Variant report

Variant	nsv5992
Chromosome Location	chr7:145922744-145967420
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	chr7:145931221..145934684-chr7:145937680..145940356,3	K562	blood:
3	chr7:145950902..145953007-chr7:145958921..145960745,2	K562	blood:
4	chr7:145950902..145953007-chr7:145958921..145960745,2	K562	blood:

Extended variants
information (count: 1619 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1619 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs115676144	chr7:145922786-145922787	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs546401318	chr7:145922793-145922794	Weak transcription Active TSS ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs188136343	chr7:145922887-145922888	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs189635707	chr7:145922903-145922904	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs115978800	chr7:145922942-145922943	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs570402376	chr7:145922944-145922945	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs537721765	chr7:145922947-145922948	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs73739576	chr7:145922987-145922988	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs546303593	chr7:145923015-145923016	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs563342903	chr7:145923018-145923019	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs556705250	chr7:145923021-145923022	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs535183545	chr7:145923030-145923031	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs141381313	chr7:145923033-145923034	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs145237973	chr7:145923118-145923119	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs545049093	chr7:145923135-145923136	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs563336113	chr7:145923156-145923157	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs575189642	chr7:145923172-145923173	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs112225612	chr7:145923176-145923177	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs561208892	chr7:145923212-145923213	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs528291352	chr7:145923231-145923232	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs546726909	chr7:145923255-145923256	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs13242684	chr7:145923256-145923257	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs75082049	chr7:145923258-145923259	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs568356319	chr7:145923344-145923345	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs147682894	chr7:145923355-145923356	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs141002443	chr7:145923365-145923366	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs528058043	chr7:145923375-145923376	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs536214513	chr7:145923451-145923452	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs182316722	chr7:145923452-145923453	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs150187625	chr7:145923470-145923471	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs552548125	chr7:145923483-145923484	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs546315489	chr7:145923531-145923532	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs186710386	chr7:145923532-145923533	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs371163632	chr7:145923565-145923566	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs2539739	chr7:145923581-145923582	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs538733688	chr7:145923639-145923640	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs556964416	chr7:145923649-145923650	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs368239025	chr7:145923721-145923722	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs192386549	chr7:145923798-145923799	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs115010784	chr7:145923814-145923815	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs149005017	chr7:145923838-145923839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs145921681	chr7:145923872-145923873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs540093785	chr7:145923901-145923902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs565057941	chr7:145923972-145923973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs532270709	chr7:145923990-145923991	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs138482755	chr7:145923999-145924000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142917960	chr7:145924008-145924009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2098288	chr7:145924018-145924019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs184729632	chr7:145924021-145924022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs528775158	chr7:145924027-145924028	Weak 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:214 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:145891600-145924800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:145911200-145925000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr7:145911200-145932000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr7:145911400-145932000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:145911600-145932000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:145912000-145924600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:145912600-145945200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr7:145918400-145925000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr7:145918800-145942600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr7:145921800-145924800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:145922200-145923800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:145922600-145922800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr7:145922800-145943600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr7:145923800-145925000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr7:145924600-145925600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr7:145924800-145925400	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr7:145924800-145925600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr7:145924800-145925800	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr7:145924800-145927400	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr7:145925000-145925400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:145925000-145925400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr7:145925000-145925400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr7:145925400-145926200	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr7:145925400-145928600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:145925400-145931800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr7:145925400-145935200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr7:145925600-145926600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:145925600-145932800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:145925800-145931800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr7:145926200-145927000	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr7:145926600-145927200	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr7:145927000-145931800	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr7:145927200-145932400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr7:145927400-145931800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr7:145928600-145930200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr7:145930200-145931800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr7:145931800-145932800	Enhancers	Brain Cingulate Gyrus	brain
38	chr7:145931800-145935000	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr7:145931800-145935600	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr7:145931800-145936600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr7:145931800-145937200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:145931800-145937400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr7:145932000-145932800	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr7:145932000-145933000	Enhancers	Fetal Brain Female	brain
45	chr7:145932000-145933200	Enhancers	Fetal Brain Male	brain
46	chr7:145932000-145936800	Strong transcription	H9 Cell Line	embryonic stem cell
47	chr7:145932000-145937200	Strong transcription	H1 Cell Line	embryonic stem cell
48	chr7:145932000-145937200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:145932400-145936400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
50	chr7:145932600-145933000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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