Variant report

Variant	nsv1028290
Chromosome Location	chr6:145819982-145911857
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

Extended variants
information (count: 3093 )
Associated
traits (count: 78 )

Variant overlapped rSNPs/rCNVs (count:3093 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114371618	chr6:145820021-145820022	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs373642085	chr6:145820085-145820086	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs536456302	chr6:145820086-145820087	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546592956	chr6:145820093-145820094	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553204981	chr6:145820115-145820116	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs566031381	chr6:145820161-145820162	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs566393337	chr6:145820177-145820178	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs536505360	chr6:145820178-145820179	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs395948	chr6:145820185-145820186	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs576551823	chr6:145820211-145820212	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs184485342	chr6:145820220-145820221	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs558760157	chr6:145820232-145820233	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs186787545	chr6:145820301-145820302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs541040464	chr6:145820307-145820308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559279565	chr6:145820323-145820324	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs192666973	chr6:145820328-145820329	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs544992161	chr6:145820332-145820333	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs541752530	chr6:145820375-145820376	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563541049	chr6:145820395-145820396	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs184755008	chr6:145820405-145820406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs545914575	chr6:145820408-145820409	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs564192432	chr6:145820454-145820455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs528159497	chr6:145820498-145820499	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs116119818	chr6:145820542-145820543	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs568014238	chr6:145820561-145820562	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545105615	chr6:145820567-145820568	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs564970823	chr6:145820576-145820577	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs374889232	chr6:145820638-145820639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs452552	chr6:145820781-145820782	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs537269191	chr6:145820782-145820783	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558688262	chr6:145820803-145820804	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565026419	chr6:145820813-145820814	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs534747072	chr6:145820852-145820853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs451349	chr6:145820894-145820895	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs574734424	chr6:145820930-145820931	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs542143739	chr6:145820951-145820952	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs144084194	chr6:145820977-145820978	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs117653130	chr6:145821012-145821013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs545696195	chr6:145821019-145821020	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs564233286	chr6:145821036-145821037	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs528199120	chr6:145821063-145821064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540327902	chr6:145821070-145821071	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs5880643	chr6:145821089-145821090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs76866695	chr6:145821107-145821108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs528859932	chr6:145821127-145821128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs78069512	chr6:145821128-145821129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs189086793	chr6:145821140-145821141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs562900432	chr6:145821146-145821147	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs5880644	chr6:145821147-145821148	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs398110795	chr6:145821156-145821157	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:296 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145819000-145820600	Enhancers	Stomach Mucosa	stomach
2	chr6:145820600-145823200	Weak transcription	Stomach Mucosa	stomach
3	chr6:145821800-145822000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr6:145823200-145823800	Enhancers	Stomach Mucosa	stomach
5	chr6:145823400-145823600	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:145823800-145827200	Weak transcription	Stomach Mucosa	stomach
7	chr6:145826400-145829200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:145827000-145829000	Enhancers	Hela-S3	cervix
9	chr6:145827200-145829400	Enhancers	Stomach Mucosa	stomach
10	chr6:145827400-145828200	Enhancers	Adipose Nuclei	Adipose
11	chr6:145827800-145828200	Enhancers	Placenta	Placenta
12	chr6:145827800-145828200	Enhancers	Psoas Muscle	Psoas
13	chr6:145827800-145828200	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr6:145827800-145829000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:145827800-145829400	Enhancers	HMEC	breast
16	chr6:145828200-145828800	Weak transcription	Adipose Nuclei	Adipose
17	chr6:145828800-145829800	ZNF genes & repeats	Adipose Nuclei	Adipose
18	chr6:145829000-145829400	Enhancers	H1 Cell Line	embryonic stem cell
19	chr6:145829000-145829400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr6:145829000-145829400	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr6:145829000-145829800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr6:145829000-145837400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr6:145829200-145829400	Enhancers	H9 Cell Line	embryonic stem cell
24	chr6:145829200-145829400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr6:145829200-145830400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr6:145841600-145842600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:145842600-145842800	Enhancers	Stomach Mucosa	stomach
28	chr6:145842800-145851000	Weak transcription	Stomach Mucosa	stomach
29	chr6:145844400-145850800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:145848800-145849400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:145849400-145850800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:145849600-145849800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr6:145850000-145851200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
34	chr6:145850000-145851200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:145850000-145852600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
36	chr6:145850400-145850800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
37	chr6:145850400-145853200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr6:145850400-145854200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:145850600-145851400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr6:145850600-145851800	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr6:145850600-145852000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr6:145850600-145852600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr6:145850800-145851000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
44	chr6:145850800-145851200	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
45	chr6:145850800-145851400	Enhancers	Left Ventricle	heart
46	chr6:145850800-145851400	Enhancers	Pancreas	Pancrea
47	chr6:145850800-145851600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
48	chr6:145850800-145851600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:145850800-145852200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr6:145850800-145854600	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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