Variant report

Variant	esv1833643
Chromosome Location	chr7:119484927-119557536
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:294)
CpG islands
(count:0)
Chromatin interactive
region (count:56)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:294 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr7:119535268-119535593	K562	blood:	n/a	n/a
2	ARID3A	chr7:119556591-119556623	K562	blood:	n/a	n/a
3	ARID3A	chr7:119549177-119549427	K562	blood:	n/a	n/a
4	ARID3A	chr7:119485246-119485330	K562	blood:	n/a	n/a
5	ARID3A	chr7:119533898-119533920	K562	blood:	n/a	n/a
6	ARID3A	chr7:119545914-119546769	K562	blood:	n/a	n/a
7	ARID3A	chr7:119533532-119533639	K562	blood:	n/a	n/a
8	ARID3A	chr7:119547213-119547605	K562	blood:	n/a	n/a
9	ARID3A	chr7:119544471-119544634	K562	blood:	n/a	n/a
10	ATF1	chr7:119535148-119535329	K562	blood:	n/a	n/a
11	ATF1	chr7:119549049-119549443	K562	blood:	n/a	n/a
12	ATF1	chr7:119547275-119547621	K562	blood:	n/a	n/a
13	ATF3	chr7:119547664-119547998	K562	blood:	n/a	n/a
14	BHLHE40	chr7:119549136-119549393	K562	blood:	n/a	n/a
15	CBX3	chr7:119524841-119525448	K562	blood:	n/a	n/a
16	CBX3	chr7:119509760-119510161	K562	blood:	n/a	n/a
17	CBX3	chr7:119547161-119547689	K562	blood:	n/a	n/a
18	CCNT2	chr7:119548335-119548457	K562	blood:	n/a	n/a
19	CCNT2	chr7:119515033-119515101	K562	blood:	n/a	n/a
20	CCNT2	chr7:119546099-119546321	K562	blood:	n/a	n/a
21	CCNT2	chr7:119488928-119489128	K562	blood:	n/a	n/a
22	CCNT2	chr7:119547305-119548071	K562	blood:	n/a	n/a
23	CEBPB	chr7:119508476-119508990	K562	blood:	n/a	chr7:119508623-119508634
24	CEBPB	chr7:119545729-119545765	H1-hESC	embryonic stem cell:	n/a	chr7:119545753-119545764
25	CEBPB	chr7:119533228-119533516	K562	blood:	n/a	n/a
26	CEBPB	chr7:119545581-119545906	IMR90	lung:	n/a	chr7:119545753-119545764
27	CEBPB	chr7:119547198-119547934	K562	blood:	n/a	n/a
28	CEBPB	chr7:119545600-119545919	HepG2	liver:	n/a	chr7:119545753-119545764 chr7:119545904-119545916
29	CEBPB	chr7:119534099-119534417	K562	blood:	n/a	chr7:119534273-119534286
30	CEBPB	chr7:119508582-119508989	Hela-S3	cervix:	n/a	chr7:119508623-119508634
31	CEBPB	chr7:119547380-119548003	K562	blood:	n/a	n/a
32	CEBPB	chr7:119508477-119508878	HepG2	liver:	n/a	chr7:119508623-119508634
33	CEBPB	chr7:119549178-119549264	K562	blood:	n/a	n/a
34	CEBPB	chr7:119545491-119545956	K562	blood:	n/a	chr7:119545753-119545764 chr7:119545904-119545916
35	CEBPB	chr7:119545531-119545943	K562	blood:	n/a	chr7:119545753-119545764 chr7:119545904-119545916
36	CEBPD	chr7:119547149-119547690	K562	blood:	n/a	n/a
37	CHD2	chr7:119524511-119524664	K562	blood:	n/a	n/a
38	CHD2	chr7:119525023-119525204	K562	blood:	n/a	n/a
39	CHD2	chr7:119485372-119485459	K562	blood:	n/a	n/a
40	CHD2	chr7:119523639-119523895	K562	blood:	n/a	n/a
41	CHD2	chr7:119547112-119547714	K562	blood:	n/a	n/a
42	CHD2	chr7:119547315-119547603	HepG2	liver:	n/a	n/a
43	CHD2	chr7:119525804-119526038	K562	blood:	n/a	n/a
44	CTCF	chr7:119547960-119548110	HepG2	liver:	n/a	n/a
45	CTCF	chr7:119504000-119504150	HMF	breast:	n/a	n/a
46	CTCF	chr7:119536966-119537043	GM13976	blood:	n/a	n/a
47	CTCF	chr7:119503960-119504110	AoAF	blood vessel:	n/a	n/a
48	CTCF	chr7:119503980-119504130	HMF	breast:	n/a	n/a
49	CTCF	chr7:119504040-119504190	AG04450	lung:	n/a	n/a
50	CTCF	chr7:119546881-119546967	K562	blood:	n/a	n/a

No data

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:119533151..119535556-chr7:119574432..119576390,2	K562	blood:
2	chr7:119487540..119490536-chr7:119492292..119494646,2	K562	blood:
3	chr7:119535257..119536915-chr7:119542608..119545152,2	K562	blood:
4	chr7:119505448..119507945-chr7:119512222..119515197,2	K562	blood:
5	chr7:119531424..119534015-chr7:119541541..119544692,3	K562	blood:
6	chr7:119532435..119536395-chr7:119545462..119547437,5	K562	blood:
7	chr7:119529652..119531216-chr7:119540900..119542894,2	K562	blood:
8	chr7:119513975..119516683-chr7:119520911..119522869,2	K562	blood:
9	chr7:119527652..119529791-chr7:119534255..119537137,2	K562	blood:
10	chr7:119510525..119513313-chr7:119545335..119546843,2	K562	blood:
11	chr7:119504952..119507751-chr7:119544610..119547346,2	K562	blood:
12	chr7:119510969..119512779-chr7:119515094..119517064,2	K562	blood:
13	chr7:119544617..119547371-chr7:119688407..119692790,3	K562	blood:
14	chr7:119551448..119554657-chr7:119557824..119560982,4	K562	blood:
15	chr7:119528303..119529981-chr7:119532634..119534210,2	K562	blood:
16	chr7:119501656..119503413-chr7:119506676..119508249,2	K562	blood:
17	chr7:119518704..119521067-chr7:119542364..119544620,2	K562	blood:
18	chr7:119545908..119547715-chr7:119552175..119553901,2	K562	blood:
19	chr7:119516671..119518877-chr7:119519641..119522411,2	K562	blood:
20	chr7:119527012..119529074-chr7:119543165..119546062,2	K562	blood:
21	chr7:119511194..119513890-chr7:119518810..119520879,2	K562	blood:
22	chr7:119516671..119518877-chr7:119519641..119522411,2	K562	blood:
23	chr7:119510969..119512779-chr7:119515094..119517064,2	K562	blood:
24	chr7:119544225..119546800-chr7:119608946..119611395,2	K562	blood:
25	chr7:119518704..119521067-chr7:119542364..119544620,2	K562	blood:
26	chr7:119481189..119482862-chr7:119504225..119505878,2	K562	blood:
27	chr7:119551448..119555226-chr7:119556760..119560982,4	K562	blood:
28	chr7:119544182..119546756-chr7:119562620..119564769,3	K562	blood:
29	chr7:119527652..119529791-chr7:119534255..119537137,2	K562	blood:
30	chr7:119531336..119533343-chr7:119587590..119589885,2	K562	blood:
31	chr7:119477848..119480157-chr7:119533640..119535341,2	K562	blood:
32	chr7:119482560..119485334-chr7:119486434..119488140,2	K562	blood:
33	chr7:119504952..119507751-chr7:119544610..119547346,2	K562	blood:
34	chr7:119551448..119555226-chr7:119556760..119560982,4	K562	blood:
35	chr20:45894483..45895044-chr7:119551574..119552374,2	MCF-7	breast:
36	chr7:119489803..119491919-chr7:119544731..119547433,2	K562	blood:
37	chr7:119510525..119513313-chr7:119545335..119546843,2	K562	blood:
38	chr7:119527012..119529074-chr7:119543165..119546062,2	K562	blood:
39	chr7:119547567..119549067-chr7:119606535..119609324,2	K562	blood:
40	chr7:119544286..119546318-chr7:119560639..119562241,2	K562	blood:
41	chr7:119535257..119536915-chr7:119542608..119545152,2	K562	blood:
42	chr7:119548507..119550960-chr7:119636367..119638999,2	K562	blood:
43	chr7:119482560..119485334-chr7:119486434..119488140,2	K562	blood:
44	chr7:119505448..119507945-chr7:119512222..119515197,2	K562	blood:
45	chr7:119541414..119544010-chr7:119583938..119586887,3	K562	blood:
46	chr7:119541414..119544010-chr7:119583938..119585593,2	K562	blood:
47	chr7:119529652..119531216-chr7:119540900..119542894,2	K562	blood:
48	chr7:119531424..119534015-chr7:119541541..119544692,3	K562	blood:
49	chr7:119501656..119503413-chr7:119506676..119508249,2	K562	blood:
50	chr7:119513975..119516683-chr7:119520911..119522869,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSPAN12-4	chr7:119547347-119547429	XLOC_006580
2	lnc-TSPAN12-4	chr7:119547347-119547429	XLOC_006580

No data

Variant related genes	Relation type
ENSG00000225546	TF binding region
ENSG00000225546	chromatin interactions
HOXC8	miRNA target sites

Extended variants
information (count: 2367 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:2367 , 50 per page) page: 1 2 3 4 5 6 7 ... 48

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538587118	chr7:119484934-119484935	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112614879	chr7:119484948-119484949	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs146713056	chr7:119484995-119484996	Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192321483	chr7:119485018-119485019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs377158320	chr7:119485044-119485045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs115061732	chr7:119485051-119485052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs555058237	chr7:119485091-119485092	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574793545	chr7:119485113-119485114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs78722341	chr7:119485126-119485127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs554250318	chr7:119485131-119485132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs112353457	chr7:119485138-119485139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546546261	chr7:119485216-119485217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs575821497	chr7:119485230-119485231	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564921445	chr7:119485238-119485239	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563146552	chr7:119485256-119485257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs60631223	chr7:119485262-119485263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs576592090	chr7:119485307-119485308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs73489138	chr7:119485327-119485328	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs543168482	chr7:119485352-119485353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs34326390	chr7:119485386-119485387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs142737940	chr7:119485467-119485468	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs546663681	chr7:119485493-119485494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs151006829	chr7:119485509-119485510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs531955083	chr7:119485534-119485535	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140463704	chr7:119485549-119485550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs568774049	chr7:119485611-119485612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs538050891	chr7:119485705-119485706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548132609	chr7:119485734-119485735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs568237932	chr7:119485782-119485783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs534068224	chr7:119485783-119485784	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs150396674	chr7:119485786-119485787	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs374748031	chr7:119485792-119485793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376969793	chr7:119485827-119485828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577330852	chr7:119485836-119485837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376156761	chr7:119485941-119485942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs535940375	chr7:119485970-119485971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539808553	chr7:119485972-119485973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs372090851	chr7:119486023-119486024	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs556904306	chr7:119486041-119486042	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs563168213	chr7:119486046-119486047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs576609391	chr7:119486051-119486052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542504412	chr7:119486087-119486088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs562183535	chr7:119486137-119486138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs572583425	chr7:119486145-119486146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs539963134	chr7:119486194-119486195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs559784468	chr7:119486218-119486219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs531991572	chr7:119486229-119486230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184857366	chr7:119486248-119486249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs374767106	chr7:119486263-119486264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs60763485	chr7:119486277-119486278	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:84)

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
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	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
small cell lung cancer	20016488	CNVD
Glioblastoma multiforme	22286061	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18194544	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
early-passage human iPS cells	21368824	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:119481600-119485000	Strong transcription	K562	blood
2	chr7:119485000-119501200	Weak transcription	K562	blood
3	chr7:119501200-119501600	ZNF genes & repeats	K562	blood
4	chr7:119501600-119508800	Weak transcription	K562	blood
5	chr7:119508800-119511200	Strong transcription	K562	blood
6	chr7:119511200-119515600	Weak transcription	K562	blood
7	chr7:119515600-119516000	Strong transcription	K562	blood
8	chr7:119516000-119517000	Weak transcription	K562	blood
9	chr7:119517000-119518000	Strong transcription	K562	blood
10	chr7:119518000-119521400	Weak transcription	K562	blood
11	chr7:119521400-119521800	Enhancers	K562	blood
12	chr7:119521800-119524800	Weak transcription	K562	blood
13	chr7:119523400-119523800	Enhancers	H9 Cell Line	embryonic stem cell
14	chr7:119523400-119523800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr7:119525800-119526200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr7:119526000-119526400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:119526000-119526400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr7:119527800-119529400	ZNF genes & repeats	K562	blood
19	chr7:119529400-119537600	Weak transcription	K562	blood
20	chr7:119535000-119535400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr7:119536400-119537400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr7:119537400-119539800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:119537600-119538000	Strong transcription	K562	blood
24	chr7:119538000-119538600	ZNF genes & repeats	K562	blood
25	chr7:119538600-119540000	Weak transcription	K562	blood
26	chr7:119539800-119541800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr7:119539800-119541800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:119540000-119540400	Strong transcription	K562	blood
29	chr7:119540400-119543800	Genic enhancers	K562	blood
30	chr7:119541000-119541400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr7:119541000-119541400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr7:119541000-119541600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:119541000-119541800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:119543800-119544400	Transcr. at gene 5' and 3'	K562	blood
35	chr7:119544400-119547800	Active TSS	K562	blood
36	chr7:119547400-119548200	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr7:119547800-119548200	Enhancers	H1 Cell Line	embryonic stem cell
38	chr7:119547800-119548600	Flanking Active TSS	K562	blood
39	chr7:119548600-119549200	Enhancers	K562	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links