Variant report

Variant	nsv608928
Chromosome Location	chr7:145928429-145952946
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:145931221..145934684-chr7:145937680..145940356,3	K562	blood:
2	chr7:145950902..145953007-chr7:145958921..145960745,2	K562	blood:
3	chr7:145931221..145934684-chr7:145937680..145940356,3	K562	blood:

Extended variants
information (count: 1128 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1128 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1526079	chr7:145928429-145928430	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs567313733	chr7:145928439-145928440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs149481038	chr7:145928457-145928458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs143980107	chr7:145928460-145928461	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577536907	chr7:145928474-145928475	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs184903572	chr7:145928479-145928480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs540123908	chr7:145928482-145928483	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558459541	chr7:145928492-145928493	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs189762044	chr7:145928523-145928524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537608308	chr7:145928556-145928557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs551948252	chr7:145928583-145928584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs1405119	chr7:145928594-145928595	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs73739585	chr7:145928621-145928622	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs802546	chr7:145928627-145928628	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs184022777	chr7:145928633-145928634	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575141905	chr7:145928649-145928650	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs802547	chr7:145928677-145928678	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs188970346	chr7:145928698-145928699	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs369791426	chr7:145928708-145928709	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs563565567	chr7:145928715-145928716	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs111953020	chr7:145928792-145928793	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs542760802	chr7:145928819-145928820	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs34465801	chr7:145928839-145928840	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs802548	chr7:145928858-145928859	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs373046652	chr7:145928874-145928875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs546654505	chr7:145928914-145928915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs193061319	chr7:145928922-145928923	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373982882	chr7:145929038-145929039	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142674883	chr7:145929043-145929044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs802549	chr7:145929059-145929060	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs551795443	chr7:145929083-145929084	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs570280882	chr7:145929101-145929102	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs559026843	chr7:145929114-145929115	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555917606	chr7:145929121-145929122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs114391671	chr7:145929143-145929144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs802550	chr7:145929153-145929154	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs553020948	chr7:145929197-145929198	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs147356426	chr7:145929199-145929200	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550584987	chr7:145929242-145929243	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs12671157	chr7:145929301-145929302	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs183571634	chr7:145929304-145929305	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs35993078	chr7:145929376-145929377	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs373725731	chr7:145929385-145929386	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs368735721	chr7:145929387-145929388	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs201024624	chr7:145929391-145929392	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs199681724	chr7:145929392-145929393	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371685948	chr7:145929394-145929395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs145850112	chr7:145929395-145929396	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200576851	chr7:145929396-145929397	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs375947339	chr7:145929397-145929398	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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

Chromatin state (count:186 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145911200-145932000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:145911400-145932000	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:145911600-145932000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr7:145912600-145945200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr7:145918800-145942600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:145922800-145943600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:145925400-145928600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr7:145925400-145931800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr7:145925400-145935200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr7:145925600-145932800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:145925800-145931800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr7:145927000-145931800	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr7:145927200-145932400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr7:145927400-145931800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr7:145928600-145930200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:145930200-145931800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:145931800-145932800	Enhancers	Brain Cingulate Gyrus	brain
18	chr7:145931800-145935000	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr7:145931800-145935600	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr7:145931800-145936600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr7:145931800-145937200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr7:145931800-145937400	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:145932000-145932800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr7:145932000-145933000	Enhancers	Fetal Brain Female	brain
25	chr7:145932000-145933200	Enhancers	Fetal Brain Male	brain
26	chr7:145932000-145936800	Strong transcription	H9 Cell Line	embryonic stem cell
27	chr7:145932000-145937200	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr7:145932000-145937200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:145932400-145936400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
30	chr7:145932600-145933000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr7:145932800-145935800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr7:145935000-145936600	Genic enhancers	HUES48 Cell Line	embryonic stem cell
33	chr7:145935200-145936000	Enhancers	iPS-15b Cell Line	embryonic stem cell
34	chr7:145935600-145937000	Genic enhancers	HUES64 Cell Line	embryonic stem cell
35	chr7:145935800-145936200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr7:145936200-145936600	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr7:145936400-145936600	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
38	chr7:145936600-145936800	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr7:145936600-145938200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr7:145936600-145938400	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr7:145936600-145941400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr7:145936800-145937800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr7:145936800-145938000	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr7:145937000-145938200	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr7:145937200-145937800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:145937200-145938000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr7:145937200-145939400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:145937400-145937800	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr7:145937800-145938000	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr7:145937800-145938600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell

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