Variant report

Variant	nsv538465
Chromosome Location	chr6:145840961-145887333
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:145866896..145869158-chr6:145873363..145875899,2	K562	blood:
2	chr6:145837938..145839550-chr6:145845212..145847304,2	K562	blood:
3	chr6:145866896..145869158-chr6:145873363..145875899,2	K562	blood:
4	chr6:145854680..145857646-chr6:145960057..145962125,2	K562	blood:
5	chr6:145873217..145875008-chr6:145943197..145945439,2	K562	blood:

Extended variants
information (count: 1606 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:1606 , 50 per page) page: 1 2 3 4 5 6 7 ... 33

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs575633297	chr6:145841622-145841623	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs62438167	chr6:145841696-145841697	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs530122964	chr6:145841699-145841700	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548221353	chr6:145841712-145841713	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12664345	chr6:145841771-145841772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570019670	chr6:145841876-145841877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs181195822	chr6:145841894-145841895	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs558837690	chr6:145841931-145841932	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs369587022	chr6:145841949-145841950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs539089847	chr6:145841951-145841952	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs147209124	chr6:145841953-145841954	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs534822664	chr6:145842010-145842011	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186273261	chr6:145842142-145842143	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs28572016	chr6:145842244-145842245	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs34823547	chr6:145842259-145842260	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs189676630	chr6:145842275-145842276	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs181889736	chr6:145842334-145842335	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs112877871	chr6:145842348-145842349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs545453442	chr6:145842350-145842351	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs397418	chr6:145842362-145842363	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs140618077	chr6:145842363-145842364	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs541265526	chr6:145842391-145842392	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs559514887	chr6:145842400-145842401	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs186146541	chr6:145842530-145842531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs548295110	chr6:145842543-145842544	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs570026862	chr6:145842546-145842547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377023496	chr6:145842575-145842576	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144358900	chr6:145842584-145842585	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs369120866	chr6:145842591-145842592	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs369695944	chr6:145842673-145842674	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs570766958	chr6:145842698-145842699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs534913405	chr6:145842722-145842723	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs565842056	chr6:145842747-145842748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs147404600	chr6:145842761-145842762	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs568245434	chr6:145842768-145842769	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs148466600	chr6:145842770-145842771	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs557040971	chr6:145842795-145842796	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs117155593	chr6:145842819-145842820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs441982	chr6:145842848-145842849	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs142556310	chr6:145842880-145842881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs571435956	chr6:145842923-145842924	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557457903	chr6:145842932-145842933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190566320	chr6:145842946-145842947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs577163019	chr6:145842951-145842952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs541300842	chr6:145843026-145843027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs114329496	chr6:145843058-145843059	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553687993	chr6:145843082-145843083	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs574717373	chr6:145843105-145843106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs573556899	chr6:145843111-145843112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537381724	chr6:145843127-145843128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:78)

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
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
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
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	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
Burkitt''s lymphoma	18698080	CNVD
Follicular lymphoma	18703704	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Autism	20531469	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:236 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145841600-145842600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:145842600-145842800	Enhancers	Stomach Mucosa	stomach
3	chr6:145842800-145851000	Weak transcription	Stomach Mucosa	stomach
4	chr6:145844400-145850800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:145848800-145849400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:145849400-145850800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:145849600-145849800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr6:145850000-145851200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
9	chr6:145850000-145851200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:145850000-145852600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
11	chr6:145850400-145850800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
12	chr6:145850400-145853200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr6:145850400-145854200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr6:145850600-145851400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr6:145850600-145851800	Enhancers	Pancreatic Islets	Pancreatic Islet
16	chr6:145850600-145852000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr6:145850600-145852600	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr6:145850800-145851000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
19	chr6:145850800-145851200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr6:145850800-145851400	Enhancers	Left Ventricle	heart
21	chr6:145850800-145851400	Enhancers	Pancreas	Pancrea
22	chr6:145850800-145851600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
23	chr6:145850800-145851600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:145850800-145852200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr6:145850800-145854600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:145851000-145851600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
27	chr6:145851000-145852400	Enhancers	Stomach Mucosa	stomach
28	chr6:145851000-145853200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
29	chr6:145851200-145851400	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
30	chr6:145851200-145851400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
31	chr6:145851200-145851400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
32	chr6:145851200-145851400	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr6:145851200-145853000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr6:145851400-145851600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
35	chr6:145851400-145852400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
36	chr6:145851400-145853600	Weak transcription	Left Ventricle	heart
37	chr6:145851600-145851800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
38	chr6:145851600-145852600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
39	chr6:145851600-145852600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr6:145851600-145853600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr6:145851800-145853200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
42	chr6:145851800-145856000	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr6:145852000-145853000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:145852000-145856600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:145852200-145853000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:145852400-145852600	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
47	chr6:145852400-145852800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
48	chr6:145852400-145852800	Weak transcription	Stomach Mucosa	stomach
49	chr6:145852600-145852800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
50	chr6:145852600-145852800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell

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