Variant report

Variant	esv2753543
Chromosome Location	chr6:77791848-78059351
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:10)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:77789816..77792287-chr6:77876567..77879550,2	K562	blood:
2	chr6:77882123..77883969-chr6:77885835..77887575,2	MCF-7	breast:
3	chr6:77789816..77792287-chr6:77876567..77879550,2	K562	blood:
4	chr6:78025798..78027622-chr6:78028846..78031476,2	K562	blood:
5	chr6:77883269..77883819-chr6:78167410..78168146,2	MCF-7	breast:
6	chr6:58777416..58779792-chr6:77801547..77804072,2	MCF-7	breast:
7	chr6:77882123..77883969-chr6:77885835..77887575,2	MCF-7	breast:
8	chr6:78025798..78027622-chr6:78028846..78031476,2	K562	blood:

(count:10 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MYO6-12	chr6:77798170-77801007	NONHSAT113653
2	lnc-MYO6-14	chr6:77861536-77861691	NONHSAT113655
3	lnc-MYO6-14	chr6:77982719-77983120	NONHSAT113655
4	lnc-MYO6-15	chr6:77849239-77849469	NONHSAT113650
5	lnc-HTR1B-2	chr6:77822661-77823096	XLOC_005768
6	lnc-MYO6-13	chr6:77968266-77968939	NONHSAT113658
7	lnc-MYO6-14	chr6:78025794-78026948	NONHSAT113655
8	lnc-HTR1B-2	chr6:77860918-77860954	XLOC_005768
9	lnc-MYO6-14	chr6:77860253-77860997	NONHSAT113655
10	lnc-MYO6-14	chr6:77980575-77981210	NONHSAT113655

No data

Variant related genes	Relation type
CHMP2B	miRNA target sites
PRKD3	miRNA target sites

Extended variants
information (count: 7958 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:7958 , 50 per page) page: 1 2 3 4 5 6 7 ... 160

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs184212566	chr6:77798179-77798180	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
2	rs187106908	chr6:77798180-77798181	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
3	rs548343853	chr6:77798183-77798184	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
4	rs150146102	chr6:77798196-77798197	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
5	rs533984976	chr6:77798200-77798201	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
6	rs10943413	chr6:77798214-77798215	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs543151012	chr6:77798218-77798219	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
8	rs138559063	chr6:77798244-77798245	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
9	rs191115765	chr6:77798286-77798287	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
10	rs376938682	chr6:77798329-77798330	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
11	rs561212213	chr6:77798337-77798338	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
12	rs556162387	chr6:77798395-77798396	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
13	rs574647226	chr6:77798428-77798429	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
14	rs535305669	chr6:77798488-77798489	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
15	rs553968756	chr6:77798518-77798519	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
16	rs572173737	chr6:77798535-77798536	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
17	rs528518369	chr6:77798593-77798594	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
18	rs182088016	chr6:77798640-77798641	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
19	rs546553619	chr6:77798654-77798655	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
20	rs80278916	chr6:77798685-77798686	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
21	rs371141809	chr6:77798698-77798699	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
22	rs72886914	chr6:77798716-77798717	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs570205690	chr6:77798758-77798759	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
24	rs544915805	chr6:77798781-77798782	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
25	rs563058539	chr6:77798786-77798787	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
26	rs113104359	chr6:77798804-77798805	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
27	rs548380463	chr6:77798850-77798851	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
28	rs191482490	chr6:77798857-77798858	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
29	rs370881442	chr6:77798892-77798893	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
30	rs367591201	chr6:77798893-77798894	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
31	rs149388030	chr6:77798995-77798996	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
32	rs182509542	chr6:77799020-77799021	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
33	rs16888565	chr6:77799108-77799109	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs537875395	chr6:77799162-77799163	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
35	rs375144330	chr6:77799179-77799180	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
36	rs550115351	chr6:77799184-77799185	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
37	rs113388644	chr6:77799194-77799195	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
38	rs188809309	chr6:77799235-77799236	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
39	rs535699891	chr6:77799311-77799312	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
40	rs554054902	chr6:77799324-77799325	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
41	rs9447962	chr6:77799351-77799352	Inactive region	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs192867310	chr6:77799372-77799373	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
43	rs557544078	chr6:77799397-77799398	Inactive region	lncRNA	n/a	Overlapped CNVs	n/a
44	rs569473904	chr6:77799506-77799507	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
45	rs77425206	chr6:77799593-77799594	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
46	rs555299427	chr6:77799606-77799607	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
47	rs575079902	chr6:77799636-77799637	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
48	rs78921688	chr6:77799694-77799695	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
49	rs560349440	chr6:77799744-77799745	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a
50	rs185807619	chr6:77799749-77799750	Enhancers	lncRNA	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

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
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
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
Acute lymphoblastic leukemia	21098271	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
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Cancer	20164920	CNVD
Burkitt''s lymphoma	20823134	CNVD
Ductal carcinoma	22052326	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:488 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:77799400-77800200	Enhancers	HMEC	breast
2	chr6:77802400-77803600	Enhancers	HSMMtube	muscle
3	chr6:77802400-77803800	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr6:77802600-77803200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr6:77802600-77803400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr6:77802600-77803400	Enhancers	Psoas Muscle	Psoas
7	chr6:77803000-77803200	Enhancers	HUES6 Cell Line	embryonic stem cell
8	chr6:77803200-77804600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:77803600-77804000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr6:77803800-77807200	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr6:77804000-77804200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:77804200-77804600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr6:77804400-77804800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr6:77804400-77804800	Enhancers	Liver	Liver
15	chr6:77804600-77805000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr6:77804600-77805000	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr6:77804600-77814400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr6:77804800-77806000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr6:77804800-77806400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr6:77805800-77806400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:77806000-77806200	Enhancers	iPS-18 Cell Line	embryonic stem cell
22	chr6:77806400-77809400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:77807200-77809200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr6:77807400-77807600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr6:77807600-77807800	Enhancers	Left Ventricle	heart
26	chr6:77807600-77807800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
27	chr6:77807800-77808000	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr6:77807800-77808400	Weak transcription	Left Ventricle	heart
29	chr6:77808000-77809000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr6:77808200-77808600	Enhancers	Right Ventricle	heart
31	chr6:77808400-77808600	Enhancers	Left Ventricle	heart
32	chr6:77808600-77822400	Weak transcription	Left Ventricle	heart
33	chr6:77808800-77809000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:77809000-77809800	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr6:77809200-77810000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr6:77809400-77810000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:77809800-77810000	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr6:77810000-77810200	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr6:77810000-77814200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:77810200-77810800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr6:77810800-77811000	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr6:77811000-77817000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr6:77814200-77815000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:77816200-77817000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr6:77816400-77816600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr6:77816400-77817200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr6:77816800-77817200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr6:77817000-77817800	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr6:77817200-77818600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr6:77817400-77817600	Enhancers	iPS-15b Cell Line	embryonic stem cell

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