Variant report

Variant	nsv349088
Chromosome Location	chr6:74369519-74371707
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	chr6:74363756..74365330-chr6:74368288..74371193,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000119899	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs370924133	chr6:74369539-74369540	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs552787186	chr6:74369562-74369563	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs546818581	chr6:74369570-74369571	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs527628915	chr6:74369574-74369575	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs372746638	chr6:74369577-74369578	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs201550579	chr6:74369578-74369579	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs190515735	chr6:74369710-74369711	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs571082882	chr6:74369744-74369745	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs565395213	chr6:74369745-74369746	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs370991708	chr6:74369756-74369757	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs532570619	chr6:74369759-74369760	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs551184237	chr6:74369763-74369764	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs556421521	chr6:74369772-74369773	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs4032262	chr6:74369778-74369779	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs535432870	chr6:74369807-74369808	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs4382210	chr6:74369892-74369893	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs367546670	chr6:74369932-74369933	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs554162132	chr6:74370022-74370023	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs572769260	chr6:74370039-74370040	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs540172131	chr6:74370044-74370045	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs564717490	chr6:74370054-74370055	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs9446970	chr6:74370066-74370067	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
23	rs544287794	chr6:74370097-74370098	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs562404547	chr6:74370106-74370107	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs529798862	chr6:74370114-74370115	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs182480718	chr6:74370143-74370144	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs541426025	chr6:74370169-74370170	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs373788739	chr6:74370184-74370185	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs560224137	chr6:74370192-74370193	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs57023643	chr6:74370236-74370237	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs62440492	chr6:74370269-74370270	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs28711297	chr6:74370271-74370272	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs79820825	chr6:74370320-74370321	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs79311193	chr6:74370368-74370369	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs563024133	chr6:74370400-74370401	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs531898420	chr6:74370406-74370407	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs550349691	chr6:74370409-74370410	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs374625351	chr6:74370410-74370411	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs568430819	chr6:74370464-74370465	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs527791697	chr6:74370472-74370473	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs535963376	chr6:74370474-74370475	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs78200787	chr6:74370490-74370491	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs376462855	chr6:74370491-74370492	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs533834904	chr6:74370494-74370495	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs558464348	chr6:74370495-74370496	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs576736645	chr6:74370500-74370501	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs567866258	chr6:74370512-74370513	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs367661063	chr6:74370522-74370523	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs544030568	chr6:74370545-74370546	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs182680649	chr6:74370556-74370557	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	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	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74364600-74370200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr6:74365000-74374800	Weak transcription	HUVEC	blood vessel
3	chr6:74365200-74369800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:74365200-74375000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr6:74365400-74369600	Weak transcription	K562	blood
6	chr6:74365400-74373800	Weak transcription	Fetal Intestine Small	intestine
7	chr6:74365600-74375600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr6:74367200-74374600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:74368200-74373000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr6:74369600-74369800	Enhancers	K562	blood
11	chr6:74369800-74373000	Weak transcription	K562	blood

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