Variant report

Variant	nsv886666
Chromosome Location	chr6:131573433-131666295
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:6)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:2)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:131574679..131577194-chr6:131577773..131580608,2	MCF-7	breast:
2	chr6:131574679..131577194-chr6:131577773..131580608,2	MCF-7	breast:
3	chr6:131591823..131594173-chr6:131613820..131615536,2	K562	blood:
4	chr6:131591823..131594173-chr6:131613820..131615536,2	K562	blood:
5	chr6:131520473..131521448-chr6:131582980..131583832,4	MCF-7	breast:
6	chr6:131614360..131616508-chr6:131705803..131707677,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AKAP7-1	chr6:131630402-131630414	NONHSAT114915
2	lnc-AKAP7-1	chr6:131619214-131619459	NONHSAT114915
3	lnc-MED23-1	chr6:131649280-131649342	NONHSAT114916
4	lnc-MED23-1	chr6:131652426-131652634	NONHSAT114916

No data

(count:2 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	AKAP7	hsa-miR-375	chr6:131604183-131604206
2	AKAP7	hsa-miR-375	chr6:131604029-131604050

Variant related genes	Relation type
ENSG00000118507	chromatin interactions

Extended variants
information (count: 4339 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:4339 , 50 per page) page: 1 2 3 4 5 6 7 ... 87

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3777483	chr6:131573433-131573434	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs183466248	chr6:131573543-131573544	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs35285607	chr6:131573623-131573624	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs574366003	chr6:131573686-131573687	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs535112032	chr6:131573739-131573740	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs140241731	chr6:131573741-131573742	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs187294713	chr6:131573779-131573780	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs564445041	chr6:131573809-131573810	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs9492883	chr6:131573872-131573873	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs192139932	chr6:131573910-131573911	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs577385893	chr6:131573931-131573932	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs544763504	chr6:131573932-131573933	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs563068629	chr6:131573962-131573963	Enhancers Weak transcription Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs143475802	chr6:131574024-131574025	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs35589154	chr6:131574038-131574039	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs531184889	chr6:131574051-131574052	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs35742185	chr6:131574094-131574095	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs544175568	chr6:131574179-131574180	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs199768342	chr6:131574192-131574193	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs560490927	chr6:131574193-131574194	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs200742770	chr6:131574195-131574196	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs145800958	chr6:131574198-131574199	Weak transcription Enhancers Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs182698978	chr6:131574203-131574204	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs113888160	chr6:131574217-131574218	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs148989639	chr6:131574230-131574231	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs373615668	chr6:131574249-131574250	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs373350938	chr6:131574268-131574269	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs141732607	chr6:131574275-131574276	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs113245590	chr6:131574278-131574279	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs372845132	chr6:131574287-131574288	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs537670898	chr6:131574301-131574302	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs568578587	chr6:131574302-131574303	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs535286750	chr6:131574361-131574362	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs141495149	chr6:131574386-131574387	Weak transcription Enhancers Active TSS Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs549930434	chr6:131574412-131574413	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs10457569	chr6:131574487-131574488	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs150573204	chr6:131574491-131574492	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs79750126	chr6:131574497-131574498	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs186701602	chr6:131574504-131574505	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs539387943	chr6:131574507-131574508	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs190425944	chr6:131574618-131574619	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs576066191	chr6:131574622-131574623	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs112574277	chr6:131574652-131574653	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs370031777	chr6:131574699-131574700	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs182647659	chr6:131574726-131574727	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs556787578	chr6:131574792-131574793	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs575038493	chr6:131574793-131574794	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs371189606	chr6:131574800-131574801	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs542548168	chr6:131574803-131574804	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs560733373	chr6:131574821-131574822	Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

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
Colorectal cancer	16272173	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
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
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	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
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21785460	CNVD
Kartagener syndrome	16639409	CNVD
Breast cancer	17133270	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
Myelofibrosis	22110671	CNVD
Renal cell carcinoma	18592004	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:1293 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131563000-131580000	Weak transcription	Small Intestine	intestine
2	chr6:131566800-131576200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr6:131567200-131576400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr6:131571000-131573600	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr6:131571000-131573600	Active TSS	Duodenum Mucosa	Duodenum
6	chr6:131571000-131573800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr6:131571000-131574000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:131571000-131574400	Active TSS	Brain Germinal Matrix	brain
9	chr6:131571000-131574400	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr6:131571000-131574400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr6:131571000-131574400	Active TSS	Fetal Intestine Large	intestine
12	chr6:131571200-131573600	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr6:131571200-131573800	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr6:131571200-131574000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr6:131571200-131574000	Active TSS	Brain Hippocampus Middle	brain
16	chr6:131571200-131574200	Active TSS	Brain Cingulate Gyrus	brain
17	chr6:131571200-131574200	Active TSS	Fetal Brain Female	brain
18	chr6:131571200-131574400	Active TSS	Brain Angular Gyrus	brain
19	chr6:131571200-131575200	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr6:131571600-131573800	Enhancers	Colon Smooth Muscle	Colon
21	chr6:131571600-131574000	Active TSS	H9 Cell Line	embryonic stem cell
22	chr6:131571800-131574200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:131571800-131574200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr6:131571800-131576600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr6:131571800-131576600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr6:131571800-131580000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr6:131571800-131583000	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr6:131571800-131583200	Weak transcription	Aorta	Aorta
29	chr6:131571800-131587200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:131571800-131591400	Weak transcription	Psoas Muscle	Psoas
31	chr6:131571800-131592600	Weak transcription	Fetal Thymus	thymus
32	chr6:131571800-131596800	Weak transcription	Lung	lung
33	chr6:131571800-131603000	Weak transcription	Esophagus	oesophagus
34	chr6:131571800-131614400	Weak transcription	Gastric	stomach
35	chr6:131572000-131573800	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr6:131572000-131573800	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr6:131572000-131574400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr6:131572200-131573800	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr6:131572200-131576600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr6:131572200-131576600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr6:131572200-131613000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr6:131572400-131573600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr6:131572400-131573600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr6:131572400-131573800	Enhancers	Fetal Lung	lung
45	chr6:131572400-131574200	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr6:131572400-131575000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:131572400-131576200	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr6:131572400-131576200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr6:131572600-131573600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
50	chr6:131572600-131573800	Enhancers	Dnd41	blood

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