Variant report

Variant	nsv528130
Chromosome Location	chr6:45056086-45083966
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:45071425..45074350-chr6:45080859..45082948,2	MCF-7	breast:
2	chr6:45083331..45086142-chr6:45155794..45158780,2	K562	blood:
3	chr6:45061664..45064501-chr6:45066770..45068668,2	K562	blood:
4	chr6:45071425..45074350-chr6:45080859..45082948,2	MCF-7	breast:
5	chr6:45061664..45064501-chr6:45066770..45068668,2	K562	blood:

Extended variants
information (count: 828 )
Associated
traits (count: 99 )

Variant overlapped rSNPs/rCNVs (count:828 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549283480	chr6:45057205-45057206	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs528790857	chr6:45057219-45057220	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs546876431	chr6:45057226-45057227	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs533633238	chr6:45057257-45057258	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559553188	chr6:45057323-45057324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs372250088	chr6:45057421-45057422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs397790733	chr6:45057430-45057431	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs200138645	chr6:45057431-45057432	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs7767998	chr6:45057464-45057465	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs538848403	chr6:45057481-45057482	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs192156250	chr6:45057483-45057484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs7747774	chr6:45057487-45057488	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs558107954	chr6:45057494-45057495	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183231626	chr6:45057523-45057524	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs7768281	chr6:45057603-45057604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs187990982	chr6:45057637-45057638	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs115725070	chr6:45057650-45057651	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191351918	chr6:45057655-45057656	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534956811	chr6:45057657-45057658	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs553301931	chr6:45057668-45057669	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577964508	chr6:45057682-45057683	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs73737879	chr6:45057705-45057706	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs79257091	chr6:45057714-45057715	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7748428	chr6:45057779-45057780	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs16873119	chr6:45057802-45057803	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs575717548	chr6:45057832-45057833	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534316653	chr6:45057846-45057847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184624088	chr6:45057867-45057868	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs561371412	chr6:45057877-45057878	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs540172982	chr6:45057887-45057888	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs7752598	chr6:45057905-45057906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs9472437	chr6:45057915-45057916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs147823731	chr6:45057916-45057917	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs148440206	chr6:45057970-45057971	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs532631520	chr6:45057974-45057975	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs560795411	chr6:45062607-45062608	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs572016931	chr6:45062618-45062619	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs531300255	chr6:45062620-45062621	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs146662181	chr6:45062666-45062667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs564103579	chr6:45062681-45062682	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs73737883	chr6:45062735-45062736	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs571136532	chr6:45062882-45062883	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543485805	chr6:45062940-45062941	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs561790857	chr6:45063007-45063008	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs79020969	chr6:45063021-45063022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs548020493	chr6:45063060-45063061	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs188628387	chr6:45063144-45063145	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs533674255	chr6:45063147-45063148	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs551828242	chr6:45063180-45063181	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs67357594	chr6:45063197-45063198	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:99)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Osteosarcoma	16790693	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16790693	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Systemic lupus erythematosus	19287148	CNVD
Colorectal cancer	19359472	CNVD
Multiple myeloma	16616336	CNVD
Chordoma	18071362	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Myelofibrosis	22110671	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Ovarian cancer	20844748	CNVD
lymphocytic leukemia	21291569	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Bipolar disorder	19114987	CNVD
Schizophrenia	23813976	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:45057200-45057600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr6:45057400-45057800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr6:45057600-45058000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr6:45062600-45063200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:45063800-45068000	Weak transcription	Aorta	Aorta
6	chr6:45064200-45076000	Weak transcription	Dnd41	blood
7	chr6:45064600-45071000	Weak transcription	Lung	lung
8	chr6:45065200-45067800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr6:45065800-45066400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr6:45071000-45077800	Weak transcription	HSMM	muscle
11	chr6:45072600-45073800	Enhancers	Osteobl	bone
12	chr6:45072600-45074000	Enhancers	Muscle Satellite Cultured Cells	--
13	chr6:45073000-45073200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr6:45073000-45073800	Enhancers	NHDF-Ad	bronchial
15	chr6:45073200-45073600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr6:45073200-45076400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:45073400-45083600	Weak transcription	Pancreas	Pancrea
18	chr6:45074000-45074200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr6:45076000-45076600	Enhancers	Dnd41	blood
20	chr6:45076000-45077000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr6:45076200-45076400	Enhancers	Primary T cells from cord blood	blood
22	chr6:45076400-45076600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:45076400-45077400	Weak transcription	Primary T cells from cord blood	blood
24	chr6:45076600-45077000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:45076600-45082800	Weak transcription	Dnd41	blood
26	chr6:45077000-45077400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr6:45077000-45077800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:45077400-45077800	Enhancers	Primary T cells from cord blood	blood
29	chr6:45077400-45078000	Enhancers	Primary T helper cells fromperipheralblood	blood
30	chr6:45077400-45078000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr6:45077600-45078400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr6:45077800-45078400	Enhancers	HSMM	muscle
33	chr6:45077800-45078800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr6:45077800-45083400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr6:45078400-45079600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr6:45078400-45083400	Weak transcription	HSMM	muscle
37	chr6:45078600-45080000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr6:45078800-45079400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr6:45079400-45079600	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr6:45079400-45079800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr6:45079600-45079800	Enhancers	iPS-15b Cell Line	embryonic stem cell
42	chr6:45079800-45080200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr6:45080200-45080600	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr6:45080200-45081200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:45081000-45081200	Enhancers	Fetal Heart	heart
46	chr6:45081200-45083200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr6:45081600-45084200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr6:45082400-45083000	Enhancers	HepG2	liver
49	chr6:45082400-45085600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr6:45082800-45085200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin

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