Variant report

Variant	nsv886354
Chromosome Location	chr6:93127953-93199724
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	chr5:57537158..57537698-chr6:93136804..93137665,2	MCF-7	breast:
2	chr6:93198648..93200949-chr6:93203987..93205670,2	MCF-7	breast:

Extended variants
information (count: 1459 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:1459 , 50 per page) page: 1 2 3 4 5 6 7 ... 30

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs663809	chr6:93127953-93127954	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538285965	chr6:93128029-93128030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs142075704	chr6:93128036-93128037	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs572048724	chr6:93128093-93128094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541080434	chr6:93128105-93128106	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs561336192	chr6:93128106-93128107	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs574946063	chr6:93128160-93128161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs76410615	chr6:93128165-93128166	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs114191185	chr6:93128201-93128202	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs190461524	chr6:93128270-93128271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs570569995	chr6:93128274-93128275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs552653962	chr6:93128301-93128302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs367677298	chr6:93128312-93128313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs151217880	chr6:93128316-93128317	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs140400623	chr6:93128402-93128403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs56840966	chr6:93128410-93128411	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs61365540	chr6:93128412-93128413	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs567372433	chr6:93128415-93128416	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs145421490	chr6:93128509-93128510	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544085277	chr6:93128535-93128536	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs539148710	chr6:93128572-93128573	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs569660775	chr6:93128597-93128598	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs538498065	chr6:93128598-93128599	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs138025726	chr6:93128620-93128621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs200690746	chr6:93128638-93128639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs116509334	chr6:93128643-93128644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs140571098	chr6:93128652-93128653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372262238	chr6:93128711-93128712	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs185274133	chr6:93128733-93128734	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145684414	chr6:93128763-93128764	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs632559	chr6:93128962-93128963	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs557587379	chr6:93128964-93128965	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535766541	chr6:93128978-93128979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577617597	chr6:93129035-93129036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546482581	chr6:93129109-93129110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs138365368	chr6:93129111-93129112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs78007110	chr6:93129135-93129136	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149559329	chr6:93129165-93129166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs114817731	chr6:93129168-93129169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs530907529	chr6:93129248-93129249	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573362316	chr6:93129262-93129263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542318251	chr6:93129263-93129264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs78838337	chr6:93129272-93129273	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs569471132	chr6:93129300-93129301	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs77345983	chr6:93129307-93129308	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs35544664	chr6:93129315-93129316	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs78168762	chr6:93129332-93129333	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79978847	chr6:93129353-93129354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs534645711	chr6:93129356-93129357	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs554260999	chr6:93129357-93129358	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
Endometrioid adenocarcinoma	16974079	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	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
Prostate cancer	16573809	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
Breast cancer	17133270	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
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Neuropathy	19664229	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Bipolar disorder	19114987	CNVD

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:93126800-93131000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr6:93127400-93128600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr6:93130800-93144600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:93137400-93137800	Enhancers	Fetal Kidney	kidney
5	chr6:93155800-93156600	Enhancers	HepG2	liver
6	chr6:93164800-93165200	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:93165200-93170200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr6:93169400-93169800	Enhancers	HUVEC	blood vessel
9	chr6:93169400-93170200	Enhancers	HSMMtube	muscle
10	chr6:93169400-93171200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr6:93170000-93170400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr6:93170000-93170800	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr6:93170200-93171000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr6:93170200-93171000	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr6:93170200-93171200	Enhancers	HUES48 Cell Line	embryonic stem cell
16	chr6:93173000-93173400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr6:93182200-93182600	Enhancers	iPS-15b Cell Line	embryonic stem cell
18	chr6:93182200-93182800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr6:93182400-93182800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr6:93182400-93182800	Enhancers	HUES48 Cell Line	embryonic stem cell
21	chr6:93182400-93182800	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr6:93182800-93183600	Enhancers	HUVEC	blood vessel
23	chr6:93189400-93190200	Enhancers	HUVEC	blood vessel
24	chr6:93189600-93190000	Enhancers	Fetal Heart	heart
25	chr6:93190000-93191400	Weak transcription	Fetal Heart	heart
26	chr6:93191400-93192000	Enhancers	Fetal Heart	heart
27	chr6:93192000-93198000	Weak transcription	Fetal Heart	heart
28	chr6:93198000-93199000	Enhancers	Fetal Heart	heart

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