Variant report

Variant	nsv6350
Chromosome Location	chr8:112864932-112909643
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:26214142..26215773-chr8:112896843..112899051,2	MCF-7	breast:
2	chr8:112877538..112880401-chr8:112881600..112883445,2	K562	blood:
3	chr8:112877538..112880401-chr8:112881600..112883445,2	K562	blood:
4	chr8:112870353..112871084-chr8:112943233..112944215,2	MCF-7	breast:
5	chr11:61100776..61103699-chr8:112876194..112878368,2	MCF-7	breast:
6	chr8:112878252..112879995-chr8:113601916..113604196,2	MCF-7	breast:
7	chr17:56736027..56736822-chr8:112887594..112888361,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000202077	chromatin interactions
ENSG00000149476	chromatin interactions
ENSG00000167986	chromatin interactions

Extended variants
information (count: 518 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:518 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548163210	chr8:112870404-112870405	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs546976654	chr8:112870405-112870406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs371915782	chr8:112870418-112870419	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs555242977	chr8:112870482-112870483	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs561384067	chr8:112870528-112870529	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs564623897	chr8:112872610-112872611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs145679435	chr8:112872654-112872655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs147741316	chr8:112872655-112872656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs190720659	chr8:112872674-112872675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576562182	chr8:112872703-112872704	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs182147140	chr8:112872705-112872706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs547474937	chr8:112872750-112872751	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs559060580	chr8:112872753-112872754	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs545579206	chr8:112872821-112872822	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534910275	chr8:112872833-112872834	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs320565	chr8:112872841-112872842	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs577678396	chr8:112872843-112872844	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536598812	chr8:112872849-112872850	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs185790027	chr8:112872880-112872881	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs190064467	chr8:112872921-112872922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs369924539	chr8:112872933-112872934	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs79858240	chr8:112872938-112872939	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs183072257	chr8:112872949-112872950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs75484170	chr8:112872958-112872959	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs73324345	chr8:112872999-112873000	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs540653595	chr8:112873036-112873037	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373545239	chr8:112873055-112873056	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs533468270	chr8:112873075-112873076	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs188350429	chr8:112873079-112873080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs563742615	chr8:112873082-112873083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs193302253	chr8:112873091-112873092	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs549238416	chr8:112873105-112873106	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs566049278	chr8:112873165-112873166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs371616041	chr8:112873174-112873175	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs183795834	chr8:112873175-112873176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs571253546	chr8:112873184-112873185	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs537193232	chr8:112873186-112873187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs62520437	chr8:112873245-112873246	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs35201607	chr8:112873262-112873263	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs567296176	chr8:112873295-112873296	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs75020663	chr8:112873298-112873299	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs141058734	chr8:112873320-112873321	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs573181698	chr8:112873326-112873327	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113983431	chr8:112873369-112873370	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs374097004	chr8:112873386-112873387	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs538728437	chr8:112873387-112873388	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs10111247	chr8:112873395-112873396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs544828554	chr8:112873437-112873438	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs187991447	chr8:112873461-112873462	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs74809147	chr8:112873480-112873481	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:112870400-112870600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:112872600-112873000	Enhancers	Adipose Nuclei	Adipose
3	chr8:112872800-112873200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:112872800-112873200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:112872800-112873400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:112873000-112873600	Enhancers	Colon Smooth Muscle	Colon
7	chr8:112879400-112879600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr8:112900000-112900200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr8:112900200-112900800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:112900800-112901800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr8:112901000-112901600	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr8:112901600-112906600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr8:112901800-112907200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr8:112905800-112907800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr8:112906200-112907000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr8:112906600-112907600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr8:112906600-112907600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr8:112906600-112907600	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr8:112907200-112909200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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