Variant report

Variant	nsv891177
Chromosome Location	chr8:89941889-90166429
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:27)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:27 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:90082329..90084516-chr8:90097309..90099029,2	K562	blood:
2	chr8:90082329..90084516-chr8:90097309..90099029,2	K562	blood:
3	chr8:90067759..90070012-chr8:90070628..90073567,2	MCF-7	breast:
4	chr8:89983917..89985937-chr8:89988632..89991497,2	MCF-7	breast:
5	chr8:90130870..90133130-chr8:90133939..90135476,2	MCF-7	breast:
6	chr8:89991753..89993924-chr8:90002901..90005604,2	MCF-7	breast:
7	chr8:90084020..90084547-chr8:90629249..90629749,2	MCF-7	breast:
8	chr8:90014072..90014862-chr8:111171720..111172332,2	MCF-7	breast:
9	chr8:90130870..90133130-chr8:90133939..90135476,2	MCF-7	breast:
10	chr8:90010838..90012467-chr8:90027284..90029768,2	MCF-7	breast:
11	chr8:90120174..90121731-chr8:90128653..90130886,2	MCF-7	breast:
12	chr8:89993652..89996623-chr8:90001684..90003388,2	MCF-7	breast:
13	chr8:90010838..90012467-chr8:90027284..90029768,2	MCF-7	breast:
14	chr8:90092575..90095200-chr8:90099585..90102136,2	MCF-7	breast:
15	chr8:90092575..90095200-chr8:90099585..90102136,2	MCF-7	breast:
16	chr8:89993652..89996623-chr8:90001684..90003388,2	MCF-7	breast:
17	chr5:134900665..134901406-chr8:90016865..90017446,2	MCF-7	breast:
18	chr8:90067439..90070191-chr8:90075999..90077616,2	MCF-7	breast:
19	chr8:89983917..89985937-chr8:89988632..89991497,2	MCF-7	breast:
20	chr17:66790796..66791327-chr8:90031920..90032588,2	MCF-7	breast:
21	chr8:90074965..90076573-chr8:102340913..102342555,2	MCF-7	breast:
22	chr8:89991753..89993924-chr8:90002901..90005604,2	MCF-7	breast:
23	chr8:89981805..89984539-chr8:89992447..89994087,2	MCF-7	breast:
24	chr8:89981805..89984539-chr8:89992447..89994087,2	MCF-7	breast:
25	chr8:90067759..90070012-chr8:90070628..90073567,2	MCF-7	breast:
26	chr8:90120174..90121731-chr8:90128653..90130886,2	MCF-7	breast:
27	chr8:90067439..90070191-chr8:90075999..90077616,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000251136	chromatin interactions

Extended variants
information (count: 5176 )
Associated
traits (count: 110 )

Variant overlapped rSNPs/rCNVs (count:5176 , 50 per page) page: 1 2 3 4 5 6 7 ... 104

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs13439196	chr8:89941889-89941890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs367588115	chr8:89941892-89941893	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs531589022	chr8:89941919-89941920	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs543449039	chr8:89941921-89941922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs564833146	chr8:89941928-89941929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs532252152	chr8:89941941-89941942	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34618605	chr8:89941946-89941947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs547151778	chr8:89941951-89941952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201360089	chr8:89941952-89941953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141828959	chr8:89941978-89941979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556323923	chr8:89942005-89942006	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs76450587	chr8:89942020-89942021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs182602930	chr8:89942021-89942022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs554401097	chr8:89942031-89942032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs147228381	chr8:89942034-89942035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558550625	chr8:89942085-89942086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs570492447	chr8:89942117-89942118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs186967341	chr8:89942123-89942124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4961106	chr8:89942129-89942130	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs75831923	chr8:89942142-89942143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs542460064	chr8:89942162-89942163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs554762099	chr8:89942192-89942193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs375104207	chr8:89942206-89942207	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs200041538	chr8:89942216-89942217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs576417875	chr8:89942245-89942246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs543710067	chr8:89942256-89942257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs564899719	chr8:89942266-89942267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs199980498	chr8:89942268-89942269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs372190120	chr8:89942269-89942270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs541170363	chr8:89942296-89942297	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs191807881	chr8:89942301-89942302	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs575597333	chr8:89942305-89942306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529757623	chr8:89942334-89942335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs548390823	chr8:89942428-89942429	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs184286852	chr8:89942526-89942527	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs548144828	chr8:89942541-89942542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs561842889	chr8:89942573-89942574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188814205	chr8:89942588-89942589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs543001784	chr8:89942591-89942592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552437618	chr8:89942630-89942631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62534065	chr8:89942645-89942646	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570864600	chr8:89942651-89942652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs147406116	chr8:89942652-89942653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs139127196	chr8:89942702-89942703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs568469708	chr8:89942742-89942743	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112653923	chr8:89942789-89942790	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs554823502	chr8:89942856-89942857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs192952425	chr8:89942879-89942880	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs13238273	chr8:89942900-89942901	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs143948484	chr8:89942908-89942909	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:110)

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
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
Breast cancer	20409316	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Breast cancer	21611746	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Schizophrenia	23813976	CNVD
Bipolar disorder	19114987	CNVD
Renal cell carcinoma	21215367	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:225 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:89939000-89953800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr8:89951000-89951800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr8:89951200-89952400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr8:89951400-89955000	Enhancers	Muscle Satellite Cultured Cells	--
5	chr8:89951800-89952200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr8:89951800-89953000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:89951800-89953000	Enhancers	NHDF-Ad	bronchial
8	chr8:89951800-89954800	Enhancers	Osteobl	bone
9	chr8:89951800-89955000	Enhancers	Hela-S3	cervix
10	chr8:89952000-89952400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr8:89952000-89952400	Enhancers	NH-A	brain
12	chr8:89952200-89952400	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr8:89952200-89952800	Enhancers	HMEC	breast
14	chr8:89952200-89953000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr8:89952400-89952600	Weak transcription	NH-A	brain
16	chr8:89952400-89952800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr8:89952600-89953000	Enhancers	NH-A	brain
18	chr8:89952600-89953800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr8:89952800-89953000	Enhancers	HSMM	muscle
20	chr8:89952800-89954200	Weak transcription	HMEC	breast
21	chr8:89952800-89955000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr8:89953000-89953400	Weak transcription	NHDF-Ad	bronchial
23	chr8:89953000-89953600	Weak transcription	HSMM	muscle
24	chr8:89953000-89954000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr8:89953000-89954200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:89953000-89954200	Weak transcription	NH-A	brain
27	chr8:89953400-89954600	Enhancers	NHDF-Ad	bronchial
28	chr8:89953600-89954400	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr8:89953600-89954600	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr8:89953600-89955000	Enhancers	HSMM	muscle
31	chr8:89953800-89954400	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr8:89953800-89954600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr8:89953800-89954800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:89953800-89955000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:89954000-89954600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr8:89954000-89954600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr8:89954000-89955400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr8:89954200-89954600	Enhancers	Brain Angular Gyrus	brain
39	chr8:89954200-89954800	Enhancers	HMEC	breast
40	chr8:89954200-89955000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr8:89954400-89954600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr8:89954600-89954800	Enhancers	NH-A	brain
43	chr8:89954800-89956400	Weak transcription	HMEC	breast
44	chr8:89955000-89956400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:89955000-89956400	Weak transcription	Hela-S3	cervix
46	chr8:89956400-89956600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr8:89956400-89957000	Enhancers	HMEC	breast
48	chr8:89956400-89957200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr8:89956400-89957200	Enhancers	Hela-S3	cervix
50	chr8:89956600-89956800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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