Variant report

Variant	nsv965756
Chromosome Location	chr6:114182421-114183723
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:4)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:113964552..113967035-chr6:114182588..114184413,2	MCF-7	breast:
2	chr6:114183529..114185723-chr6:114208542..114210250,2	MCF-7	breast:
3	chr6:113732055..113735601-chr6:114178607..114183451,4	MCF-7	breast:
4	chr6:114180592..114182407-chr6:114183261..114185207,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MARCKS-7	chr6:114181691-114182980	NONHSAT114573

No data

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

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	MARCKS	hsa-miR-1	chr6:114183144-114183167

Extended variants
information (count: 41 )
Associated
traits (count: 116 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1803844	chr6:114182485-114182486	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
2	rs45460602	chr6:114182532-114182533	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs181436457	chr6:114182569-114182570	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
4	rs542287099	chr6:114182579-114182580	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
5	rs563674198	chr6:114182636-114182637	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
6	rs530884087	chr6:114182646-114182647	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
7	rs200123264	chr6:114182662-114182663	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
8	rs552654528	chr6:114182670-114182671	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
9	rs570827525	chr6:114182711-114182712	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
10	rs3210346	chr6:114182756-114182757	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
11	rs374346755	chr6:114182760-114182761	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
12	rs200487350	chr6:114182783-114182784	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
13	rs398085233	chr6:114182790-114182791	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
14	rs397718021	chr6:114182791-114182792	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
15	rs1063524	chr6:114182840-114182841	Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
16	rs185776191	chr6:114182875-114182876	Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS	lncRNA	n/a	Overlapped CNVs	n/a
17	rs548527443	chr6:114182996-114182997	Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs374987606	chr6:114183009-114183010	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs547258665	chr6:114183035-114183036	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs569959697	chr6:114183086-114183087	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs552826723	chr6:114183126-114183127	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs352083	chr6:114183141-114183142	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs45505397	chr6:114183162-114183163	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
24	rs397897545	chr6:114183164-114183165	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers	miRNA target site	1 gene(s)	Overlapped CNVs	n/a
25	rs367945569	chr6:114183193-114183194	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs190105919	chr6:114183242-114183243	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs571157123	chr6:114183309-114183310	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs569321680	chr6:114183329-114183330	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs352084	chr6:114183385-114183386	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs553174158	chr6:114183390-114183391	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs149350734	chr6:114183402-114183403	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs112051674	chr6:114183415-114183416	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs576844500	chr6:114183461-114183462	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs541647979	chr6:114183476-114183477	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs553285049	chr6:114183585-114183586	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs200679532	chr6:114183592-114183593	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs145532268	chr6:114183593-114183594	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs553225911	chr6:114183594-114183595	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs57774858	chr6:114183611-114183612	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs45457891	chr6:114183672-114183673	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs567429487	chr6:114183714-114183715	Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:116)

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
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
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	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
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
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
Invasive pancreatic ductal carcinoma	16982739	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
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
Basal cell lymphoma	17170743	CNVD
Prostate cancer	16573809	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Systemic lupus erythematosus	19220326	CNVD
Cancer	17160897	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Acute lymphoblastic leukemia	17229543	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
small cell lung cancer	20016488	CNVD
Urothelial carcinoma	21177765	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Neurodevelopmental disorder	22521361	CNVD

Chromatin state (count:149 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:114175600-114183000	Active TSS	Duodenum Smooth Muscle	Duodenum
2	chr6:114175600-114183600	Active TSS	Right Atrium	heart
3	chr6:114175600-114184000	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr6:114175800-114182600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr6:114175800-114182800	Active TSS	Psoas Muscle	Psoas
6	chr6:114176000-114183200	Active TSS	Colon Smooth Muscle	Colon
7	chr6:114177600-114183000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:114178000-114183000	Active TSS	Fetal Muscle Leg	muscle
9	chr6:114179400-114184200	Active TSS	Fetal Brain Female	brain
10	chr6:114180200-114182600	Active TSS	Stomach Smooth Muscle	stomach
11	chr6:114180400-114182800	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:114180600-114183600	Active TSS	Brain Germinal Matrix	brain
13	chr6:114180800-114182600	Active TSS	HMEC	breast
14	chr6:114180800-114182800	Active TSS	Duodenum Mucosa	Duodenum
15	chr6:114180800-114182800	Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr6:114181000-114182800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr6:114181000-114184000	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr6:114181000-114184600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:114181000-114200200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr6:114181200-114183000	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
21	chr6:114181200-114184000	Genic enhancers	Primary neutrophils fromperipheralblood	blood
22	chr6:114181200-114193200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr6:114181400-114183800	Transcr. at gene 5' and 3'	HUVEC	blood vessel
24	chr6:114181600-114182600	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
25	chr6:114181600-114182600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:114181600-114184000	Transcr. at gene 5' and 3'	NH-A	brain
27	chr6:114181600-114184200	Strong transcription	Primary B cells from peripheral blood	blood
28	chr6:114181800-114182600	Strong transcription	H1 Cell Line	embryonic stem cell
29	chr6:114181800-114182600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
30	chr6:114181800-114182600	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr6:114181800-114182600	Transcr. at gene 5' and 3'	Fetal Lung	lung
32	chr6:114181800-114182600	Flanking Active TSS	HepG2	liver
33	chr6:114181800-114182600	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
34	chr6:114181800-114182800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr6:114181800-114182800	Transcr. at gene 5' and 3'	Fetal Kidney	kidney
36	chr6:114181800-114183000	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:114181800-114183000	Enhancers	Primary B cells from cord blood	blood
38	chr6:114181800-114183000	Active TSS	Fetal Stomach	stomach
39	chr6:114181800-114183200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:114181800-114183400	Transcr. at gene 5' and 3'	Osteobl	bone
41	chr6:114181800-114183600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
42	chr6:114181800-114183600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
43	chr6:114181800-114184000	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr6:114181800-114184200	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr6:114181800-114184200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:114181800-114186000	Weak transcription	Lung	lung
47	chr6:114181800-114193200	Weak transcription	Liver	Liver
48	chr6:114181800-114194200	Weak transcription	Pancreas	Pancrea
49	chr6:114182000-114182800	Weak transcription	Brain Angular Gyrus	brain
50	chr6:114182000-114182800	Flanking Active TSS	Fetal Brain Male	brain

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