Variant report

Variant	nsv888090
Chromosome Location	chr7:61089583-61252967
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 3049 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:3049 , 50 per page) page: 1 2 3 4 5 6 7 ... 61

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111593063	chr7:61089583-61089584	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs571150484	chr7:61089590-61089591	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531939221	chr7:61089592-61089593	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs181670738	chr7:61089593-61089594	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs150198503	chr7:61089604-61089605	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs56283826	chr7:61089606-61089607	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs569561002	chr7:61089612-61089613	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs61005223	chr7:61089617-61089618	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs370531165	chr7:61089626-61089627	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs113753729	chr7:61089636-61089637	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs376050391	chr7:61089641-61089642	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs56172921	chr7:61089648-61089649	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369432312	chr7:61089657-61089658	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs201114149	chr7:61089663-61089664	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539236866	chr7:61089664-61089665	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs557575596	chr7:61089665-61089666	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs575912701	chr7:61089675-61089676	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112126379	chr7:61089679-61089680	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs543390464	chr7:61089681-61089682	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs555309976	chr7:61089690-61089691	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376657788	chr7:61089694-61089695	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs573580081	chr7:61089698-61089699	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs541076195	chr7:61089704-61089705	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs199965267	chr7:61089709-61089710	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559501478	chr7:61089714-61089715	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs533100382	chr7:61089744-61089745	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546417248	chr7:61089759-61089760	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs200921662	chr7:61089763-61089764	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs112414991	chr7:61089774-61089775	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs202187342	chr7:61089776-61089777	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373351752	chr7:61089778-61089779	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs111784798	chr7:61089781-61089782	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113220400	chr7:61089783-61089784	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs564703447	chr7:61089785-61089786	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs531997537	chr7:61089792-61089793	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs112581207	chr7:61089808-61089809	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs550227085	chr7:61089814-61089815	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs62462096	chr7:61089819-61089820	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs200276410	chr7:61089823-61089824	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs188424818	chr7:61089831-61089832	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9692128	chr7:61089834-61089835	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs529278369	chr7:61089842-61089843	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs547426101	chr7:61089861-61089862	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs62462097	chr7:61089863-61089864	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs199799780	chr7:61089865-61089866	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs565829743	chr7:61089868-61089869	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs62462098	chr7:61089871-61089872	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201319198	chr7:61089872-61089873	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62462099	chr7:61089873-61089874	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116460618	chr7:61089889-61089890	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	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
Glioblastoma	21080181	CNVD
Autism	18414403	CNVD
Colorectal cancer	16272173	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Recurrent pregnancy loss	19789632	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:61085400-61093200	Weak transcription	K562	blood
2	chr7:61087600-61090800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
3	chr7:61087600-61098000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
4	chr7:61087800-61090200	ZNF genes & repeats	Liver	Liver
5	chr7:61087800-61098000	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
6	chr7:61088000-61092400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:61090000-61090400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
8	chr7:61090000-61090400	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
9	chr7:61090000-61090600	ZNF genes & repeats	HUVEC	blood vessel
10	chr7:61091400-61091800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
11	chr7:61091400-61098000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
12	chr7:61091600-61092000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
13	chr7:61091800-61092000	ZNF genes & repeats	Colon Smooth Muscle	Colon
14	chr7:61091800-61092000	ZNF genes & repeats	HUVEC	blood vessel
15	chr7:61092200-61099600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr7:61093800-61097200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:61095400-61095600	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
18	chr7:61095400-61095600	ZNF genes & repeats	Primary T killer memory cells from peripheral blood	blood
19	chr7:61095400-61095600	ZNF genes & repeats	Fetal Lung	lung
20	chr7:61095400-61097000	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
21	chr7:61096400-61097000	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:61096600-61098000	ZNF genes & repeats	Liver	Liver
23	chr7:61097000-61099400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:61097200-61097800	ZNF genes & repeats	Psoas Muscle	Psoas
25	chr7:61097400-61098000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
26	chr7:61097600-61098000	ZNF genes & repeats	Adipose Nuclei	Adipose
27	chr7:61097600-61098000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
28	chr7:61097800-61099200	Weak transcription	Psoas Muscle	Psoas
29	chr7:61098000-61099200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr7:61098000-61099400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr7:61098000-61099400	Weak transcription	Liver	Liver
32	chr7:61098000-61099400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr7:61098200-61099400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr7:61099200-61100400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:61099200-61100400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
36	chr7:61099200-61100400	ZNF genes & repeats	Psoas Muscle	Psoas
37	chr7:61099200-61100400	ZNF genes & repeats	Thymus	Thymus
38	chr7:61099400-61100000	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
39	chr7:61099400-61100200	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
40	chr7:61099400-61100200	ZNF genes & repeats	Rectal Smooth Muscle	rectum
41	chr7:61099400-61100400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
42	chr7:61099400-61100400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr7:61099400-61100400	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr7:61099400-61100400	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
45	chr7:61099400-61100400	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 2	blood
46	chr7:61099400-61100400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
47	chr7:61099400-61100400	ZNF genes & repeats	Primary T killer naive cells fromperipheralblood	blood
48	chr7:61099400-61100400	ZNF genes & repeats	Liver	Liver
49	chr7:61099400-61100400	ZNF genes & repeats	Brain Substantia Nigra	brain
50	chr7:61099400-61100400	ZNF genes & repeats	Rectal Mucosa Donor 31	rectum

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