Variant report

Variant	nsv520442
Chromosome Location	chr8:62928715-62962071
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:7)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:62938324..62940496-chr8:62944445..62947217,2	K562	blood:
2	chr8:62943835..62945926-chr8:62946749..62948814,2	K562	blood:
3	chr8:62943835..62945926-chr8:62946749..62948814,2	K562	blood:
4	chr8:62938150..62940278-chr8:62941501..62943278,2	K562	blood:
5	chr8:62938150..62940278-chr8:62941501..62943278,2	K562	blood:
6	chr8:62938324..62940496-chr8:62944445..62947217,2	K562	blood:
7	chr8:62884871..62886740-chr8:62945521..62948449,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NKAIN3-12	chr8:62944470-62944723	l_3612_chr8:62900432-62937354_testes
2	lnc-NKAIN3-12	chr8:62936883-62937354	l_3612_chr8:62900432-62937354_testes
3	lnc-NKAIN3-12	chr8:62960399-62960658	l_3612_chr8:62900432-62937354_testes

No data

Extended variants
information (count: 993 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:993 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs344229	chr8:62928715-62928716	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs548788821	chr8:62928789-62928790	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs564082894	chr8:62936838-62936839	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs563042021	chr8:62936852-62936853	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs533138335	chr8:62936872-62936873	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs6996491	chr8:62936886-62936887	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs79770002	chr8:62936887-62936888	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
8	rs564372381	chr8:62936901-62936902	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
9	rs183596758	chr8:62936937-62936938	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
10	rs188936378	chr8:62936955-62936956	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
11	rs16928235	chr8:62936979-62936980	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs146113455	chr8:62936980-62936981	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
13	rs528916712	chr8:62936987-62936988	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
14	rs529247182	chr8:62936988-62936989	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
15	rs79905260	chr8:62937048-62937049	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
16	rs191023365	chr8:62937052-62937053	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
17	rs530865312	chr8:62937094-62937095	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
18	rs681078	chr8:62937140-62937141	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs679344	chr8:62937144-62937145	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs528291137	chr8:62937150-62937151	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
21	rs344214	chr8:62937159-62937160	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs182332235	chr8:62937193-62937194	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
23	rs62135	chr8:62937195-62937196	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs367556189	chr8:62937231-62937232	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
25	rs556581301	chr8:62937296-62937297	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
26	rs7014932	chr8:62937349-62937350	Enhancers	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs140196345	chr8:62937354-62937355	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
28	rs35437474	chr8:62937380-62937381	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs142230434	chr8:62937387-62937388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs7015102	chr8:62937439-62937440	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs540476206	chr8:62937442-62937443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs186661242	chr8:62937452-62937453	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146315021	chr8:62937465-62937466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574096681	chr8:62937480-62937481	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs550237016	chr8:62937525-62937526	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191855988	chr8:62937558-62937559	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562904024	chr8:62937591-62937592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs533387476	chr8:62937673-62937674	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541377066	chr8:62937731-62937732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs79456686	chr8:62937737-62937738	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577717515	chr8:62937763-62937764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs182782004	chr8:62937786-62937787	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs528242761	chr8:62937807-62937808	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs188207978	chr8:62937870-62937871	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568140841	chr8:62937875-62937876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs529015332	chr8:62937887-62937888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs578050562	chr8:62937889-62937890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs545129022	chr8:62937904-62937905	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs539060306	chr8:62937943-62937944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs116920040	chr8:62937997-62937998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:96)

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
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Disorders of sex development	21048976	CNVD
Testicular cancer	18059402	CNVD
Acute lymphoblastic leukemia	22237106	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
Multiple myeloma	16461302	CNVD
abnormal development	18461090	CNVD
Cancer	20164920	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
Salivary gland tumor	18059337	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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	22183965	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Sezary syndrome	18413736	CNVD
Colorectal cancer	21645411	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
early-passage human iPS cells	21368824	CNVD

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:62928000-62928800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr8:62928000-62928800	Enhancers	Gastric	stomach
3	chr8:62936800-62937600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr8:62937200-62937400	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:62937400-62938000	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr8:62937600-62937800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:62937600-62939600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:62937800-62939600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:62938000-62938200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr8:62938200-62939200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr8:62939200-62939800	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr8:62939200-62940200	Enhancers	Fetal Brain Male	brain
13	chr8:62939600-62939800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr8:62939600-62939800	Enhancers	Fetal Brain Female	brain
15	chr8:62939600-62940000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr8:62939600-62940600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:62939600-62940600	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr8:62939600-62940800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr8:62939800-62940000	Enhancers	Brain Germinal Matrix	brain
20	chr8:62939800-62940400	Active TSS	Fetal Brain Female	brain
21	chr8:62939800-62940600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr8:62939800-62941000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr8:62940000-62940200	Active TSS	Brain Angular Gyrus	brain
24	chr8:62940000-62940200	Active TSS	Fetal Stomach	stomach
25	chr8:62940000-62940200	Active TSS	NH-A	brain
26	chr8:62940000-62940400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr8:62940000-62940400	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
28	chr8:62940000-62940400	Active TSS	Brain Inferior Temporal Lobe	brain
29	chr8:62940000-62940400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr8:62940000-62940400	Active TSS	Stomach Smooth Muscle	stomach
31	chr8:62940000-62940400	Flanking Bivalent TSS/Enh	HSMMtube	muscle
32	chr8:62940000-62940600	Active TSS	Muscle Satellite Cultured Cells	--
33	chr8:62940000-62940600	Active TSS	Brain Anterior Caudate	brain
34	chr8:62940000-62940600	Flanking Active TSS	Brain Germinal Matrix	brain
35	chr8:62940000-62940600	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr8:62940000-62940600	Enhancers	HSMM	muscle
37	chr8:62940000-62940800	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr8:62940000-62941000	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr8:62940200-62940400	Flanking Active TSS	Fetal Stomach	stomach
40	chr8:62940200-62940400	Flanking Active TSS	NH-A	brain
41	chr8:62940200-62940600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr8:62940200-62940600	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr8:62940200-62940600	Flanking Active TSS	Fetal Brain Male	brain
44	chr8:62940200-62940800	Enhancers	H1 Cell Line	embryonic stem cell
45	chr8:62940200-62940800	Enhancers	Fetal Muscle Leg	muscle
46	chr8:62940200-62941000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr8:62940200-62941000	Bivalent Enhancer	Brain Cingulate Gyrus	brain
48	chr8:62940400-62940600	Active TSS	Brain Hippocampus Middle	brain
49	chr8:62940400-62940600	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
50	chr8:62940400-62940600	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain

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