Variant report

Variant	esv3505895
Chromosome Location	chr6:141354308-141384752
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:141368847..141371211-chr6:141441776..141443428,2	K562	blood:
2	chr6:141356659..141359545-chr6:141368726..141370733,2	K562	blood:
3	chr6:141356659..141359545-chr6:141368726..141370733,2	K562	blood:
4	chr6:141210884..141213823-chr6:141384643..141387034,2	K562	blood:

Extended variants
information (count: 470 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:470 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs188122940	chr6:141354327-141354328	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs570518964	chr6:141354365-141354366	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs17828238	chr6:141354371-141354372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs192952827	chr6:141354383-141354384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs541177839	chr6:141354384-141354385	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs113056827	chr6:141354402-141354403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs183849473	chr6:141354406-141354407	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs137998374	chr6:141354438-141354439	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs556235589	chr6:141354442-141354443	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570350585	chr6:141354465-141354466	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs111728552	chr6:141354493-141354494	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188964534	chr6:141354554-141354555	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs149521416	chr6:141354620-141354621	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs11756549	chr6:141354683-141354684	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs534693640	chr6:141354691-141354692	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs553078160	chr6:141354751-141354752	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs568199202	chr6:141354768-141354769	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs536461335	chr6:141354782-141354783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs191878023	chr6:141354819-141354820	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569321863	chr6:141354860-141354861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs535332894	chr6:141354865-141354866	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs9385932	chr6:141354869-141354870	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs369963227	chr6:141354905-141354906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs571269103	chr6:141354909-141354910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs184868475	chr6:141355068-141355069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs144142518	chr6:141355090-141355091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs558891658	chr6:141355107-141355108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs539656484	chr6:141355129-141355130	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs148692217	chr6:141355130-141355131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs142041583	chr6:141355138-141355139	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs375579633	chr6:141355298-141355299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534798787	chr6:141355322-141355323	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs190597488	chr6:141355371-141355372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs181008526	chr6:141355439-141355440	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs542412792	chr6:141355570-141355571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs185991606	chr6:141355571-141355572	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs531123873	chr6:141355659-141355660	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs572657302	chr6:141355677-141355678	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs552499111	chr6:141355682-141355683	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs541511179	chr6:141355836-141355837	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556041431	chr6:141355841-141355842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs570787119	chr6:141355932-141355933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs528500564	chr6:141355946-141355947	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs546553918	chr6:141355947-141355948	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs576098952	chr6:141355972-141355973	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs568560246	chr6:141356013-141356014	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs372980700	chr6:141356046-141356047	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs557707135	chr6:141356048-141356049	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs189063121	chr6:141356107-141356108	Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs181332093	chr6:141356111-141356112	Weak transcription Flanking Active TSS	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
Gastric cancer	17908304	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
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
Primary central nervous system lymphoma	21088137	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
Breast cancer	21364760	CNVD
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute monocytic leukemia	16498392	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
craniofacial dysmorphism	21918468	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:141349400-141356000	Weak transcription	Liver	Liver
2	chr6:141353800-141354600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr6:141354000-141354400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr6:141354000-141354600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:141354000-141354800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr6:141354400-141354800	Enhancers	NHEK	skin
7	chr6:141354400-141356600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:141356000-141356200	Flanking Active TSS	Liver	Liver
9	chr6:141356200-141356600	Active TSS	Liver	Liver
10	chr6:141356600-141357200	Enhancers	Liver	Liver
11	chr6:141356600-141357800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr6:141356800-141357200	Enhancers	Fetal Lung	lung
13	chr6:141359000-141359800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr6:141362600-141363200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:141362600-141363200	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:141362600-141363400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
17	chr6:141362600-141363400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:141362800-141363200	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:141367400-141367800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:141367800-141372200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:141369600-141370000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr6:141370000-141370200	Enhancers	Right Atrium	heart
23	chr6:141370000-141371600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:141370000-141372200	Enhancers	Fetal Heart	heart
25	chr6:141370200-141370400	Enhancers	Fetal Lung	lung
26	chr6:141370200-141371800	Weak transcription	Right Atrium	heart
27	chr6:141370600-141370800	Enhancers	Ovary	ovary
28	chr6:141370800-141371800	Weak transcription	Ovary	ovary
29	chr6:141371600-141371800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr6:141371800-141372400	Enhancers	Right Atrium	heart
31	chr6:141371800-141373000	Enhancers	Ovary	ovary
32	chr6:141372000-141372400	Enhancers	Fetal Lung	lung
33	chr6:141372200-141372400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr6:141377800-141379200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr6:141378000-141379000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr6:141378200-141380200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:141378400-141378800	Enhancers	Fetal Heart	heart
38	chr6:141378400-141379200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr6:141378400-141379200	Enhancers	Right Atrium	heart
40	chr6:141378400-141379400	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr6:141378400-141379800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:141378600-141379000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr6:141378600-141379200	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr6:141378600-141379200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:141378600-141379600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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