Variant report

Variant	nsv1018868
Chromosome Location	chr7:87639899-87671754
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: 759 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:759 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78511153	chr7:87643604-87643605	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs181425788	chr7:87643628-87643629	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs184448032	chr7:87643633-87643634	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs144490885	chr7:87643639-87643640	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs10253889	chr7:87643641-87643642	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs550451349	chr7:87643779-87643780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs146555202	chr7:87643793-87643794	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs529717735	chr7:87643794-87643795	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190370193	chr7:87643865-87643866	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs566644631	chr7:87643874-87643875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs10228023	chr7:87643887-87643888	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs112808220	chr7:87643916-87643917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs376414482	chr7:87643927-87643928	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs138815899	chr7:87643941-87643942	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539031169	chr7:87644018-87644019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2158766	chr7:87644023-87644024	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs543454524	chr7:87644038-87644039	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575701477	chr7:87644087-87644088	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs536300502	chr7:87644090-87644091	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2022163	chr7:87644091-87644092	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs77419774	chr7:87644130-87644131	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs181962348	chr7:87644131-87644132	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs565235599	chr7:87644148-87644149	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs576473440	chr7:87644188-87644189	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs187504929	chr7:87644217-87644218	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529645084	chr7:87644261-87644262	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs148943437	chr7:87644273-87644274	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs547944334	chr7:87644311-87644312	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs143571067	chr7:87644367-87644368	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs111318107	chr7:87644409-87644410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs190589665	chr7:87644410-87644411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs552550921	chr7:87644423-87644424	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs2022164	chr7:87644433-87644434	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs369229391	chr7:87644438-87644439	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs537708474	chr7:87644449-87644450	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs550952629	chr7:87644459-87644460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs569126393	chr7:87644534-87644535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs549598797	chr7:87644552-87644553	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs554625724	chr7:87644610-87644611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566772526	chr7:87644647-87644648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs180865079	chr7:87644696-87644697	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs185218804	chr7:87644717-87644718	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs547885727	chr7:87644719-87644720	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs373033740	chr7:87644732-87644733	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs138096167	chr7:87644755-87644756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190105240	chr7:87644771-87644772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs556140617	chr7:87644796-87644797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs574336907	chr7:87644854-87644855	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs17150134	chr7:87644917-87644918	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs560284458	chr7:87644943-87644944	Enhancers	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:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:87643600-87645400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr7:87643800-87644200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:87643800-87645000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:87644200-87645800	Enhancers	NHDF-Ad	bronchial
5	chr7:87645000-87649600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr7:87645400-87649600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:87645800-87650200	Weak transcription	NHDF-Ad	bronchial
8	chr7:87648000-87648200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:87648200-87650400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:87649400-87649800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr7:87649400-87649800	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr7:87649400-87650000	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:87649400-87650000	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:87649400-87650000	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:87649400-87650000	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr7:87649600-87650000	Enhancers	H9 Cell Line	embryonic stem cell
17	chr7:87649600-87650000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr7:87649600-87650600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr7:87649600-87651600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr7:87649600-87652000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:87650000-87650800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:87650200-87650800	Enhancers	NHDF-Ad	bronchial
23	chr7:87650200-87651200	Enhancers	Muscle Satellite Cultured Cells	--
24	chr7:87650200-87651200	Enhancers	Hela-S3	cervix
25	chr7:87650200-87651800	Enhancers	HUVEC	blood vessel
26	chr7:87650400-87650600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:87650400-87650800	Enhancers	Adipose Nuclei	Adipose
28	chr7:87650600-87650800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:87650800-87651000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr7:87650800-87651200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr7:87651000-87651200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:87651200-87651600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr7:87659200-87659800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:87659800-87661800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:87661000-87661400	ZNF genes & repeats	Aorta	Aorta
36	chr7:87661000-87663200	ZNF genes & repeats	Fetal Intestine Small	intestine
37	chr7:87661200-87661800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:87661200-87662000	ZNF genes & repeats	Fetal Lung	lung
39	chr7:87661200-87663000	ZNF genes & repeats	Dnd41	blood
40	chr7:87661600-87662600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:87661800-87663400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:87662000-87664000	Weak transcription	Fetal Lung	lung
43	chr7:87663000-87663400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr7:87663000-87664000	Enhancers	Left Ventricle	heart
45	chr7:87663000-87664800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
46	chr7:87663000-87671200	Weak transcription	Dnd41	blood
47	chr7:87663200-87663600	Enhancers	Psoas Muscle	Psoas
48	chr7:87663400-87663600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr7:87664000-87664800	Enhancers	Fetal Lung	lung
50	chr7:87669000-87671400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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