Variant report

Variant	nsv1047505
Chromosome Location	chr10:96468200-96593083
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	chr10:96507808-96507867	A549	lung:	n/a	n/a
2	CEBPB	chr10:96504015-96504089	HepG2	liver:	n/a	chr10:96504062-96504073
3	CEBPB	chr10:96543674-96543868	A549	lung:	n/a	chr10:96543736-96543747
4	CEBPB	chr10:96485737-96485940	A549	lung:	n/a	n/a
5	CEBPB	chr10:96487899-96488178	A549	lung:	n/a	chr10:96488055-96488066
6	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
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	CEBPB	chr10:96581486-96581791	A549	lung:	n/a	chr10:96581633-96581644
9	CEBPB	chr10:96485885-96485913	K562	blood:	n/a	n/a
10	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
11	CEBPB	chr10:96543674-96543836	HepG2	liver:	n/a	chr10:96543736-96543747
12	CEBPB	chr10:96581454-96581783	HepG2	liver:	n/a	chr10:96581633-96581644
13	CEBPB	chr10:96487954-96488117	H1-hESC	embryonic stem cell:	n/a	chr10:96488055-96488066
14	CEBPB	chr10:96487896-96488218	IMR90	lung:	n/a	chr10:96488055-96488066
15	CEBPB	chr10:96485747-96485947	IMR90	lung:	n/a	n/a
16	CEBPB	chr10:96487903-96488237	HepG2	liver:	n/a	chr10:96488055-96488066
17	CTCF	chr10:96516926-96516994	Medullo	brain:	n/a	n/a
18	CTCF	chr10:96512257-96512384	MCF-7	breast:	n/a	n/a
19	CTCF	chr10:96534991-96535093	GM20000	blood:	n/a	n/a
20	CTCF	chr10:96562980-96563130	RPTEC	kidney:	n/a	n/a
21	CTCF	chr10:96577722-96577829	Kidney_OC	kidney:	n/a	n/a
22	CTCF	chr10:96530820-96530970	HEK293	kidney:	n/a	n/a
23	CTCF	chr10:96530910-96530967	H1-hESC	embryonic stem cell:	n/a	n/a
24	CTCF	chr10:96552160-96552310	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr10:96563126-96563151	HepG2	liver:	n/a	n/a
26	CTCF	chr10:96505096-96505149	Kidney_OC	kidney:	n/a	n/a
27	CTCF	chr10:96517820-96517970	HepG2	liver:	n/a	n/a
28	CTCF	chr10:96512231-96512340	MCF-7	breast:	n/a	n/a
29	CTCF	chr10:96570817-96570874	GM13976	blood:	n/a	n/a
30	CTCF	chr10:96563100-96563250	MCF-7	breast:	n/a	n/a
31	CTCF	chr10:96563080-96563230	RPTEC	kidney:	n/a	n/a
32	E2F4	chr10:96511121-96511131	MCF10A-Er-Src	breast:	n/a	n/a
33	FOS	chr10:96545059-96545259	MCF10A-Er-Src	breast:	n/a	n/a
34	FOS	chr10:96545074-96545211	MCF10A-Er-Src	breast:	n/a	n/a
35	FOS	chr10:96485608-96485959	MCF10A-Er-Src	breast:	n/a	n/a
36	FOS	chr10:96485593-96486022	MCF10A-Er-Src	breast:	n/a	n/a
37	FOS	chr10:96485600-96485967	MCF10A-Er-Src	breast:	n/a	n/a
38	FOS	chr10:96485613-96486005	MCF10A-Er-Src	breast:	n/a	n/a
39	FOSL2	chr10:96507580-96508009	A549	lung:	n/a	n/a
40	FOSL2	chr10:96485580-96486030	A549	lung:	n/a	n/a
41	FOXA1	chr10:96573127-96573504	HepG2	liver:	n/a	n/a
42	FOXA1	chr10:96537765-96538162	HepG2	liver:	n/a	n/a
43	FOXA1	chr10:96537827-96538112	HepG2	liver:	n/a	n/a
44	FOXA1	chr10:96537732-96538220	HepG2	liver:	n/a	n/a
45	FOXA1	chr10:96537857-96538090	A549	lung:	n/a	n/a
46	FOXA1	chr10:96537776-96538168	HepG2	liver:	n/a	n/a
47	FOXA2	chr10:96537753-96538278	A549	lung:	n/a	n/a
48	FOXA2	chr10:96573131-96573566	A549	lung:	n/a	n/a
49	FOXA2	chr10:96589749-96590130	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	chr10:96522433-96522483	GM19239	blood:	n/a
2	chr10:96521152-96521202	HCPEpiC	choroid plexus:	n/a
3	chr10:96521086-96521136	AG09319	gingival:	n/a
4	chr10:96521086-96521136	U87	brain:	n/a
5	chr10:96523347-96523397	SK-N-MC	brain:	n/a
6	chr10:96523248-96523298	NHBE	bronchial:	n/a
7	chr10:96522433-96522483	NT2-D1	testis:	n/a
8	chr10:96521152-96521202	HCT-116	colon:	n/a
9	chr10:96523248-96523298	NH-A	brain:	n/a
10	chr10:96522433-96522483	SK-N-SH	brain:	n/a
11	chr10:96523248-96523298	SKMC	muscle:	n/a
12	chr10:96521086-96521136	HAEpiC	amniotic membrane:	n/a
13	chr10:96521152-96521202	ProgFib	skin:	n/a
14	chr10:96522433-96522483	SK-N-SH_RA	brain:	n/a
15	chr10:96523248-96523298	K562	blood:	n/a
16	chr10:96521086-96521136	ProgFib	skin:	n/a
17	chr10:96521152-96521202	HIPEpiC	eye:	n/a
18	chr10:96523248-96523298	HCPEpiC	choroid plexus:	n/a
19	chr10:96523248-96523298	GM12892	blood:	n/a
20	chr10:96522433-96522483	ProgFib	skin:	n/a
21	chr10:96521152-96521202	MCF-7	breast:	n/a
22	chr10:96523347-96523397	SK-N-SH	brain:	n/a
23	chr10:96523248-96523298	PrEC	prostate:	n/a
24	chr10:96523248-96523298	LNCaP	prostate:	n/a
25	chr10:96521086-96521136	Hela-S3	cervix:	n/a
26	chr10:96521152-96521202	GM12892	blood:	n/a
27	chr10:96523347-96523397	A549	lung:	n/a
28	chr10:96522433-96522483	HL-60	blood:	n/a
29	chr10:96523347-96523397	SK-N-SH_RA	brain:	n/a
30	chr10:96523248-96523298	GM06990	blood:	n/a
31	chr10:96521152-96521202	NH-A	brain:	n/a
32	chr10:96523347-96523397	K562	blood:	n/a
33	chr10:96522433-96522483	HAEpiC	amniotic membrane:	n/a
34	chr10:96521086-96521136	AG04450	lung:	fetal
35	chr10:96522433-96522483	MCF-7	breast:	n/a
36	chr10:96521086-96521136	HL-60	blood:	n/a
37	chr10:96523248-96523298	SAEC	small airway:	n/a
38	chr10:96523248-96523298	HPAEpiC	pulmonary alveolar:	n/a
39	chr10:96523248-96523298	GM12891	blood:	n/a
40	chr10:96522433-96522483	HNPCEpiC	eye:	n/a
41	chr10:96521086-96521136	GM06990	blood:	n/a
42	chr10:96523248-96523298	NB4	blood:	n/a
43	chr10:96522433-96522483	HMEC	breast:	n/a
44	chr10:96523347-96523397	GM19239	blood:	n/a
45	chr10:96523347-96523397	LNCaP	prostate:	n/a
46	chr10:96521152-96521202	Caco-2	colon:	n/a
47	chr10:96521152-96521202	ECC-1	luminal epithelium:	n/a
48	chr10:96522433-96522483	GM12891	blood:	n/a
49	chr10:96521086-96521136	AG10803	skin:	n/a
50	chr10:96521086-96521136	GM12892	blood:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:96479612..96481874-chr10:96483604..96486212,2	MCF-7	breast:
2	chr10:96479612..96481874-chr10:96483604..96486212,2	MCF-7	breast:

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

Extended variants
information (count: 5912 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:5912 , 50 per page) page: 1 2 3 4 5 6 7 ... 119

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370725510	chr10:96468211-96468212	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs369136639	chr10:96468234-96468235	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149373147	chr10:96468265-96468266	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs568217968	chr10:96468294-96468295	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs537259820	chr10:96468308-96468309	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs578103854	chr10:96468318-96468319	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs191455944	chr10:96468334-96468335	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544064801	chr10:96468342-96468343	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs550467392	chr10:96468367-96468368	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574755501	chr10:96468384-96468385	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs76267984	chr10:96468524-96468525	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs538727079	chr10:96468541-96468542	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182437358	chr10:96468553-96468554	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75431801	chr10:96468558-96468559	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs558564203	chr10:96468626-96468627	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs572098415	chr10:96468628-96468629	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144714232	chr10:96468634-96468635	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs148540173	chr10:96468661-96468662	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116785012	chr10:96468671-96468672	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541893501	chr10:96468706-96468707	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs563706634	chr10:96468716-96468717	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs142591869	chr10:96468738-96468739	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs74967207	chr10:96468755-96468756	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
24	rs559435858	chr10:96468765-96468766	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs528095566	chr10:96468766-96468767	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs547833602	chr10:96468777-96468778	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs11591641	chr10:96468808-96468809	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs186286786	chr10:96468844-96468845	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560806209	chr10:96468870-96468871	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570540102	chr10:96468875-96468876	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs560940814	chr10:96468897-96468898	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11188059	chr10:96468899-96468900	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
33	rs116545507	chr10:96468905-96468906	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs147618071	chr10:96468909-96468910	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs565791131	chr10:96468961-96468962	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534709365	chr10:96468964-96468965	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs554634564	chr10:96468995-96468996	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575100037	chr10:96469060-96469061	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572428877	chr10:96469078-96469079	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs537327125	chr10:96469090-96469091	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35593080	chr10:96469139-96469140	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557570619	chr10:96469191-96469192	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs140602400	chr10:96469192-96469193	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368693744	chr10:96469203-96469204	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs571195971	chr10:96469204-96469205	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374578837	chr10:96469205-96469206	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535355443	chr10:96469210-96469211	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs144949089	chr10:96469280-96469281	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs532547540	chr10:96469289-96469290	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs191012987	chr10:96469302-96469303	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17431168	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oligozoospermia	20877625	CNVD

Chromatin state (count:179 , 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	chr10:96450000-96471400	Weak transcription	Fetal Intestine Large	intestine
3	chr10:96462800-96469800	Strong transcription	Liver	Liver
4	chr10:96467400-96469800	Weak transcription	Fetal Intestine Small	intestine
5	chr10:96468000-96477400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr10:96469800-96470000	ZNF genes & repeats	Fetal Intestine Small	intestine
7	chr10:96469800-96471000	Genic enhancers	Liver	Liver
8	chr10:96470000-96471200	Weak transcription	Fetal Intestine Small	intestine
9	chr10:96471000-96472600	Strong transcription	Liver	Liver
10	chr10:96471200-96472000	Strong transcription	Fetal Intestine Small	intestine
11	chr10:96471400-96471600	ZNF genes & repeats	Fetal Intestine Large	intestine
12	chr10:96472000-96474600	Weak transcription	Fetal Intestine Small	intestine
13	chr10:96472600-96476800	Weak transcription	Liver	Liver
14	chr10:96476800-96477400	Strong transcription	Liver	Liver
15	chr10:96477400-96478600	ZNF genes & repeats	Liver	Liver
16	chr10:96477400-96478600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
17	chr10:96477800-96489400	Weak transcription	Fetal Intestine Large	intestine
18	chr10:96478600-96479200	Weak transcription	Fetal Intestine Small	intestine
19	chr10:96478600-96484000	Weak transcription	Duodenum Mucosa	Duodenum
20	chr10:96478600-96490800	Strong transcription	Liver	Liver
21	chr10:96479200-96480400	Strong transcription	Fetal Intestine Small	intestine
22	chr10:96480000-96482800	Weak transcription	Gastric	stomach
23	chr10:96480400-96487000	Weak transcription	Fetal Intestine Small	intestine
24	chr10:96484000-96484800	Strong transcription	Duodenum Mucosa	Duodenum
25	chr10:96484800-96502600	Weak transcription	Duodenum Mucosa	Duodenum
26	chr10:96487000-96487400	ZNF genes & repeats	Fetal Intestine Small	intestine
27	chr10:96487400-96500800	Weak transcription	Fetal Intestine Small	intestine
28	chr10:96490800-96492400	Weak transcription	Liver	Liver
29	chr10:96492400-96493800	Enhancers	Liver	Liver
30	chr10:96493800-96494400	Weak transcription	Liver	Liver
31	chr10:96494400-96494800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr10:96494400-96494800	Enhancers	HMEC	breast
33	chr10:96494400-96495400	Genic enhancers	Liver	Liver
34	chr10:96495400-96497000	Weak transcription	Liver	Liver
35	chr10:96497000-96498800	Enhancers	Liver	Liver
36	chr10:96498800-96500200	Weak transcription	Liver	Liver
37	chr10:96499200-96500800	Weak transcription	Fetal Intestine Large	intestine
38	chr10:96500200-96500800	Strong transcription	Liver	Liver
39	chr10:96500800-96501000	ZNF genes & repeats	Liver	Liver
40	chr10:96500800-96501400	ZNF genes & repeats	Fetal Intestine Large	intestine
41	chr10:96500800-96501600	ZNF genes & repeats	Fetal Intestine Small	intestine
42	chr10:96501000-96501400	Strong transcription	Liver	Liver
43	chr10:96501400-96502000	Weak transcription	Liver	Liver
44	chr10:96502000-96503600	Strong transcription	Liver	Liver
45	chr10:96502600-96504200	Strong transcription	Duodenum Mucosa	Duodenum
46	chr10:96503200-96505400	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr10:96503600-96504400	Genic enhancers	Liver	Liver
48	chr10:96504200-96504600	ZNF genes & repeats	Duodenum Mucosa	Duodenum
49	chr10:96504400-96505000	Weak transcription	Liver	Liver
50	chr10:96504600-96506400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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