Variant report

Variant	nsv539651
Chromosome Location	chr8:78540652-78902770
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:78818147..78820890-chr8:78825975..78828143,2	K562	blood:
2	chr8:78818147..78820890-chr8:78825975..78828143,2	K562	blood:
3	chr8:78862598..78865404-chr8:78866087..78868629,2	K562	blood:
4	chr8:78768514..78770860-chr8:78814182..78816443,2	K562	blood:
5	chr8:78626426..78628244-chr8:78635247..78637782,2	MCF-7	breast:
6	chr13:31039728..31040439-chr8:78741209..78742131,2	HCT-116	colon:
7	chr8:78862598..78865404-chr8:78866087..78868629,2	K562	blood:
8	chr8:78707661..78708324-chr8:78731286..78732048,2	MCF-7	breast:
9	chr8:78707661..78708324-chr8:78731286..78732048,2	MCF-7	breast:
10	chr8:78768514..78770860-chr8:78814182..78816443,2	K562	blood:
11	chr8:78626426..78628244-chr8:78635247..78637782,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000189403	chromatin interactions

Extended variants
information (count: 2886 )
Associated
traits (count: 105 )

Variant overlapped rSNPs/rCNVs (count:2886 , 50 per page) page: 1 2 3 4 5 6 7 ... 58

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530041652	chr8:78541411-78541412	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs542175124	chr8:78541415-78541416	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs560381536	chr8:78541416-78541417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs146207798	chr8:78541429-78541430	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs61392281	chr8:78541434-78541435	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs11986712	chr8:78541548-78541549	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs565234976	chr8:78541630-78541631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs576771534	chr8:78541661-78541662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532429282	chr8:78541665-78541666	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs550577215	chr8:78541749-78541750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111435725	chr8:78541760-78541761	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs79674429	chr8:78541774-78541775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139159402	chr8:78541825-78541826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187262812	chr8:78541840-78541841	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs548643348	chr8:78541846-78541847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs567151722	chr8:78541874-78541875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs144000178	chr8:78541888-78541889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs566953863	chr8:78541890-78541891	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367846855	chr8:78541908-78541909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs372669846	chr8:78541909-78541910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs559067776	chr8:78541935-78541936	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576883692	chr8:78541967-78541968	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs145923839	chr8:78541968-78541969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369194817	chr8:78541980-78541981	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs16939521	chr8:78542030-78542031	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs17382111	chr8:78542041-78542042	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs17382125	chr8:78542115-78542116	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs560231968	chr8:78542126-78542127	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs560707379	chr8:78542158-78542159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs572255146	chr8:78542168-78542169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs554366276	chr8:78542172-78542173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs375469075	chr8:78542176-78542177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs17382153	chr8:78542184-78542185	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs191714888	chr8:78542209-78542210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs532491884	chr8:78542223-78542224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550688711	chr8:78542244-78542245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs72669008	chr8:78542245-78542246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530083404	chr8:78542281-78542282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs17466971	chr8:78542294-78542295	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs77455674	chr8:78542315-78542316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534472571	chr8:78542317-78542318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs552521327	chr8:78542321-78542322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs34860047	chr8:78542328-78542329	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs538428285	chr8:78542374-78542375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs112233579	chr8:78542375-78542376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs373610624	chr8:78542398-78542399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs574579320	chr8:78542409-78542410	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs1510116	chr8:78542439-78542440	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs182440601	chr8:78542442-78542443	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs543847628	chr8:78542488-78542489	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:105)

Disease	PMID	Source
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
Seminomas	18059402	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	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
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
Cancer	16751803	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
Chronic lymphocytic leukemia	21546498	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
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
Sezary syndrome	18413736	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Colorectal cancer	19455253	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Schizophrenia	23813976	CNVD
Breast cancer	21785460	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:175 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:78541400-78541600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:78541600-78547000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:78545400-78547200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr8:78545600-78546600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr8:78546000-78548000	Enhancers	HMEC	breast
6	chr8:78546200-78547000	Enhancers	NHEK	skin
7	chr8:78546400-78546600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:78546400-78547200	Enhancers	Breast Myoepithelial Primary Cells	Breast
9	chr8:78547000-78547200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:78547200-78547400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr8:78547200-78547800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:78547800-78548000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr8:78551600-78552600	Enhancers	Colon Smooth Muscle	Colon
14	chr8:78552600-78554000	Weak transcription	Colon Smooth Muscle	Colon
15	chr8:78554200-78554400	Enhancers	Colon Smooth Muscle	Colon
16	chr8:78560600-78563200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:78560800-78563200	Enhancers	HMEC	breast
18	chr8:78561000-78561800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:78561000-78563600	Enhancers	NHEK	skin
20	chr8:78561200-78561400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:78561600-78562600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr8:78561600-78563200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:78561800-78562200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:78562200-78562800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr8:78562600-78563000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr8:78563200-78567800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:78564000-78564400	Enhancers	iPS-18 Cell Line	embryonic stem cell
28	chr8:78564000-78565000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr8:78564000-78565000	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr8:78564000-78566200	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr8:78564200-78565000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr8:78565000-78565400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:78565000-78565800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr8:78565400-78566200	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr8:78565800-78566000	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr8:78566000-78566200	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr8:78567800-78568400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr8:78568400-78570600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr8:78587400-78587800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr8:78587800-78588200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr8:78595000-78596800	Enhancers	Fetal Stomach	stomach
42	chr8:78618600-78619200	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr8:78618800-78619000	Enhancers	HUES48 Cell Line	embryonic stem cell
44	chr8:78618800-78619000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr8:78619000-78620000	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr8:78619200-78620400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr8:78619600-78620600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr8:78619800-78621400	Enhancers	iPS-18 Cell Line	embryonic stem cell
49	chr8:78620000-78620600	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr8:78620000-78621400	Enhancers	HUES48 Cell Line	embryonic stem cell

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