Variant report

Variant	nsv831329
Chromosome Location	chr8:60162977-60356031
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:13)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:60349625..60352522-chr8:60358997..60361385,2	K562	blood:
2	chr8:60303688..60306205-chr8:60408820..60411087,2	K562	blood:
3	chr8:60307556..60310133-chr8:60318318..60320436,2	K562	blood:
4	chr8:60307556..60310133-chr8:60318318..60320436,2	K562	blood:
5	chr8:60236324..60239017-chr8:60241873..60244334,2	MCF-7	breast:
6	chr8:60264224..60266326-chr8:60266427..60268399,2	K562	blood:
7	chr8:60352662..60355420-chr8:60364405..60366691,2	K562	blood:
8	chr8:60264224..60266326-chr8:60266427..60268399,2	K562	blood:
9	chr8:60270318..60271875-chr8:60274683..60276592,2	K562	blood:
10	chr8:60127735..60128371-chr8:60214631..60215199,2	MCF-7	breast:
11	chr8:60270318..60271875-chr8:60274683..60276592,2	K562	blood:
12	chr8:60236324..60239017-chr8:60241873..60244334,2	MCF-7	breast:
13	chr8:60353422..60355080-chr8:60359821..60362576,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SDCBP-5	chr8:60196083-60196450	l_3606_chr8:60194334-60196450_lymphNode
2	lnc-SDCBP-5	chr8:60195449-60196075	l_3606_chr8:60194334-60196450_lymphNode
3	lnc-SDCBP-5	chr8:60194335-60194398	l_3606_chr8:60194334-60196450_lymphNode

No data

Extended variants
information (count: 4685 )
Associated
traits (count: 96 )

Variant overlapped rSNPs/rCNVs (count:4685 , 50 per page) page: 1 2 3 4 5 6 7 ... 94

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530332404	chr8:60173007-60173008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs117800996	chr8:60173060-60173061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535680727	chr8:60173082-60173083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555678489	chr8:60173104-60173105	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs572542626	chr8:60173111-60173112	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534812852	chr8:60173147-60173148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs116541595	chr8:60173180-60173181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs578081865	chr8:60173183-60173184	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs561362028	chr8:60173191-60173192	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs548836583	chr8:60173221-60173222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs543825145	chr8:60173280-60173281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs34889378	chr8:60173281-60173282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563605830	chr8:60173346-60173347	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs368617259	chr8:60173397-60173398	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs571317773	chr8:60173406-60173407	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs542850429	chr8:60173457-60173458	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs559289709	chr8:60173469-60173470	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs13438889	chr8:60173513-60173514	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs551206538	chr8:60173518-60173519	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs371219721	chr8:60173561-60173562	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs116029514	chr8:60173568-60173569	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs4412358	chr8:60173581-60173582	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs532548117	chr8:60173595-60173596	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs550139339	chr8:60173618-60173619	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs570059357	chr8:60173675-60173676	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs4562302	chr8:60173691-60173692	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs111685567	chr8:60173774-60173775	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs4257993	chr8:60173832-60173833	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs74729263	chr8:60173886-60173887	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs79091566	chr8:60173887-60173888	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs578130647	chr8:60173890-60173891	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs191551138	chr8:60173897-60173898	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs548457428	chr8:60174039-60174040	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs557385945	chr8:60174042-60174043	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs574044706	chr8:60174047-60174048	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs542558671	chr8:60174054-60174055	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs76648496	chr8:60174060-60174061	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs572966847	chr8:60174091-60174092	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs545170506	chr8:60174116-60174117	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs564666078	chr8:60174138-60174139	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs376004137	chr8:60174141-60174142	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs183207133	chr8:60174150-60174151	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs369012702	chr8:60174165-60174166	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs547857799	chr8:60174237-60174238	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs560559808	chr8:60174254-60174255	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs9886422	chr8:60174258-60174259	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs549429130	chr8:60174260-60174261	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs111826522	chr8:60174261-60174262	Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs4475464	chr8:60174262-60174263	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs188094697	chr8:60174263-60174264	Enhancers Flanking Active TSS	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
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
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
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
Breast cancer	22522925	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:676 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:60173000-60177400	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:60173200-60173400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr8:60173200-60173400	Enhancers	Spleen	Spleen
4	chr8:60173200-60174000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr8:60173200-60176000	Enhancers	GM12878-XiMat	blood
6	chr8:60173200-60176600	Enhancers	Primary B cells from cord blood	blood
7	chr8:60173200-60177000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:60173200-60179800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr8:60173400-60174400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr8:60173400-60174400	Enhancers	Fetal Brain Male	brain
11	chr8:60173800-60174800	Enhancers	Hela-S3	cervix
12	chr8:60173800-60176600	Enhancers	Primary hematopoietic stem cells	blood
13	chr8:60174000-60174200	Enhancers	Spleen	Spleen
14	chr8:60174000-60174400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr8:60174000-60174800	Enhancers	HMEC	breast
16	chr8:60174000-60175000	Enhancers	HUVEC	blood vessel
17	chr8:60174400-60176200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr8:60174400-60176400	Weak transcription	Fetal Brain Male	brain
19	chr8:60174400-60177400	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr8:60174800-60178400	Weak transcription	Hela-S3	cervix
21	chr8:60175000-60176400	Weak transcription	HUVEC	blood vessel
22	chr8:60175600-60175800	Enhancers	Duodenum Mucosa	Duodenum
23	chr8:60175600-60176800	Enhancers	Fetal Kidney	kidney
24	chr8:60175800-60176000	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr8:60175800-60176800	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr8:60175800-60177000	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr8:60175800-60177200	Enhancers	Colon Smooth Muscle	Colon
28	chr8:60176200-60176600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:60176200-60177200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr8:60176400-60176800	Active TSS	Duodenum Mucosa	Duodenum
31	chr8:60176400-60176800	Enhancers	HUVEC	blood vessel
32	chr8:60176400-60177000	Enhancers	Dnd41	blood
33	chr8:60176400-60177600	Enhancers	Fetal Brain Male	brain
34	chr8:60176600-60177000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr8:60176600-60177000	Enhancers	Small Intestine	intestine
36	chr8:60176600-60178600	Weak transcription	Primary hematopoietic stem cells	blood
37	chr8:60176800-60177200	Enhancers	Brain Hippocampus Middle	brain
38	chr8:60176800-60178400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr8:60177000-60177600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr8:60177200-60179200	Weak transcription	Colon Smooth Muscle	Colon
41	chr8:60177200-60179600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr8:60177400-60178600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr8:60177600-60194800	Weak transcription	Fetal Brain Male	brain
44	chr8:60178400-60179200	Enhancers	Hela-S3	cervix
45	chr8:60178600-60179200	Enhancers	Stomach Smooth Muscle	stomach
46	chr8:60178600-60179400	Enhancers	Primary hematopoietic stem cells	blood
47	chr8:60178600-60179400	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr8:60179200-60179600	Enhancers	Ovary	ovary
49	chr8:60179200-60179600	Active TSS	Stomach Smooth Muscle	stomach
50	chr8:60179200-60179800	Enhancers	Colon Smooth Muscle	Colon

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