Variant report

Variant	esv3473195
Chromosome Location	chr6:113700879-113703213
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:113696986..113699351-chr6:113701475..113704316,2	MCF-7	breast:
2	chr6:113701651..113703892-chr6:113706663..113709047,2	K562	blood:

Extended variants
information (count: 127 )
Associated
traits (count: 118 )

Variant overlapped rSNPs/rCNVs (count:127 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370759891	chr6:113700982-113700983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs9488160	chr6:113700984-113700985	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs544191382	chr6:113700989-113700990	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116882731	chr6:113701006-113701007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs369934787	chr6:113701015-113701016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs376988233	chr6:113701021-113701022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs553893437	chr6:113701027-113701028	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs372911811	chr6:113701031-113701032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs376166166	chr6:113701052-113701053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs375408512	chr6:113701053-113701054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs368647689	chr6:113701057-113701058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs371498197	chr6:113701058-113701059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs374360819	chr6:113701062-113701063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs371760989	chr6:113701068-113701069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs369622228	chr6:113701071-113701072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs373086797	chr6:113701075-113701076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs374842711	chr6:113701077-113701078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs367724011	chr6:113701078-113701079	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs371442805	chr6:113701081-113701082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374734890	chr6:113701082-113701083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373864432	chr6:113701085-113701086	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs375593373	chr6:113701092-113701093	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs9400617	chr6:113701093-113701094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369686295	chr6:113701094-113701095	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs372881244	chr6:113701096-113701097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377492615	chr6:113701098-113701099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370623557	chr6:113701099-113701100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs373466622	chr6:113701100-113701101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs376007462	chr6:113701106-113701107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs377367538	chr6:113701108-113701109	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375433296	chr6:113701115-113701116	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369365025	chr6:113701118-113701119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs376743435	chr6:113701122-113701123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370978988	chr6:113701151-113701152	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs374259289	chr6:113701158-113701159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368171943	chr6:113701160-113701161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs372616267	chr6:113701172-113701173	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs376879115	chr6:113701175-113701176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370170156	chr6:113701177-113701178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs9400618	chr6:113701198-113701199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs9387139	chr6:113701204-113701205	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs112476318	chr6:113701216-113701217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs9400619	chr6:113701237-113701238	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs187694821	chr6:113701282-113701283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs191321197	chr6:113701361-113701362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111218828	chr6:113701372-113701373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs184978715	chr6:113701390-113701391	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs189310619	chr6:113701446-113701447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs371560406	chr6:113701489-113701490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs373828382	chr6:113701493-113701494	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:118)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
lymphocytic leukemia	21291569	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
Breast cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	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
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	17805327	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Autism	17483303	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:113698200-113702600	Weak transcription	NHEK	skin
2	chr6:113698600-113702000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr6:113698600-113703200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:113698600-113703200	Weak transcription	HUVEC	blood vessel
5	chr6:113698800-113702400	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr6:113698800-113705800	Weak transcription	NH-A	brain
7	chr6:113699000-113702200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:113699000-113702200	Weak transcription	Fetal Lung	lung
9	chr6:113699000-113704600	Weak transcription	Osteobl	bone
10	chr6:113699200-113706400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:113699400-113702200	Weak transcription	GM12878-XiMat	blood
12	chr6:113699400-113702200	Weak transcription	NHLF	lung
13	chr6:113699400-113703200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:113699600-113703400	Weak transcription	Fetal Stomach	stomach
15	chr6:113700200-113701000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr6:113700400-113702200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr6:113700600-113701000	Enhancers	NHDF-Ad	bronchial
18	chr6:113700600-113702800	Weak transcription	HSMM	muscle
19	chr6:113700800-113702600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:113700800-113703200	Weak transcription	A549	lung
21	chr6:113701000-113701800	Weak transcription	NHDF-Ad	bronchial
22	chr6:113701000-113703200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:113701800-113703600	Enhancers	NHDF-Ad	bronchial
24	chr6:113702000-113702800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr6:113702200-113702400	Enhancers	Fetal Lung	lung
26	chr6:113702200-113703400	Enhancers	GM12878-XiMat	blood
27	chr6:113702200-113703600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:113702200-113703800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:113702200-113704000	Enhancers	NHLF	lung
30	chr6:113702200-113705000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr6:113702400-113702800	Weak transcription	Fetal Lung	lung
32	chr6:113702400-113703600	Enhancers	Muscle Satellite Cultured Cells	--
33	chr6:113702600-113703200	Enhancers	NHEK	skin
34	chr6:113702600-113703400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr6:113702600-113703600	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr6:113702800-113703200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:113702800-113703800	Enhancers	Fetal Lung	lung
38	chr6:113703000-113703600	Enhancers	Fetal Brain Female	brain
39	chr6:113703000-113704000	Bivalent Enhancer	Primary B cells from cord blood	blood
40	chr6:113703200-113703400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:113703200-113703400	Enhancers	A549	lung
42	chr6:113703200-113703600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:113703200-113703600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr6:113703200-113703600	Enhancers	Adipose Nuclei	Adipose
45	chr6:113703200-113703600	Enhancers	Fetal Brain Male	brain
46	chr6:113703200-113703600	Enhancers	HUVEC	blood vessel
47	chr6:113703200-113703800	Enhancers	Breast Myoepithelial Primary Cells	Breast

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