Variant report

Variant	nsv1030541
Chromosome Location	chr7:145883107-146022564
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:145993936..145995557-chr7:145997586..145999222,2	K562	blood:
2	chr7:145950902..145953007-chr7:145958921..145960745,2	K562	blood:
3	chr7:145988038..145989736-chr7:145992431..145994390,2	MCF-7	breast:
4	chr7:145950902..145953007-chr7:145958921..145960745,2	K562	blood:
5	chr7:145988038..145989736-chr7:145992431..145994390,2	MCF-7	breast:
6	chr7:145993957..145995557-chr7:145997071..145999086,2	K562	blood:
7	chr7:145931221..145934684-chr7:145937680..145940356,3	K562	blood:
8	chr7:145931221..145934684-chr7:145937680..145940356,3	K562	blood:
9	chr7:145993936..145995557-chr7:145997586..145999222,2	K562	blood:
10	chr7:145879679..145882297-chr7:145885152..145887234,2	K562	blood:
11	chr7:145993957..145995557-chr7:145997071..145999086,2	K562	blood:
12	chr5:40835299..40835996-chr7:145980649..145981149,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000145592	chromatin interactions

Extended variants
information (count: 3981 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:3981 , 50 per page) page: 1 2 3 4 5 6 7 ... 80

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs183840288	chr7:145883108-145883109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs564204436	chr7:145883137-145883138	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531751719	chr7:145883145-145883146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs549934006	chr7:145883159-145883160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs4612253	chr7:145883187-145883188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs4259336	chr7:145883188-145883189	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs529213075	chr7:145883234-145883235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547711248	chr7:145883251-145883252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs138720240	chr7:145883263-145883264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376680915	chr7:145883272-145883273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs4579442	chr7:145883326-145883327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs557903938	chr7:145883330-145883331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs574561078	chr7:145883346-145883347	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs191296761	chr7:145883377-145883378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs201774007	chr7:145883378-145883379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs1464959	chr7:145883412-145883413	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs573576463	chr7:145883420-145883421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs183106034	chr7:145883456-145883457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs73452078	chr7:145883476-145883477	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs187696283	chr7:145883490-145883491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs575163695	chr7:145883511-145883512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs1464960	chr7:145883553-145883554	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs1464961	chr7:145883566-145883567	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs531746660	chr7:145883586-145883587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs572646420	chr7:145883604-145883605	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs143662512	chr7:145883705-145883706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs73739511	chr7:145883726-145883727	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs530292085	chr7:145883750-145883751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs541714744	chr7:145883886-145883887	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs547725430	chr7:145883898-145883899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191318683	chr7:145883916-145883917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs184674279	chr7:145884002-145884003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs551632522	chr7:145884067-145884068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs79233127	chr7:145884087-145884088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs187946459	chr7:145884143-145884144	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs114079190	chr7:145884147-145884148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs148158500	chr7:145884151-145884152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143084919	chr7:145884193-145884194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs534284096	chr7:145884197-145884198	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs1405116	chr7:145884224-145884225	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs572433289	chr7:145884255-145884256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs12703784	chr7:145884288-145884289	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs112838881	chr7:145884290-145884291	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs146115671	chr7:145884300-145884301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs192007081	chr7:145884323-145884324	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs140146449	chr7:145884337-145884338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs534841660	chr7:145884345-145884346	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs12703785	chr7:145884375-145884376	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs568435033	chr7:145884384-145884385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142444856	chr7:145884420-145884421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
Wilms tumour	21544195	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Glioblastoma multiforme	18628472	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Papillary thyroid carcinoma	21436994	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Hodgkin''s lymphoma	18179710	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Breast cancer	16272173	CNVD
Myxofibrosarcoma	16751306	CNVD
Stuttering	21108403	CNVD
Breast cancer	17603634	CNVD
Urothelial carcinoma	18382360	CNVD
Myelodysplastic syndrome	17634407	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	16461302	CNVD
Neuroblastoma	18923191	CNVD
Breast cancer	17133270	CNVD
Schizophrenia	17646849	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Lung adenocarcinoma	17086460	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pancreatitis	21956041	CNVD
Acute myeloid leukemia	16864856	CNVD
Gastric cancer	16891809	CNVD
Lung cancer	17086460	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Cancer	20164920	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20808228	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Breast cancer	21509527	CNVD
Cancer	20164919	CNVD
Autism	20964600	CNVD
Epilepsy	17646849	CNVD
Mental retardation	19896112	CNVD
Schizophrenia	23813976	CNVD
Autism	20531469	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:253 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145874600-145887400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:145885200-145889200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr7:145887400-145888000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr7:145889400-145890000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr7:145889600-145890000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
6	chr7:145889800-145890200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
7	chr7:145890000-145890800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:145890800-145891000	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr7:145890800-145891600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
10	chr7:145891600-145924800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:145896600-145912200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:145900200-145900600	Enhancers	Brain Angular Gyrus	brain
13	chr7:145900200-145900600	Enhancers	Brain Inferior Temporal Lobe	brain
14	chr7:145905800-145907200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr7:145911200-145925000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr7:145911200-145932000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:145911400-145932000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr7:145911600-145932000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr7:145912000-145924600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:145912200-145914600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:145912400-145912600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr7:145912600-145945200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr7:145914600-145916600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:145915800-145918000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr7:145916600-145917800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:145917800-145919400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:145918000-145918400	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr7:145918400-145925000	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr7:145918800-145942600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr7:145919400-145920400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr7:145920200-145920600	Enhancers	Fetal Muscle Leg	muscle
32	chr7:145920400-145922200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:145921800-145924800	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr7:145922200-145923800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:145922600-145922800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr7:145922800-145943600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr7:145923800-145925000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:145924600-145925600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr7:145924800-145925400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr7:145924800-145925600	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr7:145924800-145925800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr7:145924800-145927400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr7:145925000-145925400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr7:145925000-145925400	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr7:145925000-145925400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr7:145925400-145926200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr7:145925400-145928600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:145925400-145931800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:145925400-145935200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr7:145925600-145926600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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