Variant report

Variant	nsv1019469
Chromosome Location	chr6:74644208-74702416
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:74564592..74565216-chr6:74679361..74679928,2	MCF-7	breast:
2	chr6:74676262..74678006-chr6:74678035..74679663,2	MCF-7	breast:
3	chr6:74679477..74680332-chr6:75914060..75914724,3	MCF-7	breast:
4	chr6:74679584..74680329-chr6:75284218..75285177,4	MCF-7	breast:
5	chr6:74676262..74678006-chr6:74678035..74679663,2	MCF-7	breast:
6	chr6:74639600..74641277-chr6:74641826..74644463,2	K562	blood:
7	chr6:74654318..74655307-chrX:136670826..136671580,2	MCF-7	breast:

Extended variants
information (count: 1445 )
Associated
traits (count: 97 )

Variant overlapped rSNPs/rCNVs (count:1445 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs551893462	chr6:74644232-74644233	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs553323276	chr6:74644242-74644243	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs187829481	chr6:74644251-74644252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs539779752	chr6:74644294-74644295	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs192123823	chr6:74644316-74644317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs76129176	chr6:74644325-74644326	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35794650	chr6:74644327-74644328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs76188451	chr6:74644328-74644329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs79659370	chr6:74644330-74644331	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs77589576	chr6:74644341-74644342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs183972516	chr6:74644396-74644397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs543987773	chr6:74644451-74644452	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187635761	chr6:74644452-74644453	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs574150285	chr6:74644470-74644471	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs541461320	chr6:74644479-74644480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs77089208	chr6:74644503-74644504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533349483	chr6:74644529-74644530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs552232699	chr6:74644530-74644531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535235288	chr6:74644533-74644534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564357063	chr6:74644596-74644597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs192227341	chr6:74644605-74644606	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs111225964	chr6:74644635-74644636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567835980	chr6:74644662-74644663	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs182941162	chr6:74644664-74644665	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547075300	chr6:74644666-74644667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs565581178	chr6:74644680-74644681	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs4708104	chr6:74644705-74644706	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs187192638	chr6:74644740-74644741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs570291167	chr6:74644787-74644788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537659669	chr6:74644792-74644793	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs539010214	chr6:74644824-74644825	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs555971406	chr6:74644845-74644846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs369619016	chr6:74644848-74644849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574266130	chr6:74644856-74644857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs192838024	chr6:74644858-74644859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145561228	chr6:74644859-74644860	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201829938	chr6:74644872-74644873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs373321263	chr6:74644910-74644911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs376620023	chr6:74644965-74644966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs575344182	chr6:74644992-74644993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs577958502	chr6:74645042-74645043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs545342977	chr6:74645072-74645073	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148458405	chr6:74645089-74645090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76781814	chr6:74645122-74645123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542620500	chr6:74645134-74645135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs142848448	chr6:74645210-74645211	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs147699967	chr6:74645211-74645212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs142324864	chr6:74645214-74645215	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs547223517	chr6:74645231-74645232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs572162965	chr6:74645261-74645262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:97)

Disease	PMID	Source
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Biliary cancer	19435499	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	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
Neuroblastoma	18923191	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	19010834	CNVD
Non-small cell lung cancer	21044232	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Phyllodes tumor	17334353	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21385341	CNVD
Prostate cancer	16705090	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Ependymoma	16718352	CNVD
High-proliferative meningiomas	17937814	CNVD
Intracranial tumor	16823260	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Glioma	20126413	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Pancreatic cancer	22016467	CNVD

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74643200-74647200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr6:74647200-74647400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr6:74647400-74648000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:74648000-74648200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr6:74652000-74653400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr6:74652000-74653600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr6:74652000-74654800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr6:74652200-74653400	Enhancers	NHLF	lung
9	chr6:74652200-74653800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr6:74652400-74653000	Enhancers	HMEC	breast
11	chr6:74652400-74654200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr6:74652400-74654200	Enhancers	NHDF-Ad	bronchial
13	chr6:74653200-74653400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:74653600-74654000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:74657600-74658200	ZNF genes & repeats	Spleen	Spleen
16	chr6:74657600-74658400	ZNF genes & repeats	Pancreas	Pancrea
17	chr6:74658200-74658400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:74658200-74660600	Weak transcription	Spleen	Spleen
19	chr6:74660600-74660800	Enhancers	Spleen	Spleen
20	chr6:74660600-74661000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:74660600-74661600	Enhancers	NHDF-Ad	bronchial
22	chr6:74660600-74661800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr6:74660800-74661600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr6:74660800-74661600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:74660800-74661600	Enhancers	Adipose Nuclei	Adipose
26	chr6:74663800-74664200	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr6:74664200-74664400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr6:74664400-74665600	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr6:74664400-74665800	Enhancers	Rectal Smooth Muscle	rectum
30	chr6:74664600-74664800	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr6:74664600-74665000	Enhancers	Colon Smooth Muscle	Colon
32	chr6:74664800-74667400	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr6:74665200-74665800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr6:74665400-74665600	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr6:74665400-74665800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr6:74665400-74665800	Enhancers	HMEC	breast
37	chr6:74665800-74666200	Enhancers	Fetal Brain Male	brain
38	chr6:74672200-74672400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:74672800-74673400	Enhancers	HUES64 Cell Line	embryonic stem cell
40	chr6:74673000-74673200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:74673000-74673200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr6:74673200-74674000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:74674000-74674200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:74674000-74676400	Enhancers	Colon Smooth Muscle	Colon
45	chr6:74674200-74675600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:74674200-74676200	Enhancers	Rectal Smooth Muscle	rectum
47	chr6:74674400-74676400	Enhancers	Fetal Muscle Leg	muscle
48	chr6:74675000-74676000	Enhancers	Fetal Stomach	stomach
49	chr6:74676000-74677400	Weak transcription	Fetal Stomach	stomach
50	chr6:74676200-74679600	Weak transcription	Rectal Smooth Muscle	rectum

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