Variant report

Variant	nsv524089
Chromosome Location	chr8:113761143-113852777
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:113773910..113774788-chr8:114210759..114211408,2	MCF-7	breast:
2	chr8:113773909..113774597-chr8:114183855..114184506,4	MCF-7	breast:
3	chr8:113813041..113814009-chr8:114183692..114184450,5	MCF-7	breast:
4	chr8:113812932..113813631-chr8:114183972..114184626,2	MCF-7	breast:
5	chr8:113774348..113777140-chr8:114064225..114066718,2	K562	blood:
6	chr8:113774045..113774707-chr8:114449888..114450422,3	MCF-7	breast:
7	chr8:113774024..113774627-chr8:114390471..114391174,2	MCF-7	breast:
8	chr8:113812991..113814473-chr8:114449636..114450437,5	MCF-7	breast:

No data

Extended variants
information (count: 1826 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1826 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192918121	chr8:113762651-113762652	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111513348	chr8:113762688-113762689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs551997794	chr8:113762705-113762706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571824479	chr8:113762730-113762731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs530956851	chr8:113762762-113762763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs537782263	chr8:113762800-113762801	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs207469734	chr8:113762837-113762838	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs146229180	chr8:113762843-113762844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573667658	chr8:113762845-113762846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs184960306	chr8:113762868-113762869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374847147	chr8:113762913-113762914	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs543873284	chr8:113762926-113762927	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs553043606	chr8:113762928-113762929	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs369245973	chr8:113762949-113762950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs544857105	chr8:113763012-113763013	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs550778659	chr8:113763102-113763103	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565123606	chr8:113763174-113763175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575366424	chr8:113763205-113763206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs76686245	chr8:113763270-113763271	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs201555484	chr8:113763304-113763305	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs74860196	chr8:113763314-113763315	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs398009428	chr8:113763315-113763316	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs201092737	chr8:113763316-113763317	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs529674243	chr8:113763414-113763415	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs143858651	chr8:113763432-113763433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs560286245	chr8:113763529-113763530	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs532260329	chr8:113763597-113763598	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs146161501	chr8:113765605-113765606	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs550920250	chr8:113765624-113765625	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs188645379	chr8:113765648-113765649	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs16884056	chr8:113765693-113765694	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs538375425	chr8:113765769-113765770	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs555116025	chr8:113765796-113765797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs568231106	chr8:113765835-113765836	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs191727017	chr8:113765943-113765944	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs139798020	chr8:113766018-113766019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs577100332	chr8:113766029-113766030	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs564436425	chr8:113766067-113766068	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs143182605	chr8:113766068-113766069	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs576006574	chr8:113766109-113766110	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs541498375	chr8:113766123-113766124	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs573108574	chr8:113766155-113766156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374607845	chr8:113766156-113766157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182456077	chr8:113766189-113766190	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs34515262	chr8:113766209-113766210	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376064608	chr8:113766210-113766211	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375864276	chr8:113766211-113766212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs397696597	chr8:113766213-113766214	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs540466731	chr8:113766252-113766253	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs560836761	chr8:113766273-113766274	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	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
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
Glioblastoma multiforme	21080181	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Sezary syndrome	18413736	CNVD
Breast cancer	21611746	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21364760	CNVD
Neuroticism	17667963	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Schizophrenia	20967226	CNVD
Prostate cancer	22341455	CNVD
Colorectal cancer	21645411	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:203 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:113762600-113763200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr8:113762600-113763400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:113762800-113763600	Enhancers	HMEC	breast
4	chr8:113765600-113766600	Enhancers	Cortex derived primary cultured neurospheres	brain
5	chr8:113765800-113767000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:113766200-113767000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr8:113772200-113773400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr8:113772800-113773000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
9	chr8:113772800-113773200	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr8:113772800-113773200	Enhancers	iPS-20b Cell Line	embryonic stem cell
11	chr8:113772800-113773400	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr8:113772800-113774200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr8:113772800-113774200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr8:113773000-113773400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:113773000-113773600	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr8:113773200-113774400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr8:113773200-113783400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr8:113773400-113783400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr8:113773600-113783400	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr8:113774200-113783400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr8:113774400-113775000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr8:113778800-113779200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr8:113779000-113779200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:113779200-113783800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr8:113783400-113783600	Enhancers	H1 Cell Line	embryonic stem cell
26	chr8:113783400-113784000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
27	chr8:113783400-113784200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr8:113783400-113784400	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr8:113783400-113784400	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr8:113783400-113785400	Enhancers	iPS-18 Cell Line	embryonic stem cell
31	chr8:113783400-113788400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr8:113783800-113784200	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr8:113783800-113785200	Weak transcription	H1 Cell Line	embryonic stem cell
34	chr8:113784000-113784800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr8:113784200-113784400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr8:113784200-113784600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr8:113784200-113786400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr8:113784400-113784800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr8:113784400-113784800	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr8:113784400-113784800	Active TSS	HUES64 Cell Line	embryonic stem cell
41	chr8:113784600-113785200	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr8:113784800-113785200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr8:113784800-113785400	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr8:113784800-113787000	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr8:113784800-113787200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr8:113785200-113785400	Enhancers	H1 Cell Line	embryonic stem cell
47	chr8:113785200-113785400	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr8:113785200-113785600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr8:113785400-113785600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr8:113785400-113785600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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