Variant report

Variant	nsv889386
Chromosome Location	chr7:145845418-145935428
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:145879679..145882297-chr7:145885152..145887234,2	K562	blood:
2	chr7:145931221..145934684-chr7:145937680..145940356,3	K562	blood:
3	chr7:145872793..145874958-chr7:145879839..145881542,2	K562	blood:
4	chr7:145879679..145882297-chr7:145885152..145887234,2	K562	blood:
5	chr7:145870161..145872926-chr7:145874663..145877386,2	K562	blood:
6	chr7:145870161..145872926-chr7:145874663..145877386,2	K562	blood:
7	chr7:145872793..145874958-chr7:145879839..145881542,2	K562	blood:

No data

Extended variants
information (count: 2504 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:2504 , 50 per page) page: 1 2 3 4 5 6 7 ... 51

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs959411	chr7:145845418-145845419	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs572628977	chr7:145845430-145845431	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546062302	chr7:145845464-145845465	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs371302619	chr7:145845500-145845501	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554748871	chr7:145845510-145845511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564642118	chr7:145845543-145845544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs576123024	chr7:145845558-145845559	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200235273	chr7:145845611-145845612	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs549959201	chr7:145845631-145845632	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141627458	chr7:145845645-145845646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs571306097	chr7:145845661-145845662	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150438692	chr7:145845679-145845680	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543702061	chr7:145845707-145845708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138141510	chr7:145845731-145845732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs547702836	chr7:145845746-145845747	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547319629	chr7:145845759-145845760	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565191607	chr7:145845775-145845776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs28564084	chr7:145845776-145845777	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs531750235	chr7:145845791-145845792	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533195572	chr7:145845802-145845803	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551284059	chr7:145845845-145845846	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369925811	chr7:145845903-145845904	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537103830	chr7:145845917-145845918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369043695	chr7:145845925-145845926	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs549013442	chr7:145845929-145845930	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs567241240	chr7:145845942-145845943	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs192177119	chr7:145845952-145845953	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs34038575	chr7:145845962-145845963	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs149574379	chr7:145845969-145845970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs540068359	chr7:145846037-145846038	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554238837	chr7:145846041-145846042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs386718967	chr7:145846109-145846110	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376303691	chr7:145846110-145846111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11768250	chr7:145846111-145846112	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs375340740	chr7:145846116-145846117	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543485245	chr7:145846125-145846126	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs13308656	chr7:145846134-145846135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs182815789	chr7:145846138-145846139	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs573734825	chr7:145846178-145846179	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541060433	chr7:145846250-145846251	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs200738690	chr7:145846278-145846279	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34569647	chr7:145846284-145846285	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs559647134	chr7:145846288-145846289	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533032163	chr7:145846296-145846297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs545199130	chr7:145846307-145846308	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs12703773	chr7:145846351-145846352	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs188433119	chr7:145846363-145846364	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs549125754	chr7:145846402-145846403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552427040	chr7:145846592-145846593	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs138994040	chr7:145846603-145846604	Enhancers	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:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145843600-145846800	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr7:145843600-145846800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr7:145843800-145847200	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr7:145844000-145845800	Enhancers	iPS-20b Cell Line	embryonic stem cell
5	chr7:145844600-145846600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr7:145844800-145845800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:145844800-145845800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:145845400-145845600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr7:145845800-145846600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr7:145845800-145847400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr7:145846600-145847000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:145854400-145854800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr7:145873600-145874400	Enhancers	H1 Cell Line	embryonic stem cell
14	chr7:145873600-145874400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:145873600-145874400	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr7:145873600-145874600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr7:145873600-145874600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr7:145873800-145874400	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:145873800-145874600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr7:145873800-145874800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr7:145873800-145874800	Enhancers	Fetal Kidney	kidney
22	chr7:145874000-145874400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr7:145874000-145874400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:145874000-145874400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:145874000-145874600	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr7:145874200-145874600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr7:145874600-145887400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:145874800-145879800	Weak transcription	Fetal Kidney	kidney
29	chr7:145879800-145880000	Enhancers	Fetal Kidney	kidney
30	chr7:145885200-145889200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:145887400-145888000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
32	chr7:145889400-145890000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
33	chr7:145889600-145890000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
34	chr7:145889800-145890200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
35	chr7:145890000-145890800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr7:145890800-145891000	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr7:145890800-145891600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
38	chr7:145891600-145924800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr7:145896600-145912200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:145900200-145900600	Enhancers	Brain Angular Gyrus	brain
41	chr7:145900200-145900600	Enhancers	Brain Inferior Temporal Lobe	brain
42	chr7:145905800-145907200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr7:145911200-145925000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr7:145911200-145932000	Weak transcription	H9 Cell Line	embryonic stem cell
45	chr7:145911400-145932000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr7:145911600-145932000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:145912000-145924600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr7:145912200-145914600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:145912400-145912600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr7:145912600-145945200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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