Variant report

Variant	nsv971239
Chromosome Location	chr8:59426165-59431020
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:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:59430665..59433091-chr8:59466254..59469171,2	MCF-7	breast:
2	chr8:59371505..59373011-chr8:59425261..59426543,6	MCF-7	breast:
3	chr8:59427203..59429357-chr8:59463844..59466674,2	MCF-7	breast:
4	chr8:59425928..59427562-chr8:59435770..59438126,2	K562	blood:
5	chr8:59425486..59426187-chr8:59614319..59614923,2	K562	blood:
6	chr8:59371400..59372798-chr8:59425500..59426400,6	MCF-7	breast:
7	chr8:59426736..59428252-chr8:59432514..59434480,2	MCF-7	breast:
8	chr8:59430334..59433432-chr8:59437534..59439556,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SDCBP-1	chr8:59426551-59426582	XLOC_006811

No data

Variant related genes	Relation type
ENSG00000137575	chromatin interactions
PI4K2B	miRNA target sites

Extended variants
information (count: 121 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116775071	chr8:59426165-59426166	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs564062748	chr8:59426188-59426189	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs532747235	chr8:59426189-59426190	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs189969726	chr8:59426195-59426196	Enhancers Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs138296746	chr8:59426211-59426212	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs538158670	chr8:59426225-59426226	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs572658949	chr8:59426228-59426229	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs528588067	chr8:59426249-59426250	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs534167481	chr8:59426257-59426258	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs554223226	chr8:59426295-59426296	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs577442098	chr8:59426300-59426301	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs539814352	chr8:59426313-59426314	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs556609809	chr8:59426317-59426318	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs576362737	chr8:59426347-59426348	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs181237142	chr8:59426371-59426372	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs186264430	chr8:59426389-59426390	Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs572192472	chr8:59426493-59426494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs540897136	chr8:59426497-59426498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs545444918	chr8:59426576-59426577	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs563811180	chr8:59426586-59426587	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs532879453	chr8:59426612-59426613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs539940430	chr8:59426624-59426625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs78373599	chr8:59426649-59426650	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs562949965	chr8:59426655-59426656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs142889138	chr8:59426719-59426720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs371635931	chr8:59426734-59426735	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs548855070	chr8:59426764-59426765	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4573256	chr8:59426765-59426766	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs530908179	chr8:59426815-59426816	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs189182178	chr8:59426828-59426829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs2326078	chr8:59426879-59426880	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs567606933	chr8:59426898-59426899	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146098215	chr8:59426899-59426900	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs139255000	chr8:59426920-59426921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539948997	chr8:59426954-59426955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs72647421	chr8:59426958-59426959	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180707194	chr8:59427011-59427012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs535516413	chr8:59427038-59427039	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs555615694	chr8:59427103-59427104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs546778344	chr8:59427232-59427233	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs370348508	chr8:59427246-59427247	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs142620965	chr8:59427335-59427336	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs566681269	chr8:59427337-59427338	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs557545178	chr8:59427380-59427381	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs577274977	chr8:59427413-59427414	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs543113539	chr8:59427454-59427455	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs150586189	chr8:59427494-59427495	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs144900025	chr8:59427541-59427542	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs528863234	chr8:59427543-59427544	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs538859235	chr8:59427575-59427576	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
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
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
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
Lung cancer	18438408	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16461572	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
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Colorectal cancer	21645411	CNVD
Melanoma	22183965	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59425400-59426200	Weak transcription	Psoas Muscle	Psoas
2	chr8:59425600-59426200	Enhancers	Liver	Liver
3	chr8:59425600-59426400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:59426000-59426200	Enhancers	Hela-S3	cervix
5	chr8:59426000-59426400	Enhancers	Dnd41	blood
6	chr8:59426000-59426400	Enhancers	HMEC	breast
7	chr8:59426000-59426400	Active TSS	K562	blood
8	chr8:59426200-59426400	Enhancers	Psoas Muscle	Psoas
9	chr8:59426400-59428000	Weak transcription	Psoas Muscle	Psoas
10	chr8:59428000-59428400	Enhancers	Hela-S3	cervix
11	chr8:59429200-59429600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr8:59429200-59429800	Enhancers	Primary monocytes fromperipheralblood	blood

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