Variant report

Variant	esv21051
Chromosome Location	chr6:117509122-117565572
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	chr6:117290291..117290928-chr6:117516415..117517089,2	MCF-7	breast:
2	chr6:117292562..117293807-chr6:117509373..117510214,3	MCF-7	breast:

Extended variants
information (count: 1332 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:1332 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs374529533	chr6:117512651-117512652	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374990199	chr6:117512652-117512653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186763527	chr6:117512712-117512713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs372027879	chr6:117512748-117512749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs117194444	chr6:117512774-117512775	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs533955995	chr6:117512895-117512896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs370222587	chr6:117512903-117512904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs572438912	chr6:117512921-117512922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs191531283	chr6:117512981-117512982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs542006830	chr6:117513053-117513054	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs1724785	chr6:117513065-117513066	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs542588437	chr6:117513067-117513068	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs530697933	chr6:117513097-117513098	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs551780554	chr6:117513157-117513158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs563758595	chr6:117513222-117513223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs528043671	chr6:117513266-117513267	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183793447	chr6:117513305-117513306	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs555095904	chr6:117513306-117513307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs386359336	chr6:117513339-117513340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573142021	chr6:117513341-117513342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs150583395	chr6:117513352-117513353	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs545460483	chr6:117513361-117513362	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs374777552	chr6:117513362-117513363	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs10655628	chr6:117513363-117513364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs55709124	chr6:117513364-117513365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs574586060	chr6:117513386-117513387	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544626587	chr6:117513486-117513487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142524256	chr6:117513490-117513491	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs72095083	chr6:117513491-117513492	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs71012354	chr6:117513523-117513524	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11283578	chr6:117513528-117513529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs548749891	chr6:117513553-117513554	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs570392478	chr6:117513569-117513570	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11334166	chr6:117513588-117513589	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs537764412	chr6:117513595-117513596	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75673521	chr6:117513641-117513642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs368808357	chr6:117513648-117513649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534971205	chr6:117513681-117513682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs190916029	chr6:117513743-117513744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs543559687	chr6:117513749-117513750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574868776	chr6:117513787-117513788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201123759	chr6:117513793-117513794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs541691067	chr6:117513831-117513832	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74907193	chr6:117513832-117513833	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs377582202	chr6:117513841-117513842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78910533	chr6:117513936-117513937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs545704972	chr6:117513965-117513966	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs563998366	chr6:117513981-117513982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs200349938	chr6:117514019-117514020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs115137857	chr6:117514055-117514056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:112)

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
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
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
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	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
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	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
Urothelial carcinoma	21177765	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Salivary gland tumor	18059337	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Epilepsy	22083797	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117512600-117521200	Weak transcription	Psoas Muscle	Psoas
2	chr6:117515600-117517400	Enhancers	HSMM	muscle
3	chr6:117515800-117516000	Enhancers	Fetal Muscle Leg	muscle
4	chr6:117516000-117516400	Enhancers	HSMMtube	muscle
5	chr6:117516000-117516600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:117516000-117516600	Enhancers	Brain Substantia Nigra	brain
7	chr6:117516000-117517000	Weak transcription	Fetal Muscle Leg	muscle
8	chr6:117516000-117517200	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr6:117516000-117517400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr6:117516000-117518600	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:117516200-117517200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:117516200-117517200	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr6:117516200-117517400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr6:117516400-117520200	Weak transcription	HSMMtube	muscle
15	chr6:117516600-117517400	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr6:117516600-117518800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr6:117516800-117517200	Enhancers	H9 Cell Line	embryonic stem cell
18	chr6:117516800-117517200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:117516800-117517200	Enhancers	HMEC	breast
20	chr6:117516800-117517400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr6:117516800-117517400	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr6:117516800-117518200	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr6:117517000-117517200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:117517000-117517200	Enhancers	Fetal Muscle Leg	muscle
25	chr6:117517200-117518000	Weak transcription	Fetal Muscle Leg	muscle
26	chr6:117517200-117521000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr6:117517400-117521000	Weak transcription	HSMM	muscle
28	chr6:117518000-117520200	Enhancers	Fetal Muscle Leg	muscle
29	chr6:117518600-117525000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr6:117518800-117519600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr6:117519000-117519400	Enhancers	Right Atrium	heart
32	chr6:117519400-117519800	Weak transcription	Right Atrium	heart
33	chr6:117519800-117520000	Enhancers	Right Atrium	heart
34	chr6:117520000-117528200	Weak transcription	Right Atrium	heart
35	chr6:117520200-117521000	Enhancers	HSMMtube	muscle
36	chr6:117520200-117522000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr6:117520200-117525000	Weak transcription	Fetal Muscle Leg	muscle
38	chr6:117520400-117521800	Enhancers	Fetal Heart	heart
39	chr6:117521000-117521400	Enhancers	Adipose Nuclei	Adipose
40	chr6:117521000-117521400	Flanking Active TSS	HSMMtube	muscle
41	chr6:117521000-117521600	Enhancers	Skeletal Muscle Female	skeletal muscle
42	chr6:117521000-117521600	Enhancers	HSMM	muscle
43	chr6:117521200-117521600	Enhancers	Psoas Muscle	Psoas
44	chr6:117521400-117521600	Enhancers	HSMMtube	muscle
45	chr6:117521600-117526800	Weak transcription	HSMM	muscle
46	chr6:117521600-117526800	Weak transcription	HSMMtube	muscle
47	chr6:117525000-117525200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr6:117525000-117525400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:117525000-117525400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr6:117525000-117525400	Enhancers	Fetal Muscle Leg	muscle

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