Variant report

Variant	nsv481750
Chromosome Location	chr6:161850976-161996586
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:49)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:49 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:161964543..161966481-chr6:161967748..161969351,2	K562	blood:
2	chr6:161848154..161849846-chr6:161859403..161861110,2	MCF-7	breast:
3	chr6:161920614..161923541-chr6:161940128..161942185,2	K562	blood:
4	chr6:161966825..161970007-chr6:161974073..161976606,3	K562	blood:
5	chr5:153090609..153093589-chr6:161855798..161858427,3	MCF-7	breast:
6	chr6:161917184..161919756-chr6:161920329..161923023,2	K562	blood:
7	chr6:161954204..161956477-chr6:161958726..161961716,2	K562	blood:
8	chr6:161948248..161953523-chr6:161953771..161956538,5	K562	blood:
9	chr6:161855024..161858360-chr6:161858723..161860898,4	MCF-7	breast:
10	chr6:161966825..161970007-chr6:161974073..161976606,3	K562	blood:
11	chr6:161906066..161907970-chr6:161910670..161913449,2	K562	blood:
12	chr6:161855223..161857273-chr6:161905432..161907491,2	MCF-7	breast:
13	chr6:161826891..161829319-chr6:161893488..161895593,2	K562	blood:
14	chr6:161814672..161815385-chr6:161919205..161920148,2	MCF-7	breast:
15	chr3:161087670..161090609-chr6:161855286..161856788,2	MCF-7	breast:
16	chr6:161850736..161851659-chr6:161919208..161919887,3	K562	blood:
17	chr6:161864849..161867369-chr6:162020785..162023410,2	K562	blood:
18	chr6:161954204..161956477-chr6:161958726..161961716,2	K562	blood:
19	chr6:161815002..161815512-chr6:161919264..161919910,2	K562	blood:
20	chr6:161827499..161830369-chr6:161855859..161857703,2	MCF-7	breast:
21	chr6:161948248..161953523-chr6:161953771..161956538,5	K562	blood:
22	chr6:161944005..161945740-chr6:161956110..161958693,2	MCF-7	breast:
23	chr6:161872071..161873752-chr6:161879299..161881799,2	K562	blood:
24	chr6:161920614..161923541-chr6:161940128..161942185,2	K562	blood:
25	chr6:161845580..161847353-chr6:161848998..161851271,2	MCF-7	breast:
26	chr6:161859122..161861758-chr6:161866811..161869668,2	MCF-7	breast:
27	chr6:161855024..161858360-chr6:161858723..161860898,4	MCF-7	breast:
28	chr6:161872071..161873752-chr6:161879299..161881799,2	K562	blood:
29	chr6:161850736..161851659-chr6:161919208..161919887,3	K562	blood:
30	chr6:161917184..161919756-chr6:161920329..161923023,2	K562	blood:
31	chr6:161962166..161963929-chr6:161965968..161968206,2	K562	blood:
32	chr6:161874908..161877099-chr6:161907040..161908685,2	K562	blood:
33	chr6:161839408..161840069-chr6:161919484..161920171,3	K562	blood:
34	chr6:161909061..161911218-chr6:161914313..161915879,2	K562	blood:
35	chr6:161965795..161968097-chr6:161969436..161971580,2	K562	blood:
36	chr6:161850853..161851797-chr6:161918921..161919717,2	MCF-7	breast:
37	chr6:161962166..161963929-chr6:161965968..161968206,2	K562	blood:
38	chr6:161909061..161911218-chr6:161914313..161915879,2	K562	blood:
39	chr6:161839144..161840001-chr6:161919199..161919993,2	MCF-7	breast:
40	chr6:161860070..161861572-chr6:161862140..161863792,2	MCF-7	breast:
41	chr6:161944005..161945740-chr6:161956110..161958693,2	MCF-7	breast:
42	chr6:161906066..161907970-chr6:161910670..161913449,2	K562	blood:
43	chr6:161874908..161877099-chr6:161907040..161908685,2	K562	blood:
44	chr6:161850853..161851797-chr6:161918921..161919717,2	MCF-7	breast:
45	chr6:161860070..161861572-chr6:161862140..161863792,2	MCF-7	breast:
46	chr6:161964543..161966481-chr6:161967748..161969351,2	K562	blood:
47	chr6:161855223..161857273-chr6:161905432..161907491,2	MCF-7	breast:
48	chr6:161965795..161968097-chr6:161969436..161971580,2	K562	blood:
49	chr6:161859122..161861758-chr6:161866811..161869668,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AGPAT4-2	chr6:161984667-161986399	NONHSAT115940

No data

Variant related genes	Relation type
ENSG00000196542	chromatin interactions

Extended variants
information (count: 5285 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:5285 , 50 per page) page: 1 2 3 4 5 6 7 ... 106

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563726029	chr6:161850981-161850982	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs115351532	chr6:161851102-161851103	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs550059643	chr6:161851104-161851105	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs541688965	chr6:161851145-161851146	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs570284452	chr6:161851155-161851156	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557143693	chr6:161851156-161851157	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs368483307	chr6:161851157-161851158	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs4263565	chr6:161851164-161851165	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs73606952	chr6:161851184-161851185	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs558323844	chr6:161851199-161851200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs377691806	chr6:161851220-161851221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs571661985	chr6:161851224-161851225	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs537393696	chr6:161851249-161851250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs367888550	chr6:161851267-161851268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs576250995	chr6:161851285-161851286	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs370333974	chr6:161851321-161851322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs371680426	chr6:161851329-161851330	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs4282384	chr6:161851337-161851338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs4437447	chr6:161851344-161851345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs188230899	chr6:161851366-161851367	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs148606095	chr6:161851378-161851379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563886698	chr6:161851384-161851385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532867297	chr6:161851399-161851400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs542974752	chr6:161851436-161851437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs142079856	chr6:161851455-161851456	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs529567525	chr6:161851501-161851502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs549443091	chr6:161851504-161851505	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113986966	chr6:161851510-161851511	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192924592	chr6:161851568-161851569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs144955030	chr6:161851574-161851575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs370443407	chr6:161851578-161851579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs571728635	chr6:161851596-161851597	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs4235929	chr6:161851597-161851598	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs550865299	chr6:161851607-161851608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185101445	chr6:161851618-161851619	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567582069	chr6:161851619-161851620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs188871036	chr6:161851628-161851629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555415228	chr6:161851629-161851630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs371054308	chr6:161851644-161851645	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534466496	chr6:161851648-161851649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs537261184	chr6:161851655-161851656	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557542900	chr6:161851658-161851659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192369265	chr6:161851691-161851692	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543139778	chr6:161851696-161851697	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs6455729	chr6:161851704-161851705	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs573593719	chr6:161851705-161851706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543299782	chr6:161851712-161851713	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs184634794	chr6:161851715-161851716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577292948	chr6:161851716-161851717	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs376694104	chr6:161851719-161851720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

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
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
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
Gastric cancer	17908304	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
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Burkitt''s lymphoma	19759907	CNVD
Esophageal cancer	21851588	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Breast cancer	17133270	CNVD
Testicular germ cell tumor	18059402	CNVD
Developmental delay	21147756	CNVD
Chordoma	18071362	CNVD
Myelofibrosis	22110671	CNVD
Autism	22241247	CNVD
Breast cancer	16397240	CNVD
Atherosclerosis	21956041	CNVD
Maculopathy	20981449	CNVD
Retinoblastoma	22278416	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Ovarian cancer	20844748	CNVD
Uveal melanoma	20484589	CNVD
Glioblastoma multiforme	19435819	CNVD
Astrocytoma	16205629	CNVD
Parkinson disease	17160897	CNVD
Cancer	20164920	CNVD
Breast cancer	22522925	CNVD
Schizophrenia	20838587	CNVD
Early-onset parkinson disease	21993715	CNVD
Glioblastoma	18772890	CNVD
Pancreatic cancer	20981101	CNVD
Autism	21360662	CNVD
Melanoma	20877625	CNVD
Pancreatic cancer	17952125	CNVD
Intellectual disability	22102821	CNVD
Parkinson disease	0	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:974 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161846200-161855200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr6:161846400-161855200	Weak transcription	HSMM	muscle
3	chr6:161849600-161855200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:161851400-161851600	Enhancers	Adipose Nuclei	Adipose
5	chr6:161851800-161855000	Weak transcription	Adipose Nuclei	Adipose
6	chr6:161854600-161855200	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr6:161854600-161855200	Enhancers	NHDF-Ad	bronchial
8	chr6:161854600-161856200	Enhancers	NHLF	lung
9	chr6:161854800-161855400	Enhancers	Muscle Satellite Cultured Cells	--
10	chr6:161855000-161855200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:161855000-161855200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:161855000-161855200	Enhancers	Adipose Nuclei	Adipose
13	chr6:161855000-161855200	Enhancers	Stomach Smooth Muscle	stomach
14	chr6:161855000-161855200	Enhancers	HMEC	breast
15	chr6:161855000-161855200	Enhancers	NH-A	brain
16	chr6:161855000-161855600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr6:161855000-161855600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr6:161855000-161855800	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr6:161855000-161856800	Enhancers	Fetal Stomach	stomach
20	chr6:161855200-161855400	Active TSS	Brain Angular Gyrus	brain
21	chr6:161855200-161855400	Enhancers	HSMMtube	muscle
22	chr6:161855200-161855400	Enhancers	Osteobl	bone
23	chr6:161855200-161855600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr6:161855200-161855600	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr6:161855200-161855600	Enhancers	Brain Germinal Matrix	brain
26	chr6:161855200-161855600	Enhancers	Colon Smooth Muscle	Colon
27	chr6:161855200-161855600	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr6:161855200-161855600	Flanking Active TSS	HMEC	breast
29	chr6:161855200-161855800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:161855200-161855800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:161855200-161855800	Active TSS	Brain Cingulate Gyrus	brain
32	chr6:161855200-161855800	Active TSS	Brain Hippocampus Middle	brain
33	chr6:161855200-161855800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr6:161855200-161855800	Flanking Active TSS	HSMM	muscle
35	chr6:161855200-161856000	Active TSS	Brain Anterior Caudate	brain
36	chr6:161855200-161856000	Active TSS	Brain Substantia Nigra	brain
37	chr6:161855200-161856000	Flanking Active TSS	NH-A	brain
38	chr6:161855200-161856000	Flanking Active TSS	NHDF-Ad	bronchial
39	chr6:161855200-161856400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr6:161855200-161856400	Active TSS	Breast Myoepithelial Primary Cells	Breast
41	chr6:161855200-161856400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr6:161855200-161856400	Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr6:161855200-161856600	Active TSS	Psoas Muscle	Psoas
44	chr6:161855200-161856800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:161855200-161856800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:161855200-161856800	Enhancers	Fetal Lung	lung
47	chr6:161855200-161856800	Enhancers	NHEK	skin
48	chr6:161855200-161857000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr6:161855200-161857800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr6:161855200-161858000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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