Variant report

Variant	nsv886779
Chromosome Location	chr6:153748334-153804853
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:109931233..109932150-chr6:153783458..153784309,2	MCF-7	breast:
2	chr6:153747500..153749938-chr6:153764561..153767093,2	K562	blood:
3	chr6:153803007..153804639-chr6:153864655..153867623,2	K562	blood:
4	chr6:153747500..153749938-chr6:153764561..153767093,2	K562	blood:
5	chr6:153801852..153804495-chr6:153807281..153809630,2	K562	blood:

Extended variants
information (count: 1268 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:1268 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs270299	chr6:153748334-153748335	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs568041390	chr6:153748349-153748350	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs77754838	chr6:153748352-153748353	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs577255457	chr6:153748388-153748389	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs538296843	chr6:153748389-153748390	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs144089241	chr6:153748409-153748410	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561807104	chr6:153748421-153748422	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374277026	chr6:153748455-153748456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs148662404	chr6:153748479-153748480	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs186211314	chr6:153748503-153748504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs371628314	chr6:153748553-153748554	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs199691399	chr6:153748616-153748617	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs572823998	chr6:153748617-153748618	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs73014463	chr6:153748647-153748648	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73014465	chr6:153748649-153748650	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs73014466	chr6:153748688-153748689	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs368434853	chr6:153748700-153748701	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs6933283	chr6:153748712-153748713	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs201572703	chr6:153748776-153748777	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs146742574	chr6:153748777-153748778	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs200048348	chr6:153748780-153748781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs200663458	chr6:153748781-153748782	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs191069610	chr6:153748787-153748788	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs139760682	chr6:153748805-153748806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs371913278	chr6:153748806-153748807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs368188860	chr6:153748808-153748809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs550625460	chr6:153748835-153748836	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs73014467	chr6:153748845-153748846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562461166	chr6:153748875-153748876	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs371140802	chr6:153748885-153748886	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs373826988	chr6:153748921-153748922	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs369074328	chr6:153748926-153748927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113696136	chr6:153748932-153748933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs374604243	chr6:153748933-153748934	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs78193719	chr6:153748956-153748957	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs368569473	chr6:153748970-153748971	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs200333996	chr6:153748971-153748972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs370965486	chr6:153748984-153748985	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs182803503	chr6:153748993-153748994	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs78764617	chr6:153748995-153748996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs73014469	chr6:153749010-153749011	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs547808743	chr6:153749013-153749014	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs79432341	chr6:153749043-153749044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs115984995	chr6:153749050-153749051	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs76817545	chr6:153749055-153749056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs202133366	chr6:153749066-153749067	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs566424973	chr6:153749074-153749075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs66520964	chr6:153749100-153749101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs73014470	chr6:153749119-153749120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs78200563	chr6:153749134-153749135	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
Autism	22495311	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
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
Colorectal cancer	16272173	CNVD
Ependymoma	16718352	CNVD
Gastric cancer	17908304	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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Leukemia	18688285	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17850661	CNVD
Renal cell carcinoma	18765545	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Breast cancer	20556506	CNVD
Hirschsprung''s Disease	21712996	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	19459884	CNVD
Hearing loss	19459884	CNVD
Microcephaly	19459884	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:153746600-153748800	Enhancers	HMEC	breast
2	chr6:153747800-153748800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr6:153748800-153756800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr6:153751400-153752000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr6:153752800-153756800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:153756200-153756600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:153756200-153759400	Enhancers	HUES48 Cell Line	embryonic stem cell
8	chr6:153756600-153758000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:153756600-153758600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:153756600-153759200	Enhancers	iPS-18 Cell Line	embryonic stem cell
11	chr6:153756800-153757000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:153756800-153757800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr6:153756800-153757800	Enhancers	HMEC	breast
14	chr6:153756800-153758000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr6:153756800-153758000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr6:153756800-153758800	Enhancers	iPS-20b Cell Line	embryonic stem cell
17	chr6:153756800-153759200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr6:153756800-153759200	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr6:153756800-153759200	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr6:153757000-153757200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr6:153757000-153757600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr6:153757000-153758800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr6:153757200-153761400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr6:153757600-153757800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr6:153757600-153757800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr6:153757800-153759200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr6:153758000-153761400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr6:153758000-153764000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr6:153758000-153764200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:153758600-153758800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:153758800-153759200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:153758800-153760000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr6:153759200-153759400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr6:153759200-153759400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr6:153759200-153761400	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr6:153759200-153761600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr6:153759200-153762600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr6:153759200-153762800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr6:153759400-153759800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr6:153759400-153760400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:153759800-153761200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr6:153760000-153760600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr6:153760000-153760800	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr6:153760400-153761000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr6:153760600-153762600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr6:153760800-153762800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr6:153761000-153761400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr6:153761200-153761600	Weak transcription	HUES48 Cell Line	embryonic stem cell
49	chr6:153761200-153761800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr6:153761400-153761600	Enhancers	H9 Cell Line	embryonic stem cell

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