Variant report

Variant	nsv830730
Chromosome Location	chr6:92880993-93051463
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:9)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:93025598..93027603-chr6:93032069..93034381,2	K562	blood:
2	chr6:93040169..93042395-chr6:93071437..93074372,2	K562	blood:
3	chr4:87812966..87813877-chr6:92889441..92890365,2	MCF-7	breast:
4	chr6:92878056..92881043-chr6:92883170..92886027,2	K562	blood:
5	chr6:92878056..92881043-chr6:92883170..92886027,2	K562	blood:
6	chr6:93025598..93027603-chr6:93032069..93034381,2	K562	blood:
7	chr6:93030191..93031984-chr6:93042467..93044546,2	MCF-7	breast:
8	chr1:16677364..16679984-chr6:92949175..92951286,2	MCF-7	breast:
9	chr6:93030191..93031984-chr6:93042467..93044546,2	MCF-7	breast:

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GJA10-6	chr6:92955807-92955912	NONHSAT114003
2	lnc-GJA10-6	chr6:92921652-92921876	XLOC_005387
3	lnc-GJA10-6	chr6:92955808-92955912	XLOC_005387
4	lnc-GJA10-6	chr6:92921651-92921876	NONHSAT114003

No data

Variant related genes	Relation type
ENSG00000055070	chromatin interactions
ENSG00000163633	chromatin interactions
ENSG00000037637	chromatin interactions

Extended variants
information (count: 1750 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:1750 , 50 per page) page: 1 2 3 4 5 6 7 ... 35

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563393176	chr6:92881003-92881004	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs558029378	chr6:92881014-92881015	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs369475223	chr6:92881017-92881018	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs183154278	chr6:92881034-92881035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs188438070	chr6:92881062-92881063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs142559746	chr6:92881105-92881106	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs192025077	chr6:92881106-92881107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs145833208	chr6:92881156-92881157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs183343592	chr6:92881207-92881208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs537288025	chr6:92881209-92881210	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs148222106	chr6:92881338-92881339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571111042	chr6:92881383-92881384	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs80124926	chr6:92881403-92881404	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs398085121	chr6:92881412-92881413	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs571805784	chr6:92881421-92881422	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540160813	chr6:92881522-92881523	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs553371272	chr6:92881550-92881551	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs545099315	chr6:92881551-92881552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs564993386	chr6:92881557-92881558	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs573310398	chr6:92881617-92881618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs561420382	chr6:92881618-92881619	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs535923711	chr6:92881704-92881705	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs555619332	chr6:92881706-92881707	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs77481316	chr6:92881729-92881730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs543202827	chr6:92881767-92881768	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs556757771	chr6:92881768-92881769	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs576691636	chr6:92881769-92881770	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs545727264	chr6:92881823-92881824	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs558899754	chr6:92881846-92881847	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs528595153	chr6:92881858-92881859	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs528122691	chr6:92881866-92881867	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530923354	chr6:92881967-92881968	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs188447521	chr6:92882017-92882018	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs561588365	chr6:92882042-92882043	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs200042536	chr6:92882065-92882066	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs191745032	chr6:92882162-92882163	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs72912719	chr6:92882191-92882192	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs182330914	chr6:92882265-92882266	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs571074651	chr6:92882266-92882267	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569859315	chr6:92882278-92882279	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs533653913	chr6:92882279-92882280	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs547347849	chr6:92882302-92882303	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574537468	chr6:92882330-92882331	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs566860811	chr6:92882432-92882433	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs186609888	chr6:92882442-92882443	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs555734701	chr6:92882459-92882460	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs569223203	chr6:92882530-92882531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs118052151	chr6:92882555-92882556	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs141125440	chr6:92882577-92882578	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs576654883	chr6:92882605-92882606	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Endometrioid adenocarcinoma	16974079	CNVD
Autism	22495311	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
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	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
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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	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
Lung adenocarcinoma	21935476	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
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	17640729	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	21364760	CNVD
Developmental delay	19490664	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adrenocortical carcinoma	18281524	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Neuropathy	19664229	CNVD
Neurodevelopmental disorder	22521361	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Intellectual disability	22102821	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:92879600-92881800	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr6:92879600-92881800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr6:92880400-92881400	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr6:92881400-92882400	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr6:92881800-92882200	Enhancers	iPS-18 Cell Line	embryonic stem cell
6	chr6:92881800-92882800	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr6:92882000-92882600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:92882200-92882800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr6:92883800-92884200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:92884400-92885200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr6:92884600-92885200	Enhancers	Pancreas	Pancrea
12	chr6:92885000-92897000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:92889400-92891200	Active TSS	Right Atrium	heart
14	chr6:92890800-92891600	Enhancers	Fetal Heart	heart
15	chr6:92892800-92893200	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr6:92897000-92897200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr6:92897000-92897200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr6:92897200-92898200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr6:92898200-92898800	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr6:92903400-92904200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr6:92903800-92904000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr6:92904000-92904200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr6:92905400-92906200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr6:92905600-92906400	Enhancers	Fetal Muscle Leg	muscle
25	chr6:92905800-92906400	Enhancers	Brain Hippocampus Middle	brain
26	chr6:92905800-92906800	Enhancers	Brain Cingulate Gyrus	brain
27	chr6:92906200-92906400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:92906400-92907000	Weak transcription	Brain Hippocampus Middle	brain
29	chr6:92906400-92907200	Enhancers	Brain Inferior Temporal Lobe	brain
30	chr6:92906400-92907400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
31	chr6:92906800-92907200	Weak transcription	Brain Cingulate Gyrus	brain
32	chr6:92907000-92907200	Enhancers	Brain Hippocampus Middle	brain
33	chr6:92907200-92907600	Enhancers	Brain Cingulate Gyrus	brain
34	chr6:92918000-92919000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:92940600-92941200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr6:92941000-92941400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:92965000-92965800	Enhancers	Hela-S3	cervix
38	chr6:92973400-92973800	Enhancers	Placenta Amnion	Placenta Amnion
39	chr6:92978000-92979200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr6:92978400-92978800	Enhancers	Hela-S3	cervix
41	chr6:92978800-92980600	Weak transcription	Hela-S3	cervix
42	chr6:92980600-92981400	Enhancers	Hela-S3	cervix
43	chr6:92980800-92981200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr6:92983400-92983800	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr6:92990000-92990400	Enhancers	Fetal Heart	heart
46	chr6:92990600-92991000	Enhancers	HUES64 Cell Line	embryonic stem cell
47	chr6:92990600-92991200	Enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr6:92990600-92991400	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr6:92990800-92991200	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr6:92991000-92991600	Enhancers	Muscle Satellite Cultured Cells	--

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