Variant report

Variant	nsv890964
Chromosome Location	chr8:63848556-63898146
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:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:63878030..63880245-chr8:63911061..63912789,2	K562	blood:
2	chr8:63896894..63899189-chr8:63921841..63923926,2	MCF-7	breast:
3	chr8:63842222..63844345-chr8:63846508..63849240,2	K562	blood:
4	chr8:63862703..63864754-chr8:63949997..63951968,2	K562	blood:
5	chr8:62722292..62723197-chr8:63896539..63897247,2	MCF-7	breast:
6	chr8:63883110..63885219-chr8:64022208..64024652,2	K562	blood:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-32K4.2.1-6	chr8:63894179-63897460	NONHSAT126910
2	lnc-RP11-32K4.2.1-6	chr8:63890420-63897460	NONHSAT126909

No data

Variant related genes	Relation type
ENSG00000137563	chromatin interactions

Extended variants
information (count: 1763 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1763 , 50 per page) page: 1 2 3 4 5 6 7 ... 36

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532181492	chr8:63848803-63848804	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs547169969	chr8:63848809-63848810	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs184967214	chr8:63848824-63848825	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs530387297	chr8:63848833-63848834	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs536372586	chr8:63848834-63848835	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs139669418	chr8:63848916-63848917	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs530523887	chr8:63850220-63850221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs58437381	chr8:63850254-63850255	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs181403354	chr8:63850259-63850260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs528371926	chr8:63850330-63850331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs546519165	chr8:63850361-63850362	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs565735686	chr8:63850392-63850393	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs536289286	chr8:63850393-63850394	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs554556031	chr8:63850410-63850411	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7011737	chr8:63850443-63850444	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs186160609	chr8:63850485-63850486	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs537162127	chr8:63850486-63850487	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs559088304	chr8:63850495-63850496	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs375631639	chr8:63850508-63850509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs577392388	chr8:63850535-63850536	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541741468	chr8:63850574-63850575	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs567733878	chr8:63850610-63850611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs536315138	chr8:63850677-63850678	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs1598454	chr8:63850700-63850701	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs575219187	chr8:63850708-63850709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs541798993	chr8:63850775-63850776	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568254932	chr8:63858406-63858407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs189444613	chr8:63858413-63858414	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs116861286	chr8:63858425-63858426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544531626	chr8:63858461-63858462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553805311	chr8:63858497-63858498	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563525350	chr8:63858498-63858499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs557392169	chr8:63858504-63858505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530974767	chr8:63858537-63858538	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs543582954	chr8:63858554-63858555	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs546223380	chr8:63858570-63858571	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs193180147	chr8:63858590-63858591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs528613007	chr8:63858624-63858625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs185145185	chr8:63858637-63858638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568665851	chr8:63858653-63858654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368129263	chr8:63858676-63858677	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs78241108	chr8:63858683-63858684	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs558691781	chr8:63858737-63858738	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190790341	chr8:63858744-63858745	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181944810	chr8:63858756-63858757	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538998968	chr8:63858770-63858771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs78875687	chr8:63858782-63858783	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs534295136	chr8:63858785-63858786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs374528171	chr8:63858791-63858792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs1563327	chr8:63858798-63858799	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:97)

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
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:63848800-63849000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:63850200-63850800	Enhancers	ES-I3 Cell Line	embryonic stem cell
3	chr8:63850200-63850800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:63850200-63850800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr8:63850200-63850800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr8:63858400-63859600	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr8:63858800-63859000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr8:63858800-63859000	Enhancers	Spleen	Spleen
9	chr8:63858800-63860000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr8:63858800-63860600	Enhancers	Fetal Intestine Large	intestine
11	chr8:63858800-63860600	Enhancers	Fetal Intestine Small	intestine
12	chr8:63859000-63859200	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr8:63859200-63859600	Enhancers	Rectal Mucosa Donor 31	rectum
14	chr8:63859400-63859800	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr8:63859600-63860000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:63859600-63877800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr8:63859800-63860000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr8:63860000-63860600	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr8:63860200-63860400	Enhancers	Right Atrium	heart
20	chr8:63860200-63860400	Enhancers	Sigmoid Colon	Sigmoid Colon
21	chr8:63860200-63860400	Enhancers	Spleen	Spleen
22	chr8:63860200-63860800	Enhancers	HMEC	breast
23	chr8:63860400-63863600	Weak transcription	Right Atrium	heart
24	chr8:63861600-63863800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr8:63862000-63862200	Enhancers	Primary hematopoietic stem cells	blood
26	chr8:63862000-63863800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:63862200-63863200	Weak transcription	Primary hematopoietic stem cells	blood
28	chr8:63863200-63863800	Enhancers	Primary hematopoietic stem cells	blood
29	chr8:63863400-63863800	Enhancers	Adipose Nuclei	Adipose
30	chr8:63863600-63863800	Enhancers	Right Atrium	heart
31	chr8:63865200-63866600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr8:63866600-63867800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:63867800-63868000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr8:63867800-63868600	Enhancers	Fetal Brain Female	brain
35	chr8:63868200-63869200	Enhancers	Fetal Brain Male	brain
36	chr8:63868600-63895800	Weak transcription	Fetal Brain Female	brain
37	chr8:63870800-63871200	Enhancers	Placenta	Placenta
38	chr8:63871200-63871600	Weak transcription	Placenta	Placenta
39	chr8:63871600-63871800	Enhancers	Placenta	Placenta
40	chr8:63871800-63875400	Weak transcription	Placenta	Placenta
41	chr8:63875400-63876600	Enhancers	Placenta	Placenta
42	chr8:63877400-63878000	Enhancers	Brain Germinal Matrix	brain
43	chr8:63877800-63880200	Strong transcription	Cortex derived primary cultured neurospheres	brain
44	chr8:63878000-63892000	Weak transcription	Brain Germinal Matrix	brain
45	chr8:63880200-63888000	Weak transcription	Cortex derived primary cultured neurospheres	brain
46	chr8:63888000-63888200	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
47	chr8:63892000-63892600	Enhancers	Brain Germinal Matrix	brain
48	chr8:63892200-63892600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr8:63895200-63896200	Enhancers	Fetal Intestine Large	intestine
50	chr8:63895400-63895600	Bivalent Enhancer	A549	lung

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