Variant report

Variant	nsv886565
Chromosome Location	chr6:117496126-117579585
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	chr6:117292562..117293807-chr6:117509373..117510214,3	MCF-7	breast:
2	chr6:117290291..117290928-chr6:117516415..117517089,2	MCF-7	breast:

Extended variants
information (count: 1831 )
Associated
traits (count: 112 )

Variant overlapped rSNPs/rCNVs (count:1831 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9320591	chr6:117496126-117496127	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs561694807	chr6:117496130-117496131	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs12199802	chr6:117496146-117496147	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs550487517	chr6:117496195-117496196	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs2781145	chr6:117496216-117496217	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs532804375	chr6:117496220-117496221	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs551085972	chr6:117496283-117496284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs568486448	chr6:117496333-117496334	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs192024481	chr6:117496517-117496518	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs537706914	chr6:117496530-117496531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184433944	chr6:117496629-117496630	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs373917107	chr6:117496636-117496637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs150039417	chr6:117496653-117496654	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs1852292	chr6:117496678-117496679	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs145370077	chr6:117496688-117496689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs139776928	chr6:117496704-117496705	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs397886820	chr6:117496708-117496709	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs557722322	chr6:117496710-117496711	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs553438279	chr6:117496755-117496756	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs189018033	chr6:117496766-117496767	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs546268374	chr6:117496791-117496792	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs574959186	chr6:117496805-117496806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573299586	chr6:117496842-117496843	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531322474	chr6:117496845-117496846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs562188188	chr6:117496847-117496848	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs181769570	chr6:117496874-117496875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs543992528	chr6:117496905-117496906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs542311337	chr6:117496921-117496922	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs149185026	chr6:117496935-117496936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs533011315	chr6:117496980-117496981	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs372607380	chr6:117496986-117496987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs551366530	chr6:117497004-117497005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs566310562	chr6:117497007-117497008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs527404605	chr6:117497008-117497009	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548834776	chr6:117497031-117497032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs184725246	chr6:117497050-117497051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12194732	chr6:117497174-117497175	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs554766060	chr6:117497196-117497197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545865777	chr6:117497198-117497199	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs189449371	chr6:117497213-117497214	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs569577374	chr6:117497216-117497217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs397887575	chr6:117497222-117497223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs117467706	chr6:117497234-117497235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181036405	chr6:117497241-117497242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186452225	chr6:117497243-117497244	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114210913	chr6:117497244-117497245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs113197957	chr6:117497267-117497268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs555481292	chr6:117497279-117497280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs62430546	chr6:117497286-117497287	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs191307275	chr6:117497295-117497296	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:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117491200-117496400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:117495800-117496600	Enhancers	Muscle Satellite Cultured Cells	--
3	chr6:117495800-117496800	Enhancers	HMEC	breast
4	chr6:117495800-117496800	Enhancers	HSMM	muscle
5	chr6:117495800-117496800	Enhancers	NHEK	skin
6	chr6:117496200-117496600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr6:117496200-117496800	Enhancers	HSMMtube	muscle
8	chr6:117496400-117497000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:117496600-117497000	Enhancers	Esophagus	oesophagus
10	chr6:117497000-117500600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:117512600-117521200	Weak transcription	Psoas Muscle	Psoas
12	chr6:117515600-117517400	Enhancers	HSMM	muscle
13	chr6:117515800-117516000	Enhancers	Fetal Muscle Leg	muscle
14	chr6:117516000-117516400	Enhancers	HSMMtube	muscle
15	chr6:117516000-117516600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr6:117516000-117516600	Enhancers	Brain Substantia Nigra	brain
17	chr6:117516000-117517000	Weak transcription	Fetal Muscle Leg	muscle
18	chr6:117516000-117517200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr6:117516000-117517400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr6:117516000-117518600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr6:117516200-117517200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr6:117516200-117517200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr6:117516200-117517400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr6:117516400-117520200	Weak transcription	HSMMtube	muscle
25	chr6:117516600-117517400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr6:117516600-117518800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr6:117516800-117517200	Enhancers	H9 Cell Line	embryonic stem cell
28	chr6:117516800-117517200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:117516800-117517200	Enhancers	HMEC	breast
30	chr6:117516800-117517400	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr6:117516800-117517400	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr6:117516800-117518200	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr6:117517000-117517200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:117517000-117517200	Enhancers	Fetal Muscle Leg	muscle
35	chr6:117517200-117518000	Weak transcription	Fetal Muscle Leg	muscle
36	chr6:117517200-117521000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr6:117517400-117521000	Weak transcription	HSMM	muscle
38	chr6:117518000-117520200	Enhancers	Fetal Muscle Leg	muscle
39	chr6:117518600-117525000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr6:117518800-117519600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr6:117519000-117519400	Enhancers	Right Atrium	heart
42	chr6:117519400-117519800	Weak transcription	Right Atrium	heart
43	chr6:117519800-117520000	Enhancers	Right Atrium	heart
44	chr6:117520000-117528200	Weak transcription	Right Atrium	heart
45	chr6:117520200-117521000	Enhancers	HSMMtube	muscle
46	chr6:117520200-117522000	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr6:117520200-117525000	Weak transcription	Fetal Muscle Leg	muscle
48	chr6:117520400-117521800	Enhancers	Fetal Heart	heart
49	chr6:117521000-117521400	Enhancers	Adipose Nuclei	Adipose
50	chr6:117521000-117521400	Flanking Active TSS	HSMMtube	muscle

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