Variant report

Variant	nsv1031156
Chromosome Location	chr8:115551507-115620846
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:115558949..115561292-chr8:115562561..115565176,2	MCF-7	breast:
2	chr8:115561374..115563425-chr8:115568053..115569628,2	MCF-7	breast:
3	chr8:115541858..115544753-chr8:115552271..115555255,2	K562	blood:
4	chr8:115598053..115599853-chr8:115604312..115606791,3	MCF-7	breast:
5	chr1:117900151..117901737-chr8:115598411..115599914,2	MCF-7	breast:
6	chr8:115598053..115599853-chr8:115604312..115606791,3	MCF-7	breast:
7	chr8:115561374..115563425-chr8:115568053..115569628,2	MCF-7	breast:
8	chr8:115558949..115561292-chr8:115562561..115565176,2	MCF-7	breast:
9	chr8:115611607..115613247-chr8:115625084..115626919,2	K562	blood:

No data

Extended variants
information (count: 904 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:904 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs17644578	chr8:115551507-115551508	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs145078314	chr8:115551523-115551524	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs373694929	chr8:115551551-115551552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200503986	chr8:115551555-115551556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs386728978	chr8:115551556-115551557	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113177485	chr8:115551559-115551560	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs201716472	chr8:115551562-115551563	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs73360749	chr8:115551565-115551566	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs117694107	chr8:115551566-115551567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs555754164	chr8:115551575-115551576	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs73360752	chr8:115551577-115551578	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs572297223	chr8:115551626-115551627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs66671867	chr8:115551654-115551655	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs182118076	chr8:115551655-115551656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs386728979	chr8:115551670-115551671	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs72688122	chr8:115551671-115551672	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs564135783	chr8:115551721-115551722	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs575914646	chr8:115551777-115551778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs7841042	chr8:115551815-115551816	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs376863876	chr8:115551820-115551821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs7818847	chr8:115551857-115551858	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs386728980	chr8:115551897-115551898	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs11995837	chr8:115551901-115551902	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs114800766	chr8:115551933-115551934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs11988713	chr8:115551952-115551953	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs557749093	chr8:115552022-115552023	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs375395717	chr8:115552064-115552065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs566613972	chr8:115552108-115552109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs34155066	chr8:115552137-115552138	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs578086695	chr8:115552138-115552139	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs563192430	chr8:115552139-115552140	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs542239616	chr8:115552149-115552150	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs550354719	chr8:115552152-115552153	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs201017620	chr8:115552153-115552154	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535919731	chr8:115552154-115552155	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201875503	chr8:115552155-115552156	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs199912307	chr8:115552156-115552157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs554497413	chr8:115552168-115552169	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs186262248	chr8:115552169-115552170	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs555537387	chr8:115552175-115552176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs145808647	chr8:115552230-115552231	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs148993150	chr8:115552289-115552290	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs74962504	chr8:115552295-115552296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs191605460	chr8:115552307-115552308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs182168187	chr8:115552330-115552331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs12541664	chr8:115552338-115552339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs146625775	chr8:115552356-115552357	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs141451180	chr8:115552358-115552359	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs76287408	chr8:115552378-115552379	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs561636883	chr8:115552379-115552380	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
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

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:115549600-115552600	Enhancers	Muscle Satellite Cultured Cells	--
2	chr8:115549800-115552000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:115550600-115551600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr8:115550600-115552600	Enhancers	Hela-S3	cervix
5	chr8:115551600-115552000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:115551600-115552600	Enhancers	HUVEC	blood vessel
7	chr8:115559400-115559800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr8:115559600-115560000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:115559600-115560000	Enhancers	H9 Cell Line	embryonic stem cell
10	chr8:115559800-115564200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr8:115563800-115568000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr8:115564000-115564600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr8:115564200-115564400	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr8:115564200-115564800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr8:115564400-115565400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr8:115564600-115565000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:115564600-115566200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr8:115564800-115565200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr8:115564800-115565800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr8:115565000-115566000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:115565000-115567000	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr8:115565000-115567000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr8:115565200-115565800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr8:115565200-115565800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr8:115565200-115566000	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr8:115565200-115567000	Enhancers	Dnd41	blood
27	chr8:115565200-115567200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:115565400-115565800	Enhancers	ES-I3 Cell Line	embryonic stem cell
29	chr8:115565400-115566000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:115565400-115566000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr8:115565800-115566800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr8:115565800-115566800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr8:115566200-115566600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr8:115566600-115567000	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr8:115566800-115567000	Enhancers	H1 Cell Line	embryonic stem cell
36	chr8:115566800-115567000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:115568000-115568200	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr8:115577400-115578200	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr8:115579800-115581600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr8:115581600-115581800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr8:115582400-115582800	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr8:115582400-115582800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
43	chr8:115582600-115583000	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr8:115584600-115584800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr8:115591800-115592200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:115591800-115592400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:115597600-115599200	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr8:115597600-115599600	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr8:115597800-115598000	Enhancers	H1 Cell Line	embryonic stem cell
50	chr8:115597800-115598200	Enhancers	HUES48 Cell Line	embryonic stem cell

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