Variant report

Variant	nsv895901
Chromosome Location	chr10:96486504-96565650
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	chr10:96487896-96488218	IMR90	lung:	n/a	chr10:96488055-96488066
2	CEBPB	chr10:96543674-96543868	A549	lung:	n/a	chr10:96543736-96543747
3	CEBPB	chr10:96504015-96504089	HepG2	liver:	n/a	chr10:96504062-96504073
4	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
5	CEBPB	chr10:96487954-96488117	H1-hESC	embryonic stem cell:	n/a	chr10:96488055-96488066
6	CEBPB	chr10:96487903-96488237	HepG2	liver:	n/a	chr10:96488055-96488066
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	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
9	CEBPB	chr10:96487899-96488178	A549	lung:	n/a	chr10:96488055-96488066
10	CEBPB	chr10:96507808-96507867	A549	lung:	n/a	n/a
11	CEBPB	chr10:96543674-96543836	HepG2	liver:	n/a	chr10:96543736-96543747
12	CTCF	chr10:96552160-96552310	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr10:96505096-96505149	Kidney_OC	kidney:	n/a	n/a
14	CTCF	chr10:96563100-96563250	MCF-7	breast:	n/a	n/a
15	CTCF	chr10:96512257-96512384	MCF-7	breast:	n/a	n/a
16	CTCF	chr10:96517820-96517970	HepG2	liver:	n/a	n/a
17	CTCF	chr10:96512231-96512340	MCF-7	breast:	n/a	n/a
18	CTCF	chr10:96530910-96530967	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr10:96563126-96563151	HepG2	liver:	n/a	n/a
20	CTCF	chr10:96562980-96563130	RPTEC	kidney:	n/a	n/a
21	CTCF	chr10:96530820-96530970	HEK293	kidney:	n/a	n/a
22	CTCF	chr10:96516926-96516994	Medullo	brain:	n/a	n/a
23	CTCF	chr10:96563080-96563230	RPTEC	kidney:	n/a	n/a
24	CTCF	chr10:96534991-96535093	GM20000	blood:	n/a	n/a
25	E2F4	chr10:96511121-96511131	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr10:96545074-96545211	MCF10A-Er-Src	breast:	n/a	n/a
27	FOS	chr10:96545059-96545259	MCF10A-Er-Src	breast:	n/a	n/a
28	FOSL2	chr10:96507580-96508009	A549	lung:	n/a	n/a
29	FOXA1	chr10:96537765-96538162	HepG2	liver:	n/a	n/a
30	FOXA1	chr10:96537827-96538112	HepG2	liver:	n/a	n/a
31	FOXA1	chr10:96537857-96538090	A549	lung:	n/a	n/a
32	FOXA1	chr10:96537732-96538220	HepG2	liver:	n/a	n/a
33	FOXA1	chr10:96537776-96538168	HepG2	liver:	n/a	n/a
34	FOXA2	chr10:96537890-96538150	HepG2	liver:	n/a	n/a
35	FOXA2	chr10:96537753-96538278	A549	lung:	n/a	n/a
36	GATA3	chr10:96546749-96547154	SK-N-SH	brain:	n/a	n/a
37	MAFK	chr10:96541762-96541922	HepG2	liver:	n/a	n/a
38	NFYB	chr10:96523978-96524177	GM12878	blood:	n/a	n/a
39	NFYB	chr10:96561723-96561949	GM12878	blood:	n/a	n/a
40	NFYB	chr10:96561668-96562035	K562	blood:	n/a	n/a
41	NFYB	chr10:96533507-96533878	K562	blood:	n/a	n/a
42	NFYB	chr10:96523864-96524196	K562	blood:	n/a	n/a
43	NR3C1	chr10:96507806-96508040	A549	lung:	n/a	chr10:96507892-96507906
44	NR3C1	chr10:96507795-96507991	A549	lung:	n/a	chr10:96507892-96507906
45	NR3C1	chr10:96537773-96538112	A549	lung:	n/a	n/a
46	NR3C1	chr10:96507640-96508067	A549	lung:	n/a	chr10:96507892-96507906
47	POLR2A	chr10:96546589-96546708	MCF10A-Er-Src	breast:	n/a	n/a
48	POLR2A	chr10:96523762-96523895	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr10:96517925-96517936	MCF-7	breast:	n/a	n/a
50	POLR2A	chr10:96512941-96513075	MCF10A-Er-Src	breast:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:96522433-96522483	AG04449	skin:	fetal
2	chr10:96521086-96521136	PrEC	prostate:	n/a
3	chr10:96521086-96521136	GM12892	blood:	n/a
4	chr10:96522433-96522483	NHBE	bronchial:	n/a
5	chr10:96522433-96522483	SK-N-SH_RA	brain:	n/a
6	chr10:96522433-96522483	SK-N-MC	brain:	n/a
7	chr10:96521086-96521136	HCF	heart:	n/a
8	chr10:96523248-96523298	T-47D	breast:	n/a
9	chr10:96523248-96523298	MCF-7	breast:	n/a
10	chr10:96522433-96522483	AoSMC	blood vessel:	n/a
11	chr10:96521152-96521202	SKMC	muscle:	n/a
12	chr10:96521152-96521202	AoSMC	blood vessel:	n/a
13	chr10:96522433-96522483	NHDF-neo	bronchial:	n/a
14	chr10:96523347-96523397	HEK293	kidney:	embryo
15	chr10:96521152-96521202	BJ	skin:	n/a
16	chr10:96523248-96523298	HRPEpiC	eye:	n/a
17	chr10:96522433-96522483	HIPEpiC	eye:	n/a
18	chr10:96521086-96521136	AG10803	skin:	n/a
19	chr10:96523248-96523298	PANC-1	pancreas:	n/a
20	chr10:96521152-96521202	HPAEpiC	pulmonary alveolar:	n/a
21	chr10:96521086-96521136	HEEpiC	esophagus:	n/a
22	chr10:96522433-96522483	PFSK-1	brain:	n/a
23	chr10:96523347-96523397	Hepatocyte	liver:	n/a
24	chr10:96522433-96522483	T-47D	breast:	n/a
25	chr10:96522433-96522483	HMEC	breast:	n/a
26	chr10:96521152-96521202	GM12891	blood:	n/a
27	chr10:96523248-96523298	HCPEpiC	choroid plexus:	n/a
28	chr10:96523347-96523397	HEEpiC	esophagus:	n/a
29	chr10:96523347-96523397	MCF10A-Er-Src	breast:	n/a
30	chr10:96521152-96521202	HEEpiC	esophagus:	n/a
31	chr10:96523347-96523397	HCM	heart:	n/a
32	chr10:96522433-96522483	CMK	blood:	n/a
33	chr10:96522433-96522483	HNPCEpiC	eye:	n/a
34	chr10:96523347-96523397	PFSK-1	brain:	n/a
35	chr10:96523248-96523298	Jurkat	blood:	n/a
36	chr10:96523248-96523298	HCM	heart:	n/a
37	chr10:96522433-96522483	ProgFib	skin:	n/a
38	chr10:96521152-96521202	AG09309	skin:	n/a
39	chr10:96523248-96523298	SAEC	small airway:	n/a
40	chr10:96521086-96521136	HRE	kidney:	n/a
41	chr10:96522433-96522483	LNCaP	prostate:	n/a
42	chr10:96521152-96521202	GM12892	blood:	n/a
43	chr10:96523347-96523397	K562	blood:	n/a
44	chr10:96523248-96523298	Hepatocyte	liver:	n/a
45	chr10:96523248-96523298	SKMC	muscle:	n/a
46	chr10:96521152-96521202	NB4	blood:	n/a
47	chr10:96523347-96523397	NHDF-neo	bronchial:	n/a
48	chr10:96521086-96521136	IMR90	lung:	fetal
49	chr10:96523248-96523298	BJ	skin:	n/a
50	chr10:96522433-96522483	Hepatocyte	liver:	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: 3787 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:3787 , 50 per page) page: 1 2 3 4 5 6 7 ... 76

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7914753	chr10:96486504-96486505	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561180264	chr10:96486571-96486572	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs117496532	chr10:96486622-96486623	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs79793875	chr10:96486771-96486772	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569918536	chr10:96486772-96486773	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs75103531	chr10:96486782-96486783	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552341072	chr10:96486872-96486873	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs192421633	chr10:96486874-96486875	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183714925	chr10:96486910-96486911	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7900850	chr10:96486999-96487000	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs574710455	chr10:96487010-96487011	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs536917389	chr10:96487019-96487020	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs116171901	chr10:96487020-96487021	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs560954589	chr10:96487080-96487081	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs547892102	chr10:96487115-96487116	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs192733479	chr10:96487124-96487125	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs547556372	chr10:96487134-96487135	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs545783561	chr10:96487136-96487137	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs558966952	chr10:96487161-96487162	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs562631632	chr10:96487174-96487175	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs572590836	chr10:96487190-96487191	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs541553962	chr10:96487249-96487250	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs370371218	chr10:96487287-96487288	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs35835168	chr10:96487307-96487308	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
25	rs530333954	chr10:96487327-96487328	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs543719068	chr10:96487362-96487363	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs564010265	chr10:96487369-96487370	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs201693884	chr10:96487371-96487372	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs532737978	chr10:96487380-96487381	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs77723790	chr10:96487389-96487390	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs184715293	chr10:96487407-96487408	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs566109993	chr10:96487412-96487413	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7919273	chr10:96487451-96487452	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs189996966	chr10:96487455-96487456	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs568226601	chr10:96487480-96487481	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs182179963	chr10:96487515-96487516	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs186057275	chr10:96487520-96487521	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7904581	chr10:96487531-96487532	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs539386462	chr10:96487578-96487579	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189577127	chr10:96487588-96487589	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs572529648	chr10:96487658-96487659	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs368964934	chr10:96487670-96487671	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541492380	chr10:96487684-96487685	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs555055172	chr10:96487691-96487692	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs574886403	chr10:96487725-96487726	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140996050	chr10:96487763-96487764	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs563767832	chr10:96487795-96487796	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs78941090	chr10:96487812-96487813	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs77024310	chr10:96487826-96487827	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs559754650	chr10:96487929-96487930	Strong transcription 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:137 , 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	chr10:96477800-96489400	Weak transcription	Fetal Intestine Large	intestine
3	chr10:96478600-96490800	Strong transcription	Liver	Liver
4	chr10:96480400-96487000	Weak transcription	Fetal Intestine Small	intestine
5	chr10:96484800-96502600	Weak transcription	Duodenum Mucosa	Duodenum
6	chr10:96487000-96487400	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr10:96487400-96500800	Weak transcription	Fetal Intestine Small	intestine
8	chr10:96490800-96492400	Weak transcription	Liver	Liver
9	chr10:96492400-96493800	Enhancers	Liver	Liver
10	chr10:96493800-96494400	Weak transcription	Liver	Liver
11	chr10:96494400-96494800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr10:96494400-96494800	Enhancers	HMEC	breast
13	chr10:96494400-96495400	Genic enhancers	Liver	Liver
14	chr10:96495400-96497000	Weak transcription	Liver	Liver
15	chr10:96497000-96498800	Enhancers	Liver	Liver
16	chr10:96498800-96500200	Weak transcription	Liver	Liver
17	chr10:96499200-96500800	Weak transcription	Fetal Intestine Large	intestine
18	chr10:96500200-96500800	Strong transcription	Liver	Liver
19	chr10:96500800-96501000	ZNF genes & repeats	Liver	Liver
20	chr10:96500800-96501400	ZNF genes & repeats	Fetal Intestine Large	intestine
21	chr10:96500800-96501600	ZNF genes & repeats	Fetal Intestine Small	intestine
22	chr10:96501000-96501400	Strong transcription	Liver	Liver
23	chr10:96501400-96502000	Weak transcription	Liver	Liver
24	chr10:96502000-96503600	Strong transcription	Liver	Liver
25	chr10:96502600-96504200	Strong transcription	Duodenum Mucosa	Duodenum
26	chr10:96503200-96505400	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr10:96503600-96504400	Genic enhancers	Liver	Liver
28	chr10:96504200-96504600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
29	chr10:96504400-96505000	Weak transcription	Liver	Liver
30	chr10:96504600-96506400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr10:96504800-96505200	ZNF genes & repeats	Stomach Mucosa	stomach
32	chr10:96505000-96506400	Enhancers	Liver	Liver
33	chr10:96505200-96506800	Weak transcription	Stomach Mucosa	stomach
34	chr10:96505400-96511600	Weak transcription	Fetal Intestine Small	intestine
35	chr10:96506400-96507600	Enhancers	A549	lung
36	chr10:96506400-96508000	Flanking Active TSS	Liver	Liver
37	chr10:96506800-96508000	Enhancers	Stomach Mucosa	stomach
38	chr10:96507600-96508000	Flanking Active TSS	A549	lung
39	chr10:96508000-96509600	Enhancers	Liver	Liver
40	chr10:96509600-96517400	Weak transcription	Liver	Liver
41	chr10:96510400-96513400	Weak transcription	Fetal Intestine Large	intestine
42	chr10:96511600-96512200	Strong transcription	Fetal Intestine Small	intestine
43	chr10:96511800-96512200	Enhancers	Placenta	Placenta
44	chr10:96512200-96517200	Weak transcription	Fetal Intestine Small	intestine
45	chr10:96517200-96518200	ZNF genes & repeats	Fetal Intestine Small	intestine
46	chr10:96517400-96517600	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr10:96517400-96518200	ZNF genes & repeats	Liver	Liver
48	chr10:96517600-96517800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr10:96517600-96518200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
50	chr10:96517600-96518200	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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