Variant report

Variant	nsv1029856
Chromosome Location	chr6:117516202-117557686
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:

Extended variants
information (count: 1131 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:1131 , 50 per page) page: 1 2 3 4 5 6 7 ... 23

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs368253254	chr6:117516203-117516204	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs573847648	chr6:117516264-117516265	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs147361749	chr6:117516302-117516303	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs189005896	chr6:117516332-117516333	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs534746365	chr6:117516344-117516345	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553326884	chr6:117516376-117516377	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs181757448	chr6:117516417-117516418	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs571452089	chr6:117516422-117516423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs559948294	chr6:117516425-117516426	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs573385464	chr6:117516432-117516433	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540465945	chr6:117516485-117516486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184730668	chr6:117516491-117516492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs538897621	chr6:117516571-117516572	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536562569	chr6:117516630-117516631	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs554907407	chr6:117516655-117516656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs529544105	chr6:117516713-117516714	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs550587843	chr6:117516738-117516739	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs1556570	chr6:117516743-117516744	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs536067503	chr6:117516751-117516752	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs533117540	chr6:117516811-117516812	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551464449	chr6:117516838-117516839	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs566849686	chr6:117516860-117516861	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs534037146	chr6:117516866-117516867	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs548892236	chr6:117516878-117516879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs567580954	chr6:117516907-117516908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs139015293	chr6:117517031-117517032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1013679	chr6:117517041-117517042	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs371999568	chr6:117517103-117517104	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs11964309	chr6:117517149-117517150	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs149970207	chr6:117517185-117517186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs542823205	chr6:117517212-117517213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs189171185	chr6:117517224-117517225	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs553878526	chr6:117517296-117517297	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs572036476	chr6:117517301-117517302	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs558776341	chr6:117517343-117517344	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs540855469	chr6:117517373-117517374	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs562118600	chr6:117517385-117517386	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs573863085	chr6:117517402-117517403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544514503	chr6:117517444-117517445	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs562796302	chr6:117517477-117517478	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs145081986	chr6:117517485-117517486	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs117762185	chr6:117517496-117517497	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs560043237	chr6:117517520-117517521	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181040512	chr6:117517580-117517581	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs527764298	chr6:117517604-117517605	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs549431677	chr6:117517614-117517615	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186277513	chr6:117517615-117517616	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577450527	chr6:117517625-117517626	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116656737	chr6:117517659-117517660	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs117145250	chr6:117517705-117517706	Enhancers 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:118 , 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	chr6:117516000-117516400	Enhancers	HSMMtube	muscle
4	chr6:117516000-117516600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:117516000-117516600	Enhancers	Brain Substantia Nigra	brain
6	chr6:117516000-117517000	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:117516000-117517200	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr6:117516000-117517400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:117516000-117518600	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr6:117516200-117517200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr6:117516200-117517200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr6:117516200-117517400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr6:117516400-117520200	Weak transcription	HSMMtube	muscle
14	chr6:117516600-117517400	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr6:117516600-117518800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:117516800-117517200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr6:117516800-117517200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr6:117516800-117517200	Enhancers	HMEC	breast
19	chr6:117516800-117517400	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr6:117516800-117517400	Enhancers	iPS-15b Cell Line	embryonic stem cell
21	chr6:117516800-117518200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr6:117517000-117517200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:117517000-117517200	Enhancers	Fetal Muscle Leg	muscle
24	chr6:117517200-117518000	Weak transcription	Fetal Muscle Leg	muscle
25	chr6:117517200-117521000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr6:117517400-117521000	Weak transcription	HSMM	muscle
27	chr6:117518000-117520200	Enhancers	Fetal Muscle Leg	muscle
28	chr6:117518600-117525000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr6:117518800-117519600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:117519000-117519400	Enhancers	Right Atrium	heart
31	chr6:117519400-117519800	Weak transcription	Right Atrium	heart
32	chr6:117519800-117520000	Enhancers	Right Atrium	heart
33	chr6:117520000-117528200	Weak transcription	Right Atrium	heart
34	chr6:117520200-117521000	Enhancers	HSMMtube	muscle
35	chr6:117520200-117522000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr6:117520200-117525000	Weak transcription	Fetal Muscle Leg	muscle
37	chr6:117520400-117521800	Enhancers	Fetal Heart	heart
38	chr6:117521000-117521400	Enhancers	Adipose Nuclei	Adipose
39	chr6:117521000-117521400	Flanking Active TSS	HSMMtube	muscle
40	chr6:117521000-117521600	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr6:117521000-117521600	Enhancers	HSMM	muscle
42	chr6:117521200-117521600	Enhancers	Psoas Muscle	Psoas
43	chr6:117521400-117521600	Enhancers	HSMMtube	muscle
44	chr6:117521600-117526800	Weak transcription	HSMM	muscle
45	chr6:117521600-117526800	Weak transcription	HSMMtube	muscle
46	chr6:117525000-117525200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr6:117525000-117525400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr6:117525000-117525400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:117525000-117525400	Enhancers	Fetal Muscle Leg	muscle
50	chr6:117525200-117526000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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