Variant report

Variant	nsv889162
Chromosome Location	chr7:125537419-125652488
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	ATF2	chr7:125606321-125606646	GM12878	blood:	n/a	n/a
2	CBX3	chr7:125574542-125575099	HCT-116	colon:	n/a	n/a
3	CBX3	chr7:125574517-125575153	HCT-116	colon:	n/a	n/a
4	CCNT2	chr7:125569775-125569946	K562	blood:	n/a	n/a
5	CEBPB	chr7:125603329-125603585	HepG2	liver:	n/a	chr7:125603411-125603422
6	CEBPB	chr7:125553556-125553759	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr7:125603406-125603606	IMR90	lung:	n/a	chr7:125603411-125603422
8	CEBPB	chr7:125608121-125608318	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr7:125641111-125641392	HepG2	liver:	n/a	chr7:125641225-125641236
10	CEBPB	chr7:125577494-125577627	HepG2	liver:	n/a	chr7:125577588-125577599 chr7:125577589-125577598 chr7:125577589-125577598 chr7:125577587-125577600 chr7:125577587-125577600 chr7:125577589-125577598 chr7:125577587-125577598 chr7:125577589-125577598
11	CEBPB	chr7:125628748-125628924	A549	lung:	n/a	chr7:125628800-125628811 chr7:125628802-125628811
12	CEBPB	chr7:125586265-125586333	K562	blood:	n/a	chr7:125586287-125586298 chr7:125586287-125586296
13	CEBPB	chr7:125603367-125603565	K562	blood:	n/a	chr7:125603411-125603422
14	CEBPB	chr7:125628636-125628960	HepG2	liver:	n/a	chr7:125628800-125628811 chr7:125628802-125628811
15	CEBPB	chr7:125539818-125539959	H1-hESC	embryonic stem cell:	n/a	n/a
16	CEBPB	chr7:125578930-125579240	HepG2	liver:	n/a	chr7:125579076-125579087
17	CEBPB	chr7:125578941-125579239	IMR90	lung:	n/a	chr7:125579076-125579087
18	CEBPB	chr7:125579018-125579149	K562	blood:	n/a	chr7:125579076-125579087
19	CEBPB	chr7:125586220-125586477	A549	lung:	n/a	chr7:125586287-125586298 chr7:125586287-125586296
20	CEBPB	chr7:125578989-125579221	A549	lung:	n/a	chr7:125579076-125579087
21	CEBPB	chr7:125588846-125589425	HepG2	liver:	n/a	chr7:125588880-125588891 chr7:125589282-125589293
22	CTCF	chr7:125539760-125539910	HEK293	kidney:	n/a	n/a
23	CTCF	chr7:125542323-125542428	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr7:125624885-125625207	H1-hESC	embryonic stem cell:	n/a	n/a
25	CTCF	chr7:125558180-125558330	GM12866	blood:	n/a	n/a
26	CTCF	chr7:125624900-125625050	WERI-Rb-1	eye:	n/a	n/a
27	CTCF	chr7:125539720-125539870	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr7:125624943-125625110	H1-hESC	embryonic stem cell:	n/a	n/a
29	CTCF	chr7:125624885-125625253	H1-hESC	embryonic stem cell:	n/a	n/a
30	CTCF	chr7:125619292-125619621	GM12878	blood:	n/a	n/a
31	CTCF	chr7:125619420-125619570	BE2_C	brain:	n/a	n/a
32	CTCF	chr7:125561418-125561441	GM13976	blood:	n/a	n/a
33	CTCF	chr7:125609665-125609731	GM12878	blood:	n/a	chr7:125609702-125609723 chr7:125609705-125609713 chr7:125609700-125609718
34	CTCF	chr7:125631281-125631344	GM10248	blood:	n/a	n/a
35	CTCF	chr7:125551930-125551935	GM13977	blood:	n/a	n/a
36	CTCF	chr7:125539840-125539990	HCT-116	colon:	n/a	n/a
37	CTCF	chr7:125539820-125539970	GM12872	blood:	n/a	n/a
38	CTCF	chr7:125638988-125639158	GM12878	blood:	n/a	n/a
39	CTCF	chr7:125545120-125545270	K562	blood:	n/a	n/a
40	CTCF	chr7:125574820-125574970	HUVEC	blood vessel:	n/a	n/a
41	CTCF	chr7:125539880-125540030	BE2_C	brain:	n/a	n/a
42	CTCF	chr7:125609507-125609855	GM12878	blood:	n/a	chr7:125609702-125609723 chr7:125609705-125609713 chr7:125609700-125609718
43	CTCF	chr7:125624920-125625070	SK-N-SH_RA	brain:	n/a	n/a
44	CTCF	chr7:125539700-125539850	BE2_C	brain:	n/a	n/a
45	CTCF	chr7:125539660-125539810	NB4	blood:	n/a	n/a
46	CTCF	chr7:125539980-125540130	MCF-7	breast:	n/a	n/a
47	CTCF	chr7:125619300-125619450	BE2_C	brain:	n/a	n/a
48	CTCF	chr7:125539660-125539810	BE2_C	brain:	n/a	n/a
49	E2F4	chr7:125568248-125568499	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F4	chr7:125584308-125584590	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:125606198..125608530-chr7:125608776..125611774,2	K562	blood:
2	chr7:125620692..125622990-chr7:125623881..125626292,2	K562	blood:
3	chr7:125531353..125533872-chr7:125536141..125538542,2	K562	blood:
4	chr7:125574020..125576631-chr7:125579427..125582036,2	K562	blood:
5	chr7:125606198..125608530-chr7:125608776..125611774,2	K562	blood:
6	chr7:125574020..125576631-chr7:125579427..125582036,2	K562	blood:
7	chr7:125598344..125601168-chr7:125601374..125603496,2	K562	blood:
8	chr7:125598344..125601168-chr7:125601374..125603496,2	K562	blood:
9	chr7:125620692..125622990-chr7:125623881..125626292,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ARF5-6	chr7:125564266-125564441	XLOC_006234
2	lnc-ARF5-6	chr7:125573828-125573886	XLOC_006234
3	lnc-ARF5-6	chr7:125557925-125558172	XLOC_006234
4	lnc-ARF5-6	chr7:125563748-125564004	XLOC_006234
5	lnc-ARF5-6	chr7:125560111-125560207	XLOC_006234

Variant related genes	Relation type
ENSG00000197462	TF binding region

Extended variants
information (count: 4444 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:4444 , 50 per page) page: 1 2 3 4 5 6 7 ... 89

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs567123706	chr7:125545614-125545615	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs574122649	chr7:125545636-125545637	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs144451963	chr7:125545645-125545646	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539908563	chr7:125545689-125545690	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs546585086	chr7:125545692-125545693	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs139066740	chr7:125545746-125545747	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184366063	chr7:125545749-125545750	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs34257551	chr7:125545753-125545754	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189118902	chr7:125545796-125545797	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs569023373	chr7:125545800-125545801	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs539299789	chr7:125545807-125545808	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs78552627	chr7:125545809-125545810	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs572758772	chr7:125545812-125545813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs562585734	chr7:125545847-125545848	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs540149873	chr7:125545848-125545849	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368035697	chr7:125545902-125545903	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555323506	chr7:125545978-125545979	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs181148547	chr7:125545994-125545995	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs573988120	chr7:125546100-125546101	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs375148270	chr7:125546104-125546105	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs116029797	chr7:125546119-125546120	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs562889023	chr7:125546127-125546128	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533472046	chr7:125546147-125546148	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531622268	chr7:125546236-125546237	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs545578883	chr7:125546251-125546252	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs186465079	chr7:125546284-125546285	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs12535196	chr7:125546315-125546316	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs74580469	chr7:125546344-125546345	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189373171	chr7:125546347-125546348	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs536659596	chr7:125546366-125546367	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs528921144	chr7:125546468-125546469	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs550645853	chr7:125546510-125546511	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs4731274	chr7:125546511-125546512	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs10253599	chr7:125546525-125546526	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs551123320	chr7:125546526-125546527	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs181018940	chr7:125546545-125546546	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs75168929	chr7:125546608-125546609	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555284354	chr7:125546627-125546628	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs75121195	chr7:125546637-125546638	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs146505795	chr7:125546639-125546640	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs558747309	chr7:125546673-125546674	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74461665	chr7:125546690-125546691	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs371279762	chr7:125546719-125546720	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs113236701	chr7:125546787-125546788	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs143424971	chr7:125546828-125546829	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572711788	chr7:125546888-125546889	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs560121820	chr7:125546898-125546899	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543333040	chr7:125546902-125546903	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs79907744	chr7:125546908-125546909	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs75929748	chr7:125546910-125546911	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Epilepsy	21635232	CNVD
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Autism	20858243	CNVD
Autism	20808228	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:299 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:125545600-125549200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
2	chr7:125545600-125557800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:125546200-125546800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr7:125548600-125549200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
5	chr7:125549200-125549400	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr7:125549400-125553400	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr7:125550400-125551000	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr7:125550600-125552000	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr7:125550600-125553800	Active TSS	H9 Cell Line	embryonic stem cell
10	chr7:125551000-125555800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:125552000-125553400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:125553400-125553600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr7:125553400-125554000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
14	chr7:125553600-125555600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr7:125553800-125558000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr7:125554000-125555000	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr7:125555000-125555200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr7:125555000-125556000	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:125555200-125555600	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr7:125555600-125556000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr7:125555600-125556000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
22	chr7:125555600-125556600	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr7:125555600-125557000	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr7:125555600-125557000	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr7:125555800-125557000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr7:125556000-125556400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr7:125556000-125556600	Genic enhancers	HUES6 Cell Line	embryonic stem cell
28	chr7:125556000-125557200	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr7:125556400-125557000	Enhancers	HUES48 Cell Line	embryonic stem cell
30	chr7:125556600-125557000	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
31	chr7:125557000-125557800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr7:125557000-125558000	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr7:125557000-125558000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr7:125557000-125558000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr7:125557800-125558200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
36	chr7:125558000-125558200	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
37	chr7:125558000-125558800	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr7:125558000-125559600	Active TSS	H9 Cell Line	embryonic stem cell
39	chr7:125558000-125560600	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
40	chr7:125558400-125558800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:125558800-125562200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr7:125558800-125564000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:125559200-125559600	Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr7:125559600-125561200	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr7:125559600-125564000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr7:125560000-125560200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr7:125560200-125564200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr7:125560600-125561000	Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr7:125561000-125563200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
50	chr7:125561200-125561800	Active TSS	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

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