Variant report

Variant	nsv831182
Chromosome Location	chr7:145399806-145556489
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
1	chr7:145462169..145465094-chr7:145472169..145474075,2	K562	blood:
2	chr7:145476367..145479131-chr7:145497414..145500253,2	K562	blood:
3	chr7:145496261..145498317-chr7:145500912..145502935,2	K562	blood:
4	chr7:145419439..145421064-chr7:145432422..145434585,2	K562	blood:
5	chr7:145521688..145524428-chr7:145525978..145528243,2	K562	blood:
6	chr7:145473213..145476091-chr7:145481669..145483827,2	K562	blood:
7	chr7:145480955..145483168-chr7:145505213..145507964,2	K562	blood:
8	chr7:145479791..145482161-chr7:145495430..145497592,2	K562	blood:
9	chr7:145483440..145485132-chr7:145526047..145528173,2	K562	blood:
10	chr7:145528361..145531819-chr7:145535311..145538302,3	K562	blood:
11	chr7:145483440..145485132-chr7:145526047..145528173,2	K562	blood:
12	chr7:145493230..145496717-chr7:145496905..145498900,3	K562	blood:
13	chr7:145498670..145501761-chr7:145504907..145507918,3	K562	blood:
14	chr7:145479791..145482161-chr7:145495430..145497592,2	K562	blood:
15	chr7:145528361..145531819-chr7:145535311..145538302,3	K562	blood:
16	chr7:145549363..145550991-chr7:145552735..145554413,2	K562	blood:
17	chr7:145511159..145513705-chr7:145543606..145545928,2	K562	blood:
18	chr7:145490921..145492885-chr7:145501378..145504321,2	K562	blood:
19	chr7:145500763..145502459-chr7:145504004..145505820,2	K562	blood:
20	chr7:145480673..145485123-chr7:145486120..145492126,9	K562	blood:
21	chr7:145526235..145528580-chr7:145532723..145534447,2	K562	blood:
22	chr7:145502354..145504603-chr7:145510015..145512590,2	K562	blood:
23	chr7:145521688..145524428-chr7:145525978..145528243,2	K562	blood:
24	chr7:145526235..145528580-chr7:145532723..145534447,2	K562	blood:
25	chr7:145468884..145471463-chr7:145486033..145488649,2	K562	blood:
26	chr7:145511159..145513705-chr7:145543606..145545928,2	K562	blood:
27	chr7:145468884..145471463-chr7:145486033..145488649,2	K562	blood:
28	chr7:145488061..145490636-chr7:145491307..145495492,3	K562	blood:
29	chr7:145493230..145496717-chr7:145496905..145498900,3	K562	blood:
30	chr7:145380746..145383692-chr7:145402946..145405642,2	K562	blood:
31	chr7:145480904..145484102-chr7:145498283..145500839,4	K562	blood:
32	chr7:145490921..145492885-chr7:145501378..145504321,2	K562	blood:
33	chr7:145496380..145498149-chr7:145531231..145534208,2	K562	blood:
34	chr7:145393605..145397108-chr7:145398952..145403129,4	K562	blood:
35	chr7:145496380..145498149-chr7:145531231..145534208,2	K562	blood:
36	chr7:145419439..145421064-chr7:145432422..145434585,2	K562	blood:
37	chr7:145480904..145484102-chr7:145498283..145500839,4	K562	blood:
38	chr7:145449251..145450121-chr7:145786995..145787798,2	K562	blood:
39	chr7:145481226..145483746-chr7:145496053..145497822,2	K562	blood:
40	chr7:145502448..145505439-chr7:145519907..145522697,2	K562	blood:
41	chr7:145498670..145501761-chr7:145504907..145507918,3	K562	blood:
42	chr7:145549363..145550991-chr7:145552735..145554413,2	K562	blood:
43	chr7:145500763..145502459-chr7:145504004..145505820,2	K562	blood:
44	chr7:145499268..145500796-chr7:145500851..145503015,2	K562	blood:
45	chr7:145502354..145504603-chr7:145510015..145512590,2	K562	blood:
46	chr7:145462169..145465094-chr7:145472169..145474075,2	K562	blood:
47	chr7:145426356..145428524-chr7:145429528..145431932,2	K562	blood:
48	chr7:145434915..145437728-chr7:145445272..145447906,2	K562	blood:
49	chr7:145544188..145547713-chr7:145548640..145551255,3	K562	blood:
50	chr7:145481226..145483746-chr7:145496053..145497822,2	K562	blood:

No data

Extended variants
information (count: 3578 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:3578 , 50 per page) page: 1 2 3 4 5 6 7 ... 72

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548893843	chr7:145410219-145410220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs185536536	chr7:145410226-145410227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147244998	chr7:145410301-145410302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs552666255	chr7:145410313-145410314	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs570958997	chr7:145410326-145410327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189058001	chr7:145410333-145410334	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs66716113	chr7:145410335-145410336	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs568474542	chr7:145410377-145410378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs140743560	chr7:145410410-145410411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs116560947	chr7:145410445-145410446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs527808621	chr7:145410446-145410447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs540020561	chr7:145410452-145410453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561931119	chr7:145410475-145410476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571900385	chr7:145410477-145410478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs200171340	chr7:145410501-145410502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs577724782	chr7:145410549-145410550	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs529130776	chr7:145410616-145410617	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs557404349	chr7:145410636-145410637	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs575747465	chr7:145410656-145410657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs143302460	chr7:145410659-145410660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs550460789	chr7:145410664-145410665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs112901353	chr7:145410670-145410671	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs561506665	chr7:145410677-145410678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs34931759	chr7:145410683-145410684	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs74384188	chr7:145410685-145410686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs147528072	chr7:145410705-145410706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs35094032	chr7:145410713-145410714	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs527842738	chr7:145410718-145410719	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs552823728	chr7:145410732-145410733	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs564535226	chr7:145410741-145410742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs148592197	chr7:145410814-145410815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs528093967	chr7:145410871-145410872	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs568358695	chr7:145410923-145410924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529328914	chr7:145410933-145410934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs142900469	chr7:145410993-145410994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565659704	chr7:145411012-145411013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs539212480	chr7:145411159-145411160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557514952	chr7:145411187-145411188	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs569861541	chr7:145411241-145411242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs536746214	chr7:145411280-145411281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555481014	chr7:145411333-145411334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573519311	chr7:145411336-145411337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79243165	chr7:145411338-145411339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs554475285	chr7:145411360-145411361	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs13239005	chr7:145411361-145411362	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs151099993	chr7:145411370-145411371	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs373430956	chr7:145411375-145411376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs700271	chr7:145411376-145411377	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs531978511	chr7:145411379-145411380	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543541427	chr7:145411388-145411389	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Schizophrenia	23813976	CNVD
Schizophrenia	20838587	CNVD
Schizophrenia	20718829	CNVD
Neuropsychiatric disorder	21827697	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145410200-145410400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:145410400-145415200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:145413200-145413400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr7:145413400-145413600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr7:145413400-145413600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr7:145413400-145413600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:145413600-145415600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr7:145415000-145415400	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr7:145415200-145415800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:145415200-145416000	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr7:145415400-145416000	Enhancers	H1 Cell Line	embryonic stem cell
12	chr7:145415400-145416000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr7:145415400-145416000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:145415400-145416000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr7:145415400-145416000	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr7:145415600-145416000	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr7:145415600-145416000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:145415600-145416000	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:145415800-145416200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr7:145416000-145416400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr7:145416000-145417400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:145416000-145417400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr7:145417400-145417600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr7:145417400-145418000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr7:145418000-145419400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr7:145419400-145419600	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr7:145426400-145426800	Active TSS	Fetal Heart	heart
28	chr7:145426600-145427400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr7:145426600-145427400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:145427400-145432000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr7:145429000-145429200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr7:145429000-145430400	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr7:145429000-145430600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr7:145429000-145430600	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr7:145429200-145432200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr7:145429400-145430000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr7:145429400-145430000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr7:145429400-145430400	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr7:145429600-145430200	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr7:145432200-145432600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr7:145432400-145432600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:145432400-145432600	Enhancers	Fetal Lung	lung
43	chr7:145446800-145447000	Enhancers	K562	blood
44	chr7:145448800-145449400	Active TSS	Fetal Heart	heart
45	chr7:145449600-145450000	Active TSS	H9 Cell Line	embryonic stem cell
46	chr7:145450200-145450400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr7:145450200-145450400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr7:145450200-145450400	Enhancers	Gastric	stomach
49	chr7:145475600-145476400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:145480800-145481200	Enhancers	K562	blood

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