Variant report

Variant	nsv891287
Chromosome Location	chr8:111201440-111272070
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:111246550..111249022-chr8:111251445..111253092,2	MCF-7	breast:
2	chr8:111213386..111215697-chr8:111216006..111218910,2	MCF-7	breast:
3	chr8:111246550..111249022-chr8:111251445..111253092,2	MCF-7	breast:
4	chr8:100177691..100178432-chr8:111254768..111255288,2	MCF-7	breast:
5	chr8:111213386..111215697-chr8:111216006..111218910,2	MCF-7	breast:

Extended variants
information (count: 1889 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:1889 , 50 per page) page: 1 2 3 4 5 6 7 ... 38

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7002015	chr8:111201440-111201441	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs533849131	chr8:111201444-111201445	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs573614857	chr8:111201484-111201485	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs535883588	chr8:111201518-111201519	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs553600921	chr8:111201519-111201520	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs573459410	chr8:111201531-111201532	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs545154645	chr8:111201532-111201533	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs73308930	chr8:111201539-111201540	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs148815354	chr8:111201545-111201546	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs574925749	chr8:111201587-111201588	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs141338216	chr8:111201593-111201594	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs544330049	chr8:111201628-111201629	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs35862876	chr8:111201643-111201644	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs560933351	chr8:111201653-111201654	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs530072092	chr8:111201659-111201660	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs546701764	chr8:111201665-111201666	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559553181	chr8:111201675-111201676	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs528385292	chr8:111201699-111201700	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551599235	chr8:111201704-111201705	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564033250	chr8:111201743-111201744	ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs554975278	chr8:111201854-111201855	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs571493874	chr8:111201871-111201872	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs530605850	chr8:111201903-111201904	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs550660622	chr8:111202037-111202038	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs7844664	chr8:111202087-111202088	ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs183159247	chr8:111202105-111202106	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs552700797	chr8:111202152-111202153	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs556000438	chr8:111212407-111212408	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs569520243	chr8:111212416-111212417	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558738775	chr8:111212421-111212422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376180901	chr8:111212422-111212423	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs575963622	chr8:111212436-111212437	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs376556671	chr8:111212499-111212500	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs573970551	chr8:111212504-111212505	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs541460736	chr8:111212575-111212576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs78197255	chr8:111212582-111212583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs562325436	chr8:111212622-111212623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs114076098	chr8:111212626-111212627	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs541638652	chr8:111212705-111212706	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs552139923	chr8:111212736-111212737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs112796828	chr8:111212758-111212759	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs61059528	chr8:111212799-111212800	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs567133411	chr8:111212804-111212805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs564699448	chr8:111212813-111212814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs147944053	chr8:111212893-111212894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs34192679	chr8:111212910-111212911	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569407112	chr8:111212947-111212948	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs200016872	chr8:111214605-111214606	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs535877969	chr8:111214606-111214607	Bivalent/Poised TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs550051237	chr8:111214644-111214645	Bivalent/Poised TSS	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
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
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
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
Barrett''s adenocarcinoma	18663352	CNVD
Breast cancer	21364760	CNVD
Renal cell carcinoma	21215367	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111201400-111202200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr8:111201600-111201800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:111201600-111202200	ZNF genes & repeats	Pancreas	Pancrea
4	chr8:111212400-111213000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:111214600-111215600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
6	chr8:111214800-111215400	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr8:111214800-111215600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:111215200-111215400	Enhancers	Fetal Muscle Trunk	muscle
9	chr8:111220800-111221400	Enhancers	HMEC	breast
10	chr8:111220800-111221400	Enhancers	NHEK	skin
11	chr8:111221200-111221400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:111221200-111221400	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:111221200-111223400	Enhancers	Fetal Heart	heart
14	chr8:111221400-111221800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:111221400-111222200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:111221400-111222600	Weak transcription	HMEC	breast
17	chr8:111221400-111223000	Weak transcription	NHEK	skin
18	chr8:111221800-111222800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr8:111222200-111222600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr8:111222600-111223800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr8:111222600-111224000	Enhancers	HMEC	breast
22	chr8:111222800-111223000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr8:111223000-111223600	Enhancers	NHEK	skin
24	chr8:111223800-111225200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr8:111225200-111225600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr8:111225600-111256400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr8:111226000-111226400	Active TSS	Right Atrium	heart
28	chr8:111229800-111231800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr8:111230000-111231000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr8:111230600-111231000	Enhancers	HMEC	breast
31	chr8:111237800-111238200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:111240400-111241400	Enhancers	Primary B cells from peripheral blood	blood
33	chr8:111256400-111258200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:111258200-111273000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr8:111268400-111268600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr8:111268600-111270000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr8:111270000-111270400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:111270000-111270600	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr8:111272000-111272200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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