497885-96497886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs576385217	chr10:96497891-96497892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs545345772	chr10:96497915-96497916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558556033	chr10:96497940-96497941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs572082377	chr10:96497971-96497972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs540725268	chr10:96497993-96497994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs548444845	chr10:96498013-96498014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs115423414	chr10:96498064-96498065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs529789350	chr10:96498083-96498084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs543188684	chr10:96498087-96498088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562767903	chr10:96498135-96498136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79988394	chr10:96498144-96498145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs560101954	chr10:96498154-96498155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs112584445	chr10:96498163-96498164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551671469	chr10:96498196-96498197	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192385387	chr10:96498219-96498220	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183702929	chr10:96498235-96498236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs187899866	chr10:96498236-96498237	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376139659	chr10:96498237-96498238	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs567733637	chr10:96498351-96498352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs370874541	chr10:96498377-96498378	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs374047367	chr10:96498383-96498384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs189657475	chr10:96498401-96498402	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113313532	chr10:96498410-96498411	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182280751	chr10:96498422-96498423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs202230100	chr10:96498450-96498451	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs187313729	chr10:96498471-96498472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs370781008	chr10:96498512-96498513	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs534108019	chr10:96498552-96498553	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572299561	chr10:96498600-96498601	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs371833710	chr10:96498663-96498664	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs75824363	chr10:96498723-96498724	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs77802880	chr10:96498767-96498768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574450320	chr10:96498793-96498794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs543134135	chr10:96498799-96498800	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112779036	chr10:96498813-96498814	Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
37	rs531796230	chr10:96498842-96498843	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs78730964	chr10:96498905-96498906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs565434662	chr10:96499001-96499002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs71505151	chr10:96499018-96499019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146936789	chr10:96499025-96499026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs565234078	chr10:96499026-96499027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528010926	chr10:96499030-96499031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112192790	chr10:96499100-96499101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143560042	chr10:96499127-96499128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs150871928	chr10:96499170-96499171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs559132424	chr10:96499176-96499177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs116091564	chr10:96499178-96499179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs72816661	chr10:96499235-96499236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191715151	chr10:96499247-96499248	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
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
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
Prostate cancer	18632612	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	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
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Usher syndrome	20538994	CNVD
Medulloblastoma	16783165	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	20729466	CNVD
Prostate cancer	16573809	CNVD
Paraganglioma	17535989	CNVD
Submicroscopic aberration syndrome	21292638	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Pulmonary chondroma	17535989	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Colorectal cancer	18645599	CNVD
Polyposis syndrome	18645599	CNVD
Prostate cancer	17245344	CNVD
Glioblastoma multiforme	17369134	CNVD
Glioblastoma multiforme	21750150	CNVD
Breast cancer	22032731	CNVD
Ovarian cancer	20844748	CNVD
Glioblastoma multiforme	17002787	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21364760	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Wilms tumour	21544195	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	16397240	CNVD
Chronic lymphocytic leukemia	21049055	CNVD
Cervical cancer	21062161	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	24453001	CNVD
Breast cancer	16608533	CNVD
Intracranial aneurysm	16715129	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	20967226	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oligozoospermia	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96447200-96504800	Weak transcription	Stomach Mucosa	stomach
2	chr10:96484800-96502600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr10:96487400-96500800	Weak transcription	Fetal Intestine Small	intestine
4	chr10:96497000-96498800	Enhancers	Liver	Liver
5	chr10:96498800-96500200	Weak transcription	Liver	Liver
6	chr10:96499200-96500800	Weak transcription	Fetal Intestine Large	intestine
7	chr10:96500200-96500800	Strong transcription	Liver	Liver
8	chr10:96500800-96501000	ZNF genes & repeats	Liver	Liver
9	chr10:96500800-96501400	ZNF genes & repeats	Fetal Intestine Large	intestine
10	chr10:96500800-96501600	ZNF genes & repeats	Fetal Intestine Small	intestine
11	chr10:96501000-96501400	Strong transcription	Liver	Liver
12	chr10:96501400-96502000	Weak transcription	Liver	Liver
13	chr10:96502000-96503600	Strong transcription	Liver	Liver
14	chr10:96502600-96504200	Strong transcription	Duodenum Mucosa	Duodenum
15	chr10:96503200-96505400	ZNF genes & repeats	Fetal Intestine Small	intestine
16	chr10:96503600-96504400	Genic enhancers	Liver	Liver
17	chr10:96504200-96504600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
18	chr10:96504400-96505000	Weak transcription	Liver	Liver
19	chr10:96504600-96506400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr10:96504800-96505200	ZNF genes & repeats	Stomach Mucosa	stomach
21	chr10:96505000-96506400	Enhancers	Liver	Liver
22	chr10:96505200-96506800	Weak transcription	Stomach Mucosa	stomach
23	chr10:96505400-96511600	Weak transcription	Fetal Intestine Small	intestine
24	chr10:96506400-96507600	Enhancers	A549	lung
25	chr10:96506400-96508000	Flanking Active TSS	Liver	Liver
26	chr10:96506800-96508000	Enhancers	Stomach Mucosa	stomach
27	chr10:96507600-96508000	Flanking Active TSS	A549	lung
28	chr10:96508000-96509600	Enhancers	Liver	Liver
29	chr10:96509600-96517400	Weak transcription	Liver	Liver
30	chr10:96510400-96513400	Weak transcription	Fetal Intestine Large	intestine
31	chr10:96511600-96512200	Strong transcription	Fetal Intestine Small	intestine
32	chr10:96511800-96512200	Enhancers	Placenta	Placenta
33	chr10:96512200-96517200	Weak transcription	Fetal Intestine Small	intestine
34	chr10:96517200-96518200	ZNF genes & repeats	Fetal Intestine Small	intestine
35	chr10:96517400-96517600	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr10:96517400-96518200	ZNF genes & repeats	Liver	Liver
37	chr10:96517600-96517800	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr10:96517600-96518200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr10:96517600-96518200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr10:96517600-96518200	Enhancers	iPS-15b Cell Line	embryonic stem cell
41	chr10:96517600-96518200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr10:96517800-96518200	Enhancers	H9 Cell Line	embryonic stem cell
43	chr10:96517800-96518200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr10:96517800-96518200	ZNF genes & repeats	Fetal Stomach	stomach
45	chr10:96518000-96518200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr10:96518200-96518400	Active TSS	ES-I3 Cell Line	embryonic stem cell
47	chr10:96518200-96519600	Weak transcription	Liver	Liver
48	chr10:96519200-96519400	Enhancers	Duodenum Mucosa	Duodenum
49	chr10:96519600-96520800	Weak transcription	Duodenum Mucosa	Duodenum
50	chr10:96519600-96521400	Enhancers	Liver	Liver

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