Variant report

Variant	nsv1023325
Chromosome Location	chr8:49994793-50050571
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:28)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:50031366..50035096-chr8:50036647..50040169,3	K562	blood:
2	chr8:50003812..50005388-chr8:50034210..50037111,2	K562	blood:
3	chr8:49991750..49994604-chr8:49995400..49997837,2	K562	blood:
4	chr8:50039038..50041267-chr8:50044782..50047548,2	K562	blood:
5	chr8:50037357..50040620-chr8:50040803..50044061,4	K562	blood:
6	chr8:50023723..50026392-chr8:50033896..50036136,2	K562	blood:
7	chr8:50023484..50026392-chr8:50032948..50035396,2	K562	blood:
8	chr8:49990025..49992623-chr8:49996686..49998822,3	K562	blood:
9	chr8:50023484..50026392-chr8:50032948..50035396,2	K562	blood:
10	chr8:50039038..50041267-chr8:50044782..50047548,2	K562	blood:
11	chr8:50019288..50021191-chr8:50037884..50039646,2	K562	blood:
12	chr8:50032130..50034951-chr8:50036647..50039869,3	K562	blood:
13	chr8:50029029..50031186-chr8:50035515..50038037,2	K562	blood:
14	chr8:50029029..50031186-chr8:50035515..50038037,2	K562	blood:
15	chr8:50036565..50039449-chr8:50040680..50044061,3	K562	blood:
16	chr8:50023723..50026392-chr8:50033896..50036136,2	K562	blood:
17	chr8:50031366..50035096-chr8:50036647..50040169,3	K562	blood:
18	chr8:50006800..50008317-chr8:50008393..50010023,2	K562	blood:
19	chr8:49986949..49989384-chr8:49993295..49995590,2	K562	blood:
20	chr8:49990906..49993749-chr8:49994694..49997206,2	MCF-7	breast:
21	chr8:50006800..50008317-chr8:50008393..50010023,2	K562	blood:
22	chr8:50019288..50021191-chr8:50037884..50039646,2	K562	blood:
23	chr8:50036565..50039449-chr8:50040680..50044061,3	K562	blood:
24	chr8:50037357..50040620-chr8:50040803..50044061,4	K562	blood:
25	chr8:50003812..50005388-chr8:50034210..50037111,2	K562	blood:
26	chr8:49959355..49961119-chr8:50034461..50036687,2	K562	blood:
27	chr8:50032130..50034951-chr8:50036647..50039869,3	K562	blood:
28	chr8:49957733..49959287-chr8:50036754..50039574,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C8orf22-1	chr8:50013387-50013639	XLOC_006792
2	lnc-C8orf22-1	chr8:49998879-49999091	XLOC_006792
3	lnc-SNAI2-1	chr8:50047181-50047788	NONHSAT126505

No data

Variant related genes	Relation type
C7orf60	miRNA target sites

Extended variants
information (count: 1682 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1682 , 50 per page) page: 1 2 3 4 5 6 7 ... 34

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556197404	chr8:49994887-49994888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs557421164	chr8:49994892-49994893	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs16939409	chr8:49994899-49994900	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs535133333	chr8:49994901-49994902	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs10104597	chr8:49994947-49994948	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs148755507	chr8:49994955-49994956	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs573032796	chr8:49994956-49994957	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs540270967	chr8:49994960-49994961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs564718409	chr8:49994962-49994963	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs576868900	chr8:49994963-49994964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1876717	chr8:49994968-49994969	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
12	rs562543231	chr8:49994998-49994999	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs142356789	chr8:49995010-49995011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548477467	chr8:49995051-49995052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs117712439	chr8:49995053-49995054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs527972050	chr8:49995154-49995155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs113420075	chr8:49995157-49995158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs184169507	chr8:49995160-49995161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs7817388	chr8:49995170-49995171	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs556406835	chr8:49995176-49995177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs549884427	chr8:49995186-49995187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs4873096	chr8:49995201-49995202	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs190734673	chr8:49995231-49995232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536071024	chr8:49995234-49995235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs193063805	chr8:49995280-49995281	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs185434639	chr8:49995281-49995282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1876718	chr8:49995284-49995285	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs558771794	chr8:49995330-49995331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs529309635	chr8:49995404-49995405	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553328547	chr8:49995481-49995482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs78405968	chr8:49995519-49995520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs79781976	chr8:49995551-49995552	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs562602404	chr8:49995610-49995611	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574560599	chr8:49995620-49995621	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs188909166	chr8:49995629-49995630	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs554944395	chr8:49995755-49995756	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs571764170	chr8:49995818-49995819	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs560508833	chr8:49995887-49995888	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370723427	chr8:49995889-49995890	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs548276926	chr8:49995908-49995909	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs542245478	chr8:49995909-49995910	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs10715425	chr8:49995910-49995911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541133703	chr8:49995954-49995955	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs527844154	chr8:49995969-49995970	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552596988	chr8:49995978-49995979	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs564410725	chr8:49995995-49995996	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139718195	chr8:49995997-49995998	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs578113661	chr8:49996027-49996028	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs10435574	chr8:49996028-49996029	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs568262185	chr8:49996081-49996082	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

Disease	PMID	Source
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Lung cancer	18438408	CNVD
Pancreatic cancer	21811587	CNVD
Multiple myeloma	16461302	CNVD
Developmental delay	21373258	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Salivary gland tumor	18059337	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
primary effusion lymphomas	17116491	CNVD
Esophageal cancer	20955586	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Melanoma	17363583	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
Gastric cancer	22014070	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:49987200-49998800	Weak transcription	Psoas Muscle	Psoas
2	chr8:49992000-49994800	Weak transcription	Stomach Mucosa	stomach
3	chr8:49994600-49995000	Enhancers	Skeletal Muscle Female	skeletal muscle
4	chr8:49994800-49995000	Enhancers	Fetal Brain Male	brain
5	chr8:49994800-49995000	Enhancers	Stomach Mucosa	stomach
6	chr8:49995000-49996800	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr8:49995200-49995600	Weak transcription	Fetal Brain Male	brain
8	chr8:49995600-49996200	Enhancers	Fetal Brain Male	brain
9	chr8:49996800-49998800	Strong transcription	Skeletal Muscle Female	skeletal muscle
10	chr8:49998800-50004000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr8:50002200-50002600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:50002800-50007800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr8:50003800-50004600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr8:50004000-50004200	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
15	chr8:50004200-50004400	Enhancers	H9 Cell Line	embryonic stem cell
16	chr8:50004200-50006000	Enhancers	K562	blood
17	chr8:50004200-50006200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:50004200-50006400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr8:50004200-50006600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr8:50004200-50006800	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr8:50004400-50004600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
22	chr8:50004400-50005000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr8:50004400-50006400	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr8:50004600-50004800	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr8:50004600-50005000	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr8:50004600-50006000	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr8:50004800-50006000	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr8:50004800-50006200	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr8:50005000-50005200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr8:50005000-50005200	Enhancers	H9 Cell Line	embryonic stem cell
31	chr8:50005000-50005600	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr8:50005200-50007600	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr8:50005200-50009200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr8:50005600-50006000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr8:50005600-50006000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr8:50006000-50007600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr8:50006000-50008200	Weak transcription	K562	blood
38	chr8:50006200-50006800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr8:50006800-50007000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
40	chr8:50007600-50008200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:50007600-50008200	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
42	chr8:50007800-50008200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr8:50008200-50008800	Enhancers	K562	blood
44	chr8:50008200-50015400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:50008200-50015600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:50009000-50010000	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr8:50009200-50010000	Enhancers	H1 Cell Line	embryonic stem cell
48	chr8:50009200-50010200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:50015600-50016200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr8:50015600-50022400	Weak transcription	Gastric	stomach

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