Variant report

Variant	nsv824684
Chromosome Location	chr8:86539617-86554047
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:86374283..86376503-chr8:86538225..86540669,2	MCF-7	breast:
2	chr8:86375424..86377352-chr8:86545353..86547430,2	MCF-7	breast:
3	chr22:21257752..21260264-chr8:86546631..86548915,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253549	chromatin interactions
ENSG00000104267	chromatin interactions

Extended variants
information (count: 478 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:478 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs80347166	chr8:86539619-86539620	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs115343214	chr8:86539694-86539695	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs534668738	chr8:86539741-86539742	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs192789101	chr8:86539774-86539775	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs184729986	chr8:86539801-86539802	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs532640439	chr8:86539820-86539821	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs536959676	chr8:86539821-86539822	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs556878549	chr8:86539830-86539831	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs112597843	chr8:86539867-86539868	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs553016617	chr8:86539868-86539869	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs145651646	chr8:86539914-86539915	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs544990576	chr8:86539950-86539951	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs148095237	chr8:86540045-86540046	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs533624374	chr8:86540077-86540078	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs79067964	chr8:86540103-86540104	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs538591480	chr8:86540126-86540127	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs563856799	chr8:86540169-86540170	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs529477215	chr8:86540184-86540185	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs549329126	chr8:86540188-86540189	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs141780417	chr8:86540221-86540222	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs568609184	chr8:86540229-86540230	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs528999801	chr8:86540252-86540253	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs551322155	chr8:86540257-86540258	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs150178625	chr8:86540278-86540279	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs537094045	chr8:86540283-86540284	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs7837781	chr8:86540299-86540300	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs138558040	chr8:86540316-86540317	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs536411159	chr8:86540334-86540335	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs189196182	chr8:86540374-86540375	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs142809044	chr8:86540385-86540386	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs539437053	chr8:86540408-86540409	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs78608089	chr8:86540417-86540418	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs566639003	chr8:86540422-86540423	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs147369133	chr8:86540446-86540447	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs555294691	chr8:86540489-86540490	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs573456025	chr8:86540581-86540582	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs575293219	chr8:86540596-86540597	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs544261774	chr8:86540612-86540613	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs563977183	chr8:86540741-86540742	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs574276916	chr8:86540743-86540744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs139579992	chr8:86540824-86540825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs559707332	chr8:86540846-86540847	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528702976	chr8:86540889-86540890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551459049	chr8:86540892-86540893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs565065363	chr8:86540952-86540953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs180754514	chr8:86540978-86540979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184757331	chr8:86540984-86540985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs557027865	chr8:86540987-86540988	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575283499	chr8:86541053-86541054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs567524001	chr8:86541057-86541058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:104)

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
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
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
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
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
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute monocytic leukemia	16498392	CNVD
Autism	20841430	CNVD
Colorectal cancer	21645411	CNVD
Breast cancer	21364760	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:86538000-86539800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr8:86538200-86539800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:86539200-86541400	Weak transcription	Fetal Lung	lung
4	chr8:86539800-86544000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr8:86541400-86544400	Enhancers	Fetal Lung	lung
6	chr8:86543400-86544400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:86543400-86544600	Enhancers	Brain Anterior Caudate	brain
8	chr8:86543600-86543800	Enhancers	Brain Hippocampus Middle	brain
9	chr8:86543600-86544400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr8:86543600-86544600	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr8:86543600-86547000	Enhancers	NHEK	skin
12	chr8:86544000-86544600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:86544000-86545400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:86544000-86545600	Enhancers	HMEC	breast
15	chr8:86544200-86544600	Active TSS	Hela-S3	cervix
16	chr8:86544200-86545200	Active TSS	Duodenum Mucosa	Duodenum
17	chr8:86544400-86545200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr8:86544400-86545200	Enhancers	Fetal Intestine Large	intestine
19	chr8:86544800-86545000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr8:86544800-86545400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr8:86545000-86545400	Enhancers	Fetal Intestine Small	intestine
22	chr8:86545200-86545800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:86545400-86546600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr8:86545400-86546800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:86545600-86547000	Weak transcription	HMEC	breast
26	chr8:86545800-86546800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr8:86546600-86548800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr8:86546800-86548600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr8:86546800-86548600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:86547000-86548600	Flanking Active TSS	NHEK	skin
31	chr8:86547000-86549000	Enhancers	HMEC	breast
32	chr8:86548200-86548400	Enhancers	Stomach Mucosa	stomach
33	chr8:86548600-86548800	Enhancers	NHEK	skin
34	chr8:86548600-86549800	Weak transcription	Stomach Mucosa	stomach
35	chr8:86548800-86552800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr8:86549800-86550600	Enhancers	Stomach Mucosa	stomach
37	chr8:86552800-86553000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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