Variant report

Variant	nsv1021303
Chromosome Location	chr7:87646755-87672380
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:87665716..87668051-chr7:87668778..87671387,2	K562	blood:
2	chr7:87665716..87668051-chr7:87668778..87671387,2	K562	blood:

Extended variants
information (count: 667 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:667 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11972409	chr7:87646755-87646756	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs200148657	chr7:87646794-87646795	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531278875	chr7:87646916-87646917	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149902777	chr7:87646952-87646953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550110273	chr7:87646955-87646956	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs575685212	chr7:87646976-87646977	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs568610690	chr7:87646986-87646987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs536168335	chr7:87647007-87647008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs552782997	chr7:87647048-87647049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs565705891	chr7:87647062-87647063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs567307390	chr7:87647072-87647073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs200920533	chr7:87647088-87647089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs561551141	chr7:87647099-87647100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs115112674	chr7:87647100-87647101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs191722507	chr7:87647110-87647111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs576061512	chr7:87647120-87647121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs530256641	chr7:87647126-87647127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547154427	chr7:87647151-87647152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs537123945	chr7:87647176-87647177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs184941207	chr7:87647211-87647212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs573485980	chr7:87647212-87647213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536408670	chr7:87647222-87647223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146374824	chr7:87647289-87647290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs541341071	chr7:87647294-87647295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs559220511	chr7:87647300-87647301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139670898	chr7:87647341-87647342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559353118	chr7:87647390-87647391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189871212	chr7:87647454-87647455	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs144375029	chr7:87647479-87647480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs531734237	chr7:87647554-87647555	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181927147	chr7:87647560-87647561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs60817019	chr7:87647590-87647591	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs185392454	chr7:87647611-87647612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577978443	chr7:87647680-87647681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548153482	chr7:87647749-87647750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs375384338	chr7:87647750-87647751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs189275047	chr7:87647769-87647770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533622324	chr7:87647780-87647781	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146640737	chr7:87647857-87647858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs569602371	chr7:87647890-87647891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545029600	chr7:87647897-87647898	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs536780094	chr7:87647898-87647899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs555419983	chr7:87647910-87647911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs182039362	chr7:87647926-87647927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs534502353	chr7:87647927-87647928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs552708162	chr7:87647953-87647954	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs577517288	chr7:87648010-87648011	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545258294	chr7:87648014-87648015	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs557879335	chr7:87648041-87648042	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs148786776	chr7:87648063-87648064	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

Disease	PMID	Source
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	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
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	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
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	16616336	CNVD
Burkitt''s lymphoma	19759907	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Prostate cancer	22341455	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87645000-87649600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:87645400-87649600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr7:87645800-87650200	Weak transcription	NHDF-Ad	bronchial
4	chr7:87648000-87648200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr7:87648200-87650400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:87649400-87649800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr7:87649400-87649800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr7:87649400-87650000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr7:87649400-87650000	Enhancers	HUES6 Cell Line	embryonic stem cell
10	chr7:87649400-87650000	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr7:87649400-87650000	Enhancers	iPS-20b Cell Line	embryonic stem cell
12	chr7:87649600-87650000	Enhancers	H9 Cell Line	embryonic stem cell
13	chr7:87649600-87650000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:87649600-87650600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr7:87649600-87651600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:87649600-87652000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:87650000-87650800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr7:87650200-87650800	Enhancers	NHDF-Ad	bronchial
19	chr7:87650200-87651200	Enhancers	Muscle Satellite Cultured Cells	--
20	chr7:87650200-87651200	Enhancers	Hela-S3	cervix
21	chr7:87650200-87651800	Enhancers	HUVEC	blood vessel
22	chr7:87650400-87650600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:87650400-87650800	Enhancers	Adipose Nuclei	Adipose
24	chr7:87650600-87650800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr7:87650800-87651000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr7:87650800-87651200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:87651000-87651200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr7:87651200-87651600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr7:87659200-87659800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr7:87659800-87661800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:87661000-87661400	ZNF genes & repeats	Aorta	Aorta
32	chr7:87661000-87663200	ZNF genes & repeats	Fetal Intestine Small	intestine
33	chr7:87661200-87661800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:87661200-87662000	ZNF genes & repeats	Fetal Lung	lung
35	chr7:87661200-87663000	ZNF genes & repeats	Dnd41	blood
36	chr7:87661600-87662600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:87661800-87663400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:87662000-87664000	Weak transcription	Fetal Lung	lung
39	chr7:87663000-87663400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr7:87663000-87664000	Enhancers	Left Ventricle	heart
41	chr7:87663000-87664800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:87663000-87671200	Weak transcription	Dnd41	blood
43	chr7:87663200-87663600	Enhancers	Psoas Muscle	Psoas
44	chr7:87663400-87663600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr7:87664000-87664800	Enhancers	Fetal Lung	lung
46	chr7:87669000-87671400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr7:87669200-87669600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr7:87669400-87670400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:87669600-87670000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr7:87669800-87670600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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