Variant report

Variant	nsv1032108
Chromosome Location	chr7:126278349-126362592
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:66)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:66 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type	Cell Stage
1	7:126085913-126088095..7:126326554-126329028	GM12878	blood:
2	chr7:126359092..126361580-chr7:126364293..126366745,2	K562	blood:
3	chr7:126309021..126312996-chr7:126337447..126339848,3	K562	blood:
4	chr7:126310480..126313047-chr7:126341094..126342688,2	K562	blood:
5	7:126312146-126318123..7:126890676-126899918	H1-hESC	embryonic stem cell:	embryo
6	7:126085913-126088095..7:126312146-126318123	GM12878	blood:
7	chr7:126307967..126309880-chr7:126404666..126406467,2	K562	blood:
8	7:126085913-126088095..7:126299213-126299975	GM12878	blood:
9	7:126312146-126318123..7:127031401-127034711	GM12878	blood:
10	chr7:126340457..126344219-chr7:126344404..126348305,6	K562	blood:
11	chr7:126340457..126344219-chr7:126344404..126348305,6	K562	blood:
12	chr7:126287875..126289715-chr7:126294505..126296060,2	K562	blood:
13	chr7:126335306..126336854-chr7:126339390..126341574,2	MCF-7	breast:
14	chr7:126312637..126315062-chr7:126328368..126330770,2	K562	blood:
15	chr7:126210096..126212275-chr7:126283884..126286217,2	K562	blood:
16	chr7:126306649..126309044-chr7:126341202..126342980,4	K562	blood:
17	chr7:123389433..123391068-chr7:126340145..126342716,2	K562	blood:
18	chr7:126345298..126347848-chr7:126367419..126370072,2	K562	blood:
19	7:126312146-126318123..7:127009457-127018926	GM12878	blood:
20	chr7:126308425..126309973-chr7:126335993..126338773,2	K562	blood:
21	7:126312146-126318123..7:127233104-127239235	H1-hESC	embryonic stem cell:	embryo
22	chr7:126354910..126357333-chr7:126363262..126365444,2	K562	blood:
23	7:126299213-126299975..7:127009457-127018926	GM12878	blood:
24	chr7:126318252..126320938-chr7:126337348..126339547,3	K562	blood:
25	chr7:126341125..126342675-chr7:126352526..126355240,2	K562	blood:
26	chr7:126318252..126320938-chr7:126337348..126339547,3	K562	blood:
27	7:126312146-126318123..7:127221502-127225864	H1-hESC	embryonic stem cell:	embryo
28	7:126358358-126363704..7:127009457-127018926	GM12878	blood:
29	chr7:126314710..126317465-chr7:126320415..126322546,2	K562	blood:
30	chr7:126338487..126341370-chr7:126368124..126371050,2	K562	blood:
31	chr7:126309021..126312996-chr7:126337447..126339848,3	K562	blood:
32	7:126322588-126322779..7:127225864-127233104	Hela-S3	cervix:
33	chr7:126329105..126333653-chr7:126334255..126342288,12	K562	blood:
34	chr7:126327351..126329606-chr7:126337755..126339407,2	K562	blood:
35	chr7:126329105..126333653-chr7:126334255..126342288,12	K562	blood:
36	chr7:126327351..126329606-chr7:126337755..126339407,2	K562	blood:
37	chr7:126326794..126328339-chr7:126330779..126333157,2	K562	blood:
38	7:126085913-126088095..7:126352172-126357573	GM12878	blood:
39	chr7:126287875..126289715-chr7:126294505..126296060,2	K562	blood:
40	chr7:126296023..126300010-chr7:126305457..126308211,3	K562	blood:
41	7:126303661-126307399..7:127009457-127018926	K562	blood:
42	chr7:126300744..126304591-chr7:126306524..126308654,3	K562	blood:
43	chr7:126359674..126361280-chr7:126368196..126369937,2	K562	blood:
44	chr7:126354910..126358134-chr7:126363262..126365444,3	K562	blood:
45	7:126299213-126299975..7:127221502-127225864	GM12878	blood:
46	chr7:126296023..126300010-chr7:126305457..126308211,3	K562	blood:
47	7:126312146-126318123..7:127225864-127233104	GM12878	blood:
48	chr7:126326794..126328339-chr7:126330779..126333157,2	K562	blood:
49	chr7:126335306..126336854-chr7:126339390..126341574,2	MCF-7	breast:
50	chr7:126313732..126316152-chr7:126338313..126341209,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000004059	chromatin interactions
ENSG00000048405	chromatin interactions
ENSG00000179603	chromatin interactions
ENSG00000179562	chromatin interactions
ENSG00000106328	chromatin interactions

Extended variants
information (count: 2212 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:2212 , 50 per page) page: 1 2 3 4 5 6 7 ... 45

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs139013642	chr7:126289817-126289818	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs559063354	chr7:126289818-126289819	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs193205480	chr7:126289862-126289863	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs370230275	chr7:126289923-126289924	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs185248314	chr7:126289937-126289938	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs553478652	chr7:126289965-126289966	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs1815971	chr7:126289966-126289967	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs1815972	chr7:126289982-126289983	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs554287629	chr7:126289992-126289993	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs145315169	chr7:126290001-126290002	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs115263897	chr7:126290077-126290078	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs2078810	chr7:126290094-126290095	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs532397491	chr7:126290138-126290139	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs571265773	chr7:126290140-126290141	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs541518476	chr7:126290185-126290186	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs147216790	chr7:126290203-126290204	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs530233150	chr7:126290208-126290209	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs548535112	chr7:126290217-126290218	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs140556369	chr7:126290228-126290229	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs1579215	chr7:126290236-126290237	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs117231276	chr7:126290245-126290246	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs571973634	chr7:126290316-126290317	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs530515791	chr7:126290353-126290354	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs550638176	chr7:126290380-126290381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs570689288	chr7:126290400-126290401	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs112444325	chr7:126290421-126290422	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs566340916	chr7:126290447-126290448	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs190097133	chr7:126290456-126290457	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs565405806	chr7:126290468-126290469	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs535965923	chr7:126290484-126290485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs144363589	chr7:126290498-126290499	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs117837304	chr7:126290520-126290521	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs543699492	chr7:126290556-126290557	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs145253811	chr7:126290570-126290571	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs11976897	chr7:126290595-126290596	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs541196351	chr7:126290649-126290650	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs569760863	chr7:126290659-126290660	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs559610241	chr7:126290671-126290672	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs574829979	chr7:126290688-126290689	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs34519333	chr7:126290693-126290694	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs541968952	chr7:126290704-126290705	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs563691937	chr7:126290718-126290719	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs530838271	chr7:126290722-126290723	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs73226921	chr7:126290725-126290726	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs564404495	chr7:126290728-126290729	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs10808224	chr7:126290760-126290761	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs7792700	chr7:126295867-126295868	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs573353911	chr7:126295881-126295882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561131360	chr7:126295890-126295891	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7792723	chr7:126295919-126295920	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:96)

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
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	20808228	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:261 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:126289800-126290800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:126295800-126296600	Enhancers	HUES6 Cell Line	embryonic stem cell
3	chr7:126296000-126296400	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:126296000-126296400	Enhancers	HUES64 Cell Line	embryonic stem cell
5	chr7:126296000-126296800	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr7:126296200-126296600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:126296200-126297000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr7:126296400-126299400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:126296800-126299200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr7:126297000-126298000	Enhancers	GM12878-XiMat	blood
11	chr7:126297000-126301600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:126297600-126299400	Enhancers	Primary B cells from peripheral blood	blood
13	chr7:126297800-126298200	Enhancers	Fetal Kidney	kidney
14	chr7:126298000-126300400	Flanking Active TSS	GM12878-XiMat	blood
15	chr7:126298200-126298600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:126298600-126300200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr7:126299000-126299200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:126299200-126300200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr7:126299200-126300800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr7:126299200-126301800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr7:126299400-126299800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:126299600-126300200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr7:126299800-126300800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:126300200-126300600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr7:126300400-126303400	ZNF genes & repeats	GM12878-XiMat	blood
26	chr7:126300600-126301200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr7:126300800-126301000	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr7:126300800-126301200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:126301600-126302000	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr7:126302600-126303200	Enhancers	HSMMtube	muscle
31	chr7:126307400-126307600	Enhancers	K562	blood
32	chr7:126307600-126307800	Weak transcription	Gastric	stomach
33	chr7:126307600-126307800	Enhancers	Hela-S3	cervix
34	chr7:126307600-126308000	Flanking Active TSS	K562	blood
35	chr7:126307800-126308000	Enhancers	H9 Cell Line	embryonic stem cell
36	chr7:126307800-126308000	Enhancers	Gastric	stomach
37	chr7:126307800-126308000	Flanking Active TSS	Hela-S3	cervix
38	chr7:126308000-126308400	Active TSS	A549	lung
39	chr7:126308000-126308600	Active TSS	HepG2	liver
40	chr7:126308000-126309600	Active TSS	Hela-S3	cervix
41	chr7:126308000-126309600	Active TSS	K562	blood
42	chr7:126308200-126308800	Active TSS	ES-I3 Cell Line	embryonic stem cell
43	chr7:126308200-126308800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr7:126308800-126311600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr7:126309600-126309800	Flanking Active TSS	Hela-S3	cervix
46	chr7:126309600-126309800	Flanking Active TSS	K562	blood
47	chr7:126309800-126314600	Weak transcription	K562	blood
48	chr7:126321200-126321600	Enhancers	H1 Cell Line	embryonic stem cell
49	chr7:126321200-126322000	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr7:126321400-126321800	Enhancers	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links