Variant report

Variant	nsv467436
Chromosome Location	chr10:96805371-96862286
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:53)
CpG islands
(count:122)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:53 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr10:96862061-96862343	A549	lung:	n/a	chr10:96862184-96862195 chr10:96862185-96862196 chr10:96862186-96862195
2	CEBPB	chr10:96856556-96856814	IMR90	lung:	n/a	chr10:96856648-96856659
3	CEBPB	chr10:96862021-96862345	HepG2	liver:	n/a	chr10:96862184-96862195 chr10:96862185-96862196 chr10:96862186-96862195
4	CEBPB	chr10:96862077-96862373	IMR90	lung:	n/a	chr10:96862184-96862195 chr10:96862185-96862196 chr10:96862186-96862195
5	CEBPB	chr10:96856519-96856803	HepG2	liver:	n/a	chr10:96856648-96856659
6	CEBPB	chr10:96856586-96856728	H1-hESC	embryonic stem cell:	n/a	chr10:96856648-96856659
7	CTCF	chr10:96852280-96852430	GM12874	blood:	n/a	n/a
8	CTCF	chr10:96825850-96825936	Kidney_OC	kidney:	n/a	n/a
9	CTCF	chr10:96839040-96839190	GM12869	blood:	n/a	n/a
10	CTCF	chr10:96852280-96852430	A549	lung:	n/a	n/a
11	CTCF	chr10:96852280-96852430	HEK293	kidney:	n/a	n/a
12	CTCF	chr10:96830088-96830150	GM20000	blood:	n/a	n/a
13	CTCF	chr10:96839505-96839590	GM20000	blood:	n/a	n/a
14	CTCF	chr10:96839084-96839189	Lung_OC	lung:	n/a	n/a
15	CTCF	chr10:96852249-96852448	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr10:96852220-96852370	GM12872	blood:	n/a	n/a
17	EP300	chr10:96857525-96858028	HepG2	liver:	n/a	n/a
18	FOXA1	chr10:96857468-96857966	HepG2	liver:	n/a	n/a
19	FOXA1	chr10:96857423-96857939	HepG2	liver:	n/a	n/a
20	FOXA1	chr10:96839288-96839602	HepG2	liver:	n/a	n/a
21	FOXA1	chr10:96857436-96857918	HepG2	liver:	n/a	n/a
22	FOXA1	chr10:96833112-96833422	HepG2	liver:	n/a	n/a
23	FOXA1	chr10:96846183-96846544	HepG2	liver:	n/a	n/a
24	FOXA1	chr10:96846206-96846638	HepG2	liver:	n/a	n/a
25	FOXA1	chr10:96846179-96846602	HepG2	liver:	n/a	n/a
26	FOXA1	chr10:96857499-96857952	HepG2	liver:	n/a	n/a
27	FOXA2	chr10:96839136-96839798	A549	lung:	n/a	n/a
28	FOXA2	chr10:96857548-96857902	HepG2	liver:	n/a	n/a
29	FOXA2	chr10:96839316-96839684	A549	lung:	n/a	n/a
30	HNF4A	chr10:96857504-96857992	HepG2	liver:	n/a	chr10:96857731-96857746
31	HNF4A	chr10:96857550-96857961	HepG2	liver:	n/a	chr10:96857731-96857746
32	HNF4G	chr10:96857454-96858013	HepG2	liver:	n/a	chr10:96857757-96857772 chr10:96857730-96857745
33	HNF4G	chr10:96857582-96857934	HepG2	liver:	n/a	chr10:96857757-96857772 chr10:96857730-96857745
34	KAP1	chr10:96862255-96862675	K562	blood:	n/a	n/a
35	MAFF	chr10:96824315-96824436	HepG2	liver:	n/a	n/a
36	MAFK	chr10:96825672-96825889	HepG2	liver:	n/a	chr10:96825760-96825780
37	MAFK	chr10:96824343-96824399	HepG2	liver:	n/a	n/a
38	POLR2A	chr10:96838801-96838945	ProgFib	skin:	n/a	n/a
39	POLR2A	chr10:96839489-96839634	MCF-7	breast:	n/a	n/a
40	POLR2A	chr10:96811284-96811377	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr10:96832846-96832864	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr10:96838846-96838914	MCF-7	breast:	n/a	n/a
43	POLR2A	chr10:96839644-96839652	MCF-7	breast:	n/a	n/a
44	POLR2A	chr10:96854514-96854625	MCF10A-Er-Src	breast:	n/a	n/a
45	REST	chr10:96844295-96844363	PANC-1	pancreas:	n/a	n/a
46	RXRA	chr10:96857559-96857950	HepG2	liver:	n/a	n/a
47	SP1	chr10:96857491-96858015	HepG2	liver:	n/a	n/a
48	SPI1	chr10:96842817-96843322	GM12878	blood:	n/a	n/a
49	SPI1	chr10:96849244-96849369	K562	blood:	n/a	n/a
50	SRF	chr10:96839042-96839205	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:96830102-96830152	NB4	blood:	n/a
2	chr10:96830102-96830152	Hepatocyte	liver:	n/a
3	chr10:96830102-96830152	ovcar-3	ovarian:	n/a
4	chr10:96830102-96830152	HCT-116	colon:	n/a
5	chr10:96830111-96830161	U87	brain:	n/a
6	chr10:96830111-96830161	HUVEC	blood vessel:	n/a
7	chr10:96830102-96830152	HMEC	breast:	n/a
8	chr10:96830102-96830152	AG10803	skin:	n/a
9	chr10:96830111-96830161	SK-N-SH_RA	brain:	n/a
10	chr10:96830102-96830152	HNPCEpiC	eye:	n/a
11	chr10:96830102-96830152	PANC-1	pancreas:	n/a
12	chr10:96830102-96830152	HUVEC	blood vessel:	n/a
13	chr10:96830111-96830161	GM12892	blood:	n/a
14	chr10:96830102-96830152	AoSMC	blood vessel:	n/a
15	chr10:96830102-96830152	U87	brain:	n/a
16	chr10:96830111-96830161	ovcar-3	ovarian:	n/a
17	chr10:96830111-96830161	HEEpiC	esophagus:	n/a
18	chr10:96830111-96830161	SKMC	muscle:	n/a
19	chr10:96830111-96830161	SK-N-MC	brain:	n/a
20	chr10:96830102-96830152	GM19239	blood:	n/a
21	chr10:96830102-96830152	A549	lung:	n/a
22	chr10:96830111-96830161	PANC-1	pancreas:	n/a
23	chr10:96830111-96830161	T-47D	breast:	n/a
24	chr10:96830111-96830161	ECC-1	luminal epithelium:	n/a
25	chr10:96830102-96830152	CMK	blood:	n/a
26	chr10:96830102-96830152	PrEC	prostate:	n/a
27	chr10:96830102-96830152	HCPEpiC	choroid plexus:	n/a
28	chr10:96830111-96830161	RPTEC	kidney:	n/a
29	chr10:96830111-96830161	NHDF-neo	bronchial:	n/a
30	chr10:96830102-96830152	Jurkat	blood:	n/a
31	chr10:96830111-96830161	HNPCEpiC	eye:	n/a
32	chr10:96830111-96830161	HPAEpiC	pulmonary alveolar:	n/a
33	chr10:96830111-96830161	MCF-7	breast:	n/a
34	chr10:96830111-96830161	Jurkat	blood:	n/a
35	chr10:96830102-96830152	H1-hESC	embryonic stem cell:	embryo
36	chr10:96830111-96830161	HRPEpiC	eye:	n/a
37	chr10:96830111-96830161	NH-A	brain:	n/a
38	chr10:96830102-96830152	GM12892	blood:	n/a
39	chr10:96830111-96830161	SAEC	small airway:	n/a
40	chr10:96830102-96830152	HepG2	liver:	n/a
41	chr10:96830102-96830152	LNCaP	prostate:	n/a
42	chr10:96830102-96830152	SAEC	small airway:	n/a
43	chr10:96830111-96830161	GM12878	blood:	n/a
44	chr10:96830102-96830152	HCM	heart:	n/a
45	chr10:96830111-96830161	HCT-116	colon:	n/a
46	chr10:96830111-96830161	AoSMC	blood vessel:	n/a
47	chr10:96830102-96830152	GM12891	blood:	n/a
48	chr10:96830102-96830152	RPTEC	kidney:	n/a
49	chr10:96830111-96830161	NHBE	bronchial:	n/a
50	chr10:96830111-96830161	MCF10A-Er-Src	breast:	n/a

No data

Variant related genes	Relation type
CYP2C8	TF binding region
CYP2C8	CpG island

Extended variants
information (count: 1396 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:1396 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1891071	chr10:96805371-96805372	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs140593572	chr10:96805383-96805384	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs192140272	chr10:96805389-96805390	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs544611001	chr10:96805430-96805431	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs552220891	chr10:96805477-96805478	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs76106817	chr10:96805478-96805479	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11572156	chr10:96805495-96805496	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs554746739	chr10:96805503-96805504	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376655691	chr10:96805522-96805523	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs61757319	chr10:96805523-96805524	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372960611	chr10:96805533-96805534	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs377382488	chr10:96805547-96805548	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs1141675	chr10:96805571-96805572	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs537326361	chr10:96805573-96805574	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200154618	chr10:96805592-96805593	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182699710	chr10:96805616-96805617	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs539553263	chr10:96805661-96805662	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs370806022	chr10:96805680-96805681	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs140599093	chr10:96805707-96805708	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78637571	chr10:96805708-96805709	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs376166716	chr10:96805739-96805740	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs187313067	chr10:96805747-96805748	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112824936	chr10:96805755-96805756	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs115936140	chr10:96805788-96805789	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561519677	chr10:96805807-96805808	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs574825170	chr10:96805875-96805876	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs138289287	chr10:96805926-96805927	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563360398	chr10:96805936-96805937	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs11572155	chr10:96805986-96805987	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs191770120	chr10:96805992-96805993	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372752501	chr10:96806015-96806016	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs11572154	chr10:96806022-96806023	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs548118677	chr10:96806031-96806032	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs11188154	chr10:96806033-96806034	Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs537364970	chr10:96806114-96806115	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550858038	chr10:96806186-96806187	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs570471021	chr10:96806187-96806188	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs79414302	chr10:96806189-96806190	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs397796390	chr10:96806196-96806197	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs539391556	chr10:96806230-96806231	ZNF genes & repeats Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs552928557	chr10:96806265-96806266	ZNF genes & repeats Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs11572153	chr10:96806286-96806287	ZNF genes & repeats Genic enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs547495580	chr10:96806303-96806304	ZNF genes & repeats Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs535515781	chr10:96806319-96806320	ZNF genes & repeats Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112295502	chr10:96806379-96806380	ZNF genes & repeats Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs574660424	chr10:96806405-96806406	ZNF genes & repeats Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs375929848	chr10:96806410-96806411	ZNF genes & repeats Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543716962	chr10:96806432-96806433	ZNF genes & repeats Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs563595082	chr10:96806451-96806452	ZNF genes & repeats Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs11572152	chr10:96806455-96806456	ZNF genes & repeats Genic enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Acute lymphoblastic leukemia	21339820	CNVD
Amyotrophic lateral sclerosis	20685689	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:96796400-96805400	Strong transcription	Liver	Liver
2	chr10:96804800-96806200	Weak transcription	Aorta	Aorta
3	chr10:96805400-96807800	Genic enhancers	Liver	Liver
4	chr10:96805400-96823600	Weak transcription	Pancreas	Pancrea
5	chr10:96806200-96807000	ZNF genes & repeats	Aorta	Aorta
6	chr10:96807800-96808200	Enhancers	Gastric	stomach
7	chr10:96807800-96809000	Strong transcription	Liver	Liver
8	chr10:96809000-96810800	Genic enhancers	Liver	Liver
9	chr10:96809800-96810000	Enhancers	Gastric	stomach
10	chr10:96809800-96810200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:96810800-96811800	Strong transcription	Liver	Liver
12	chr10:96811800-96812600	Genic enhancers	Liver	Liver
13	chr10:96812600-96813800	Strong transcription	Liver	Liver
14	chr10:96813800-96814600	Genic enhancers	Liver	Liver
15	chr10:96814600-96816200	Strong transcription	Liver	Liver
16	chr10:96816200-96817800	Genic enhancers	Liver	Liver
17	chr10:96817800-96818600	Strong transcription	Liver	Liver
18	chr10:96818600-96823600	Weak transcription	Liver	Liver
19	chr10:96822800-96823400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr10:96823600-96824000	ZNF genes & repeats	Pancreas	Pancrea
21	chr10:96823600-96824200	Genic enhancers	Liver	Liver
22	chr10:96823600-96824600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:96824000-96824400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr10:96824000-96832000	Weak transcription	Pancreas	Pancrea
25	chr10:96824200-96828000	Transcr. at gene 5' and 3'	Liver	Liver
26	chr10:96826800-96827200	Active TSS	Brain Substantia Nigra	brain
27	chr10:96827200-96829200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr10:96828000-96830400	Active TSS	Liver	Liver
29	chr10:96828800-96829200	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr10:96829000-96829600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr10:96830400-96831000	Flanking Active TSS	Liver	Liver
32	chr10:96831000-96831400	Active TSS	Liver	Liver
33	chr10:96831400-96831600	Flanking Active TSS	Liver	Liver
34	chr10:96831600-96831800	Active TSS	Liver	Liver
35	chr10:96831800-96832200	Enhancers	Duodenum Mucosa	Duodenum
36	chr10:96831800-96832400	Flanking Active TSS	Liver	Liver
37	chr10:96832000-96832200	Enhancers	Pancreas	Pancrea
38	chr10:96832200-96832400	Weak transcription	Pancreas	Pancrea
39	chr10:96832400-96833600	Enhancers	Liver	Liver
40	chr10:96846200-96847200	Enhancers	HepG2	liver
41	chr10:96847400-96847600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr10:96847600-96849000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr10:96848800-96849200	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr10:96849000-96849200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr10:96855600-96856000	Enhancers	Gastric	stomach
46	chr10:96855800-96856400	Enhancers	Fetal Intestine Large	intestine
47	chr10:96855800-96856400	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr10:96856000-96856200	Enhancers	Fetal Intestine Small	intestine
49	chr10:96856000-96856800	Enhancers	Stomach Mucosa	stomach
50	chr10:96856000-96858200	Enhancers	HepG2	liver

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