Variant report

Variant	nsv869918
Chromosome Location	chr10:96496856-96575687
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:75)
CpG islands
(count:306)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:75 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	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
2	CEBPB	chr10:96507808-96507867	A549	lung:	n/a	n/a
3	CEBPB	chr10:96543674-96543868	A549	lung:	n/a	chr10:96543736-96543747
4	CEBPB	chr10:96543674-96543836	HepG2	liver:	n/a	chr10:96543736-96543747
5	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
6	CEBPB	chr10:96504015-96504089	HepG2	liver:	n/a	chr10:96504062-96504073
7	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
8	CTCF	chr10:96534991-96535093	GM20000	blood:	n/a	n/a
9	CTCF	chr10:96512257-96512384	MCF-7	breast:	n/a	n/a
10	CTCF	chr10:96563126-96563151	HepG2	liver:	n/a	n/a
11	CTCF	chr10:96530910-96530967	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr10:96562980-96563130	RPTEC	kidney:	n/a	n/a
13	CTCF	chr10:96552160-96552310	Hela-S3	cervix:	n/a	n/a
14	CTCF	chr10:96563100-96563250	MCF-7	breast:	n/a	n/a
15	CTCF	chr10:96570817-96570874	GM13976	blood:	n/a	n/a
16	CTCF	chr10:96516926-96516994	Medullo	brain:	n/a	n/a
17	CTCF	chr10:96530820-96530970	HEK293	kidney:	n/a	n/a
18	CTCF	chr10:96517820-96517970	HepG2	liver:	n/a	n/a
19	CTCF	chr10:96512231-96512340	MCF-7	breast:	n/a	n/a
20	CTCF	chr10:96563080-96563230	RPTEC	kidney:	n/a	n/a
21	CTCF	chr10:96505096-96505149	Kidney_OC	kidney:	n/a	n/a
22	E2F4	chr10:96511121-96511131	MCF10A-Er-Src	breast:	n/a	n/a
23	FOS	chr10:96545074-96545211	MCF10A-Er-Src	breast:	n/a	n/a
24	FOS	chr10:96545059-96545259	MCF10A-Er-Src	breast:	n/a	n/a
25	FOSL2	chr10:96507580-96508009	A549	lung:	n/a	n/a
26	FOXA1	chr10:96537732-96538220	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	chr10:96573127-96573504	HepG2	liver:	n/a	n/a
30	FOXA1	chr10:96537827-96538112	HepG2	liver:	n/a	n/a
31	FOXA1	chr10:96537765-96538162	HepG2	liver:	n/a	n/a
32	FOXA2	chr10:96537890-96538150	HepG2	liver:	n/a	n/a
33	FOXA2	chr10:96573170-96573685	A549	lung:	n/a	n/a
34	FOXA2	chr10:96537753-96538278	A549	lung:	n/a	n/a
35	FOXA2	chr10:96573131-96573566	A549	lung:	n/a	n/a
36	GATA3	chr10:96546749-96547154	SK-N-SH	brain:	n/a	n/a
37	JUN	chr10:96566836-96566969	K562	blood:	n/a	n/a
38	MAFK	chr10:96541762-96541922	HepG2	liver:	n/a	n/a
39	NFYB	chr10:96523978-96524177	GM12878	blood:	n/a	n/a
40	NFYB	chr10:96533507-96533878	K562	blood:	n/a	n/a
41	NFYB	chr10:96523864-96524196	K562	blood:	n/a	n/a
42	NFYB	chr10:96561668-96562035	K562	blood:	n/a	n/a
43	NFYB	chr10:96561723-96561949	GM12878	blood:	n/a	n/a
44	NR3C1	chr10:96537773-96538112	A549	lung:	n/a	n/a
45	NR3C1	chr10:96507640-96508067	A549	lung:	n/a	chr10:96507892-96507906
46	NR3C1	chr10:96507795-96507991	A549	lung:	n/a	chr10:96507892-96507906
47	NR3C1	chr10:96507806-96508040	A549	lung:	n/a	chr10:96507892-96507906
48	NR3C1	chr10:96570652-96571031	A549	lung:	n/a	n/a
49	POLR2A	chr10:96512025-96512058	A549	lung:	n/a	n/a
50	POLR2A	chr10:96573778-96573808	A549	lung:	n/a	n/a

(count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:96521086-96521136	PFSK-1	brain:	n/a
2	chr10:96521086-96521136	PFSK-1	brain:	n/a
3	chr10:96522433-96522483	HRE	kidney:	n/a
4	chr10:96521152-96521202	A549	lung:	n/a
5	chr10:96523248-96523298	HUVEC	blood vessel:	n/a
6	chr10:96521086-96521136	BJ	skin:	n/a
7	chr10:96521152-96521202	CMK	blood:	n/a
8	chr10:96521086-96521136	SK-N-SH_RA	brain:	n/a
9	chr10:96523347-96523397	PrEC	prostate:	n/a
10	chr10:96522433-96522483	Jurkat	blood:	n/a
11	chr10:96523248-96523298	AG10803	skin:	n/a
12	chr10:96523248-96523298	AG04449	skin:	fetal
13	chr10:96522433-96522483	HEEpiC	esophagus:	n/a
14	chr10:96523347-96523397	HCPEpiC	choroid plexus:	n/a
15	chr10:96523248-96523298	IMR90	lung:	fetal
16	chr10:96521086-96521136	MCF-7	breast:	n/a
17	chr10:96523347-96523397	NHDF-neo	bronchial:	n/a
18	chr10:96523248-96523298	HCT-116	colon:	n/a
19	chr10:96523347-96523397	MCF-7	breast:	n/a
20	chr10:96523248-96523298	HL-60	blood:	n/a
21	chr10:96521086-96521136	NH-A	brain:	n/a
22	chr10:96523248-96523298	PrEC	prostate:	n/a
23	chr10:96523248-96523298	BE2_C	brain:	n/a
24	chr10:96521152-96521202	HAEpiC	amniotic membrane:	n/a
25	chr10:96521086-96521136	SAEC	small airway:	n/a
26	chr10:96523347-96523397	SK-N-SH_RA	brain:	n/a
27	chr10:96521152-96521202	HMEC	breast:	n/a
28	chr10:96522433-96522483	CMK	blood:	n/a
29	chr10:96521152-96521202	AG09319	gingival:	n/a
30	chr10:96521086-96521136	HEK293	kidney:	embryo
31	chr10:96521152-96521202	H1-hESC	embryonic stem cell:	embryo
32	chr10:96523347-96523397	SKMC	muscle:	n/a
33	chr10:96521086-96521136	A549	lung:	n/a
34	chr10:96521152-96521202	SK-N-SH	brain:	n/a
35	chr10:96523347-96523397	HCF	heart:	n/a
36	chr10:96521086-96521136	HNPCEpiC	eye:	n/a
37	chr10:96523248-96523298	H1-hESC	embryonic stem cell:	embryo
38	chr10:96522433-96522483	HIPEpiC	eye:	n/a
39	chr10:96523248-96523298	Caco-2	colon:	n/a
40	chr10:96523347-96523397	GM06990	blood:	n/a
41	chr10:96523248-96523298	ovcar-3	ovarian:	n/a
42	chr10:96523248-96523298	AoSMC	blood vessel:	n/a
43	chr10:96521152-96521202	PrEC	prostate:	n/a
44	chr10:96521152-96521202	BJ	skin:	n/a
45	chr10:96523248-96523298	HMEC	breast:	n/a
46	chr10:96523248-96523298	HNPCEpiC	eye:	n/a
47	chr10:96521086-96521136	SK-N-SH	brain:	n/a
48	chr10:96523248-96523298	GM19239	blood:	n/a
49	chr10:96522433-96522483	SK-N-SH	brain:	n/a
50	chr10:96521152-96521202	IMR90	lung:	fetal

No data

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

Extended variants
information (count: 3851 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:3851 , 50 per page) page: 1 2 3 4 5 6 7 ... 78

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549662829	chr10:96496894-96496895	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs373254797	chr10:96496920-96496921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs537841950	chr10:96496921-96496922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs557767842	chr10:96496930-96496931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546846966	chr10:96497014-96497015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs535814835	chr10:96497051-96497052	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs59955762	chr10:96497117-96497118	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs35172334	chr10:96497169-96497170	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs573794631	chr10:96497280-96497281	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542515528	chr10:96497289-96497290	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs532034808	chr10:96497304-96497305	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs113612625	chr10:96497346-96497347	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs576444954	chr10:96497391-96497392	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs375199375	chr10:96497405-96497406	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs551900393	chr10:96497424-96497425	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536754849	chr10:96497439-96497440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs568504265	chr10:96497449-96497450	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367884885	chr10:96497511-96497512	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545005170	chr10:96497518-96497519	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564903591	chr10:96497545-96497546	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549251371	chr10:96497549-96497550	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs181678607	chr10:96497568-96497569	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74465439	chr10:96497574-96497575	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs537483222	chr10:96497591-96497592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs79971635	chr10:96497684-96497685	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs549361673	chr10:96497712-96497713	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs569195748	chr10:96497726-96497727	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs538179598	chr10:96497738-96497739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551338368	chr10:96497739-96497740	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113072087	chr10:96497758-96497759	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs143207822	chr10:96497806-96497807	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186687918	chr10:96497813-96497814	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs148275718	chr10:96497835-96497836	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs573707779	chr10:96497848-96497849	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs111830981	chr10:96497877-96497878	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556432423	chr10:96497885-96497886	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs576385217	chr10:96497891-96497892	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545345772	chr10:96497915-96497916	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs558556033	chr10:96497940-96497941	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572082377	chr10:96497971-96497972	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs540725268	chr10:96497993-96497994	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs548444845	chr10:96498013-96498014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs115423414	chr10:96498064-96498065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs529789350	chr10:96498083-96498084	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543188684	chr10:96498087-96498088	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562767903	chr10:96498135-96498136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs79988394	chr10:96498144-96498145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs560101954	chr10:96498154-96498155	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs112584445	chr10:96498163-96498164	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs551671469	chr10:96498196-96498197	Enhancers 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:134 , 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	chr10:96495400-96497000	Weak transcription	Liver	Liver
5	chr10:96497000-96498800	Enhancers	Liver	Liver
6	chr10:96498800-96500200	Weak transcription	Liver	Liver
7	chr10:96499200-96500800	Weak transcription	Fetal Intestine Large	intestine
8	chr10:96500200-96500800	Strong transcription	Liver	Liver
9	chr10:96500800-96501000	ZNF genes & repeats	Liver	Liver
10	chr10:96500800-96501400	ZNF genes & repeats	Fetal Intestine Large	intestine
11	chr10:96500800-96501600	ZNF genes & repeats	Fetal Intestine Small	intestine
12	chr10:96501000-96501400	Strong transcription	Liver	Liver
13	chr10:96501400-96502000	Weak transcription	Liver	Liver
14	chr10:96502000-96503600	Strong transcription	Liver	Liver
15	chr10:96502600-96504200	Strong transcription	Duodenum Mucosa	Duodenum
16	chr10:96503200-96505400	ZNF genes & repeats	Fetal Intestine Small	intestine
17	chr10:96503600-96504400	Genic enhancers	Liver	Liver
18	chr10:96504200-96504600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
19	chr10:96504400-96505000	Weak transcription	Liver	Liver
20	chr10:96504600-96506400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr10:96504800-96505200	ZNF genes & repeats	Stomach Mucosa	stomach
22	chr10:96505000-96506400	Enhancers	Liver	Liver
23	chr10:96505200-96506800	Weak transcription	Stomach Mucosa	stomach
24	chr10:96505400-96511600	Weak transcription	Fetal Intestine Small	intestine
25	chr10:96506400-96507600	Enhancers	A549	lung
26	chr10:96506400-96508000	Flanking Active TSS	Liver	Liver
27	chr10:96506800-96508000	Enhancers	Stomach Mucosa	stomach
28	chr10:96507600-96508000	Flanking Active TSS	A549	lung
29	chr10:96508000-96509600	Enhancers	Liver	Liver
30	chr10:96509600-96517400	Weak transcription	Liver	Liver
31	chr10:96510400-96513400	Weak transcription	Fetal Intestine Large	intestine
32	chr10:96511600-96512200	Strong transcription	Fetal Intestine Small	intestine
33	chr10:96511800-96512200	Enhancers	Placenta	Placenta
34	chr10:96512200-96517200	Weak transcription	Fetal Intestine Small	intestine
35	chr10:96517200-96518200	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr10:96517400-96517600	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr10:96517400-96518200	ZNF genes & repeats	Liver	Liver
38	chr10:96517600-96517800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr10:96517600-96518200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
40	chr10:96517600-96518200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr10:96517600-96518200	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr10:96517600-96518200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr10:96517800-96518200	Enhancers	H9 Cell Line	embryonic stem cell
44	chr10:96517800-96518200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr10:96517800-96518200	ZNF genes & repeats	Fetal Stomach	stomach
46	chr10:96518000-96518200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr10:96518200-96518400	Active TSS	ES-I3 Cell Line	embryonic stem cell
48	chr10:96518200-96519600	Weak transcription	Liver	Liver
49	chr10:96519200-96519400	Enhancers	Duodenum Mucosa	Duodenum
50	chr10:96519600-96520800	Weak transcription	Duodenum Mucosa	Duodenum

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