Variant report

Variant	nsv895902
Chromosome Location	chr10:96500106-96619025
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	chr10:96520891-96521011	IMR90	lung:	n/a	chr10:96520959-96520970 chr10:96520961-96520970 chr10:96520960-96520971 chr10:96520961-96520970 chr10:96520961-96520970 chr10:96520961-96520970
2	CEBPB	chr10:96610925-96611288	HepG2	liver:	n/a	chr10:96611099-96611110
3	CEBPB	chr10:96581486-96581791	A549	lung:	n/a	chr10:96581633-96581644
4	CEBPB	chr10:96543674-96543868	A549	lung:	n/a	chr10:96543736-96543747
5	CEBPB	chr10:96610933-96611257	IMR90	lung:	n/a	chr10:96611099-96611110
6	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
7	CEBPB	chr10:96610935-96611206	A549	lung:	n/a	chr10:96611099-96611110
8	CEBPB	chr10:96507808-96507867	A549	lung:	n/a	n/a
9	CEBPB	chr10:96543674-96543836	HepG2	liver:	n/a	chr10:96543736-96543747
10	CEBPB	chr10:96504015-96504089	HepG2	liver:	n/a	chr10:96504062-96504073
11	CEBPB	chr10:96581454-96581783	HepG2	liver:	n/a	chr10:96581633-96581644
12	CEBPB	chr10:96610998-96611149	K562	blood:	n/a	chr10:96611099-96611110
13	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
14	CTCF	chr10:96563100-96563250	MCF-7	breast:	n/a	n/a
15	CTCF	chr10:96505096-96505149	Kidney_OC	kidney:	n/a	n/a
16	CTCF	chr10:96534991-96535093	GM20000	blood:	n/a	n/a
17	CTCF	chr10:96563126-96563151	HepG2	liver:	n/a	n/a
18	CTCF	chr10:96563080-96563230	RPTEC	kidney:	n/a	n/a
19	CTCF	chr10:96530820-96530970	HEK293	kidney:	n/a	n/a
20	CTCF	chr10:96552160-96552310	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr10:96562980-96563130	RPTEC	kidney:	n/a	n/a
22	CTCF	chr10:96618977-96619055	MCF-7	breast:	n/a	n/a
23	CTCF	chr10:96517820-96517970	HepG2	liver:	n/a	n/a
24	CTCF	chr10:96530910-96530967	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr10:96577722-96577829	Kidney_OC	kidney:	n/a	n/a
26	CTCF	chr10:96516926-96516994	Medullo	brain:	n/a	n/a
27	CTCF	chr10:96512231-96512340	MCF-7	breast:	n/a	n/a
28	CTCF	chr10:96596395-96596418	LNCaP	prostate:	n/a	n/a
29	CTCF	chr10:96570817-96570874	GM13976	blood:	n/a	n/a
30	CTCF	chr10:96512257-96512384	MCF-7	breast:	n/a	n/a
31	E2F4	chr10:96511121-96511131	MCF10A-Er-Src	breast:	n/a	n/a
32	FOS	chr10:96545059-96545259	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr10:96545074-96545211	MCF10A-Er-Src	breast:	n/a	n/a
34	FOSL2	chr10:96507580-96508009	A549	lung:	n/a	n/a
35	FOXA1	chr10:96617803-96618108	HepG2	liver:	n/a	n/a
36	FOXA1	chr10:96537732-96538220	HepG2	liver:	n/a	n/a
37	FOXA1	chr10:96573127-96573504	HepG2	liver:	n/a	n/a
38	FOXA1	chr10:96537765-96538162	HepG2	liver:	n/a	n/a
39	FOXA1	chr10:96617847-96618109	HepG2	liver:	n/a	n/a
40	FOXA1	chr10:96617840-96618063	HepG2	liver:	n/a	n/a
41	FOXA1	chr10:96537776-96538168	HepG2	liver:	n/a	n/a
42	FOXA1	chr10:96537827-96538112	HepG2	liver:	n/a	n/a
43	FOXA1	chr10:96617826-96618060	HepG2	liver:	n/a	n/a
44	FOXA1	chr10:96537857-96538090	A549	lung:	n/a	n/a
45	FOXA2	chr10:96589603-96590374	A549	lung:	n/a	n/a
46	FOXA2	chr10:96589749-96590130	A549	lung:	n/a	n/a
47	FOXA2	chr10:96573131-96573566	A549	lung:	n/a	n/a
48	FOXA2	chr10:96617805-96618067	A549	lung:	n/a	n/a
49	FOXA2	chr10:96537753-96538278	A549	lung:	n/a	n/a
50	FOXA2	chr10:96573170-96573685	A549	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:96523347-96523397	HPAEpiC	pulmonary alveolar:	n/a
2	chr10:96523347-96523397	HPAEpiC	pulmonary alveolar:	n/a
3	chr10:96521086-96521136	GM12878	blood:	n/a
4	chr10:96523347-96523397	ovcar-3	ovarian:	n/a
5	chr10:96521152-96521202	NHDF-neo	bronchial:	n/a
6	chr10:96523248-96523298	Caco-2	colon:	n/a
7	chr10:96523347-96523397	HL-60	blood:	n/a
8	chr10:96521152-96521202	Caco-2	colon:	n/a
9	chr10:96523347-96523397	LNCaP	prostate:	n/a
10	chr10:96521086-96521136	ovcar-3	ovarian:	n/a
11	chr10:96523347-96523397	RPTEC	kidney:	n/a
12	chr10:96523347-96523397	PANC-1	pancreas:	n/a
13	chr10:96521086-96521136	HepG2	liver:	n/a
14	chr10:96523248-96523298	NHDF-neo	bronchial:	n/a
15	chr10:96522433-96522483	GM12891	blood:	n/a
16	chr10:96523347-96523397	Jurkat	blood:	n/a
17	chr10:96522433-96522483	HMEC	breast:	n/a
18	chr10:96521152-96521202	GM06990	blood:	n/a
19	chr10:96522433-96522483	AG10803	skin:	n/a
20	chr10:96522433-96522483	GM12892	blood:	n/a
21	chr10:96521086-96521136	HCPEpiC	choroid plexus:	n/a
22	chr10:96523248-96523298	AoSMC	blood vessel:	n/a
23	chr10:96521086-96521136	GM12891	blood:	n/a
24	chr10:96523347-96523397	IMR90	lung:	fetal
25	chr10:96523248-96523298	GM19239	blood:	n/a
26	chr10:96521152-96521202	NH-A	brain:	n/a
27	chr10:96522433-96522483	Jurkat	blood:	n/a
28	chr10:96523248-96523298	LNCaP	prostate:	n/a
29	chr10:96522433-96522483	GM12878	blood:	n/a
30	chr10:96523248-96523298	HCT-116	colon:	n/a
31	chr10:96521152-96521202	HL-60	blood:	n/a
32	chr10:96522433-96522483	IMR90	lung:	fetal
33	chr10:96521086-96521136	GM19239	blood:	n/a
34	chr10:96521086-96521136	HIPEpiC	eye:	n/a
35	chr10:96523248-96523298	NH-A	brain:	n/a
36	chr10:96523347-96523397	SKMC	muscle:	n/a
37	chr10:96523248-96523298	Hepatocyte	liver:	n/a
38	chr10:96522433-96522483	Hela-S3	cervix:	n/a
39	chr10:96522433-96522483	AoSMC	blood vessel:	n/a
40	chr10:96522433-96522483	PrEC	prostate:	n/a
41	chr10:96523248-96523298	SK-N-SH_RA	brain:	n/a
42	chr10:96522433-96522483	NH-A	brain:	n/a
43	chr10:96521152-96521202	HCF	heart:	n/a
44	chr10:96522433-96522483	NB4	blood:	n/a
45	chr10:96521152-96521202	AG09319	gingival:	n/a
46	chr10:96521152-96521202	RPTEC	kidney:	n/a
47	chr10:96522433-96522483	MCF-7	breast:	n/a
48	chr10:96522433-96522483	BE2_C	brain:	n/a
49	chr10:96523248-96523298	HRCEpiC	kidney:	n/a
50	chr10:96521152-96521202	HCM	heart:	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: 6046 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:6046 , 50 per page) page: 1 2 3 4 5 6 7 ... 121

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1926707	chr10:96500106-96500107	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs374821915	chr10:96500112-96500113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs114648095	chr10:96500135-96500136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs77573124	chr10:96500153-96500154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs571685695	chr10:96500162-96500163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs572562727	chr10:96500189-96500190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs541662378	chr10:96500191-96500192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs561417939	chr10:96500220-96500221	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs148711764	chr10:96500262-96500263	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs34117282	chr10:96500263-96500264	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs575246792	chr10:96500282-96500283	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4300333	chr10:96500283-96500284	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs11188068	chr10:96500286-96500287	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs570648111	chr10:96500328-96500329	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539676824	chr10:96500348-96500349	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs116947952	chr10:96500350-96500351	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs12416057	chr10:96500391-96500392	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148797516	chr10:96500449-96500450	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs532626488	chr10:96500464-96500465	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs12412034	chr10:96500473-96500474	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11188069	chr10:96500482-96500483	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs193271277	chr10:96500483-96500484	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs4638245	chr10:96500563-96500564	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs143554878	chr10:96500588-96500589	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs59077396	chr10:96500622-96500623	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548412465	chr10:96500647-96500648	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs568255138	chr10:96500684-96500685	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs78945089	chr10:96500690-96500691	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112870930	chr10:96500694-96500695	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs370066582	chr10:96500784-96500785	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs146313954	chr10:96500787-96500788	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs537878824	chr10:96500811-96500812	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374523274	chr10:96500813-96500814	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs550133186	chr10:96500840-96500841	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs570127915	chr10:96500850-96500851	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs539104911	chr10:96500858-96500859	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs185410103	chr10:96500879-96500880	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs566607370	chr10:96500884-96500885	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs61629168	chr10:96500931-96500932	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs538347990	chr10:96500980-96500981	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs78778185	chr10:96501004-96501005	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
42	rs80339269	chr10:96501069-96501070	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
43	rs540564002	chr10:96501135-96501136	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs78829002	chr10:96501175-96501176	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
45	rs557361233	chr10:96501177-96501178	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs370475871	chr10:96501289-96501290	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs60998888	chr10:96501297-96501298	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs546234251	chr10:96501298-96501299	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs188175620	chr10:96501300-96501301	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs191472404	chr10:96501314-96501315	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:195 , 50 per page) page: 1 2 3 4

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	chr10:96498800-96500200	Weak transcription	Liver	Liver
5	chr10:96499200-96500800	Weak transcription	Fetal Intestine Large	intestine
6	chr10:96500200-96500800	Strong transcription	Liver	Liver
7	chr10:96500800-96501000	ZNF genes & repeats	Liver	Liver
8	chr10:96500800-96501400	ZNF genes & repeats	Fetal Intestine Large	intestine
9	chr10:96500800-96501600	ZNF genes & repeats	Fetal Intestine Small	intestine
10	chr10:96501000-96501400	Strong transcription	Liver	Liver
11	chr10:96501400-96502000	Weak transcription	Liver	Liver
12	chr10:96502000-96503600	Strong transcription	Liver	Liver
13	chr10:96502600-96504200	Strong transcription	Duodenum Mucosa	Duodenum
14	chr10:96503200-96505400	ZNF genes & repeats	Fetal Intestine Small	intestine
15	chr10:96503600-96504400	Genic enhancers	Liver	Liver
16	chr10:96504200-96504600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
17	chr10:96504400-96505000	Weak transcription	Liver	Liver
18	chr10:96504600-96506400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr10:96504800-96505200	ZNF genes & repeats	Stomach Mucosa	stomach
20	chr10:96505000-96506400	Enhancers	Liver	Liver
21	chr10:96505200-96506800	Weak transcription	Stomach Mucosa	stomach
22	chr10:96505400-96511600	Weak transcription	Fetal Intestine Small	intestine
23	chr10:96506400-96507600	Enhancers	A549	lung
24	chr10:96506400-96508000	Flanking Active TSS	Liver	Liver
25	chr10:96506800-96508000	Enhancers	Stomach Mucosa	stomach
26	chr10:96507600-96508000	Flanking Active TSS	A549	lung
27	chr10:96508000-96509600	Enhancers	Liver	Liver
28	chr10:96509600-96517400	Weak transcription	Liver	Liver
29	chr10:96510400-96513400	Weak transcription	Fetal Intestine Large	intestine
30	chr10:96511600-96512200	Strong transcription	Fetal Intestine Small	intestine
31	chr10:96511800-96512200	Enhancers	Placenta	Placenta
32	chr10:96512200-96517200	Weak transcription	Fetal Intestine Small	intestine
33	chr10:96517200-96518200	ZNF genes & repeats	Fetal Intestine Small	intestine
34	chr10:96517400-96517600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr10:96517400-96518200	ZNF genes & repeats	Liver	Liver
36	chr10:96517600-96517800	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr10:96517600-96518200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
38	chr10:96517600-96518200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr10:96517600-96518200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr10:96517600-96518200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr10:96517800-96518200	Enhancers	H9 Cell Line	embryonic stem cell
42	chr10:96517800-96518200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr10:96517800-96518200	ZNF genes & repeats	Fetal Stomach	stomach
44	chr10:96518000-96518200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr10:96518200-96518400	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr10:96518200-96519600	Weak transcription	Liver	Liver
47	chr10:96519200-96519400	Enhancers	Duodenum Mucosa	Duodenum
48	chr10:96519600-96520800	Weak transcription	Duodenum Mucosa	Duodenum
49	chr10:96519600-96521400	Enhancers	Liver	Liver
50	chr10:96520800-96521400	Enhancers	Duodenum Mucosa	Duodenum

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