Variant report

Variant	nsv481930
Chromosome Location	chr6:161815297-161860058
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:28)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:28 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:161831270..161834160-chr6:161834412..161837720,3	K562	blood:
2	chr6:161839144..161840001-chr6:161919199..161919993,2	MCF-7	breast:
3	chr6:161839408..161840069-chr6:161919484..161920171,3	K562	blood:
4	chr6:161848154..161849846-chr6:161859403..161861110,2	MCF-7	breast:
5	chr6:161817088..161818621-chr6:161820651..161823071,2	K562	blood:
6	chr6:161815002..161815512-chr6:161919264..161919910,2	K562	blood:
7	chr6:161855024..161858360-chr6:161858723..161860898,4	MCF-7	breast:
8	chr6:161845580..161847353-chr6:161848998..161851271,2	MCF-7	breast:
9	chr6:161826891..161829319-chr6:161893488..161895593,2	K562	blood:
10	chr6:161836595..161839567-chr6:161842900..161844597,2	K562	blood:
11	chr6:161848154..161849846-chr6:161859403..161861110,2	MCF-7	breast:
12	chr6:161855223..161857273-chr6:161905432..161907491,2	MCF-7	breast:
13	chr6:161836595..161839567-chr6:161842900..161844597,2	K562	blood:
14	chr6:161850736..161851659-chr6:161919208..161919887,3	K562	blood:
15	chr3:161087670..161090609-chr6:161855286..161856788,2	MCF-7	breast:
16	chr6:161827499..161830369-chr6:161855859..161857703,2	MCF-7	breast:
17	chr6:161859122..161861758-chr6:161866811..161869668,2	MCF-7	breast:
18	chr6:161827498..161831035-chr6:161833776..161838096,4	K562	blood:
19	chr6:161845580..161847353-chr6:161848998..161851271,2	MCF-7	breast:
20	chr6:161827498..161831035-chr6:161833776..161838096,4	K562	blood:
21	chr6:161817088..161818621-chr6:161820651..161823071,2	K562	blood:
22	chr6:161850853..161851797-chr6:161918921..161919717,2	MCF-7	breast:
23	chr6:161855024..161858360-chr6:161858723..161860898,4	MCF-7	breast:
24	chr5:153090609..153093589-chr6:161855798..161858427,3	MCF-7	breast:
25	chr6:161814672..161815385-chr6:161919205..161920148,2	MCF-7	breast:
26	chr6:161827499..161830369-chr6:161855859..161857703,2	MCF-7	breast:
27	chr6:161831270..161834160-chr6:161834412..161837720,3	K562	blood:
28	chr6:161813445..161815530-chr6:162115453..162117705,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196542	chromatin interactions

Extended variants
information (count: 1933 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1933 , 50 per page) page: 1 2 3 4 5 6 7 ... 39

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs3924681	chr6:161815315-161815316	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs543439257	chr6:161815339-161815340	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs181976827	chr6:161815368-161815369	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs571847285	chr6:161815389-161815390	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs144639153	chr6:161815392-161815393	Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs148225724	chr6:161815412-161815413	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs36089862	chr6:161815427-161815428	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs528666610	chr6:161815506-161815507	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs551558813	chr6:161815529-161815530	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs3924680	chr6:161815583-161815584	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs141513840	chr6:161815584-161815585	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs550997312	chr6:161815595-161815596	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs569954026	chr6:161815626-161815627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187333304	chr6:161815640-161815641	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs374804816	chr6:161815660-161815661	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs371848090	chr6:161815687-161815688	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs138326014	chr6:161815688-161815689	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs77746831	chr6:161815728-161815729	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs75403136	chr6:161815729-161815730	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs77093892	chr6:161815730-161815731	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557551590	chr6:161815733-161815734	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144049604	chr6:161815747-161815748	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs543047489	chr6:161815765-161815766	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs147329075	chr6:161815772-161815773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs140680802	chr6:161815783-161815784	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542868352	chr6:161815788-161815789	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs559644384	chr6:161815792-161815793	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs528630381	chr6:161815797-161815798	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536251651	chr6:161815824-161815825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs10455885	chr6:161815886-161815887	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs545620217	chr6:161815943-161815944	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565215237	chr6:161815947-161815948	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs6905032	chr6:161815977-161815978	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs144642315	chr6:161815983-161815984	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144720029	chr6:161815985-161815986	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556488826	chr6:161816012-161816013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs180820355	chr6:161816024-161816025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs530134788	chr6:161816070-161816071	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs549272667	chr6:161816114-161816115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs566008743	chr6:161816147-161816148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs113983650	chr6:161816167-161816168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs557973103	chr6:161816182-161816183	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571251424	chr6:161816185-161816186	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs537102700	chr6:161816243-161816244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs114653098	chr6:161816259-161816260	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369016161	chr6:161816261-161816262	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs573265740	chr6:161816291-161816292	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs542234565	chr6:161816348-161816349	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs78449046	chr6:161816364-161816365	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs142160101	chr6:161816402-161816403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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

Chromatin state (count:849 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161780600-161835800	Weak transcription	Right Atrium	heart
2	chr6:161811000-161815400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:161814400-161815600	Enhancers	Psoas Muscle	Psoas
4	chr6:161814400-161817800	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr6:161814600-161815600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr6:161814800-161817800	Enhancers	Brain Germinal Matrix	brain
7	chr6:161815000-161815400	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr6:161815000-161815400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr6:161815000-161815400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:161815000-161815400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr6:161815000-161815400	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr6:161815000-161815400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr6:161815000-161815400	Enhancers	Fetal Kidney	kidney
14	chr6:161815000-161815400	Flanking Active TSS	Fetal Lung	lung
15	chr6:161815000-161815400	Active TSS	Stomach Smooth Muscle	stomach
16	chr6:161815000-161815600	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr6:161815000-161815800	Enhancers	HSMM	muscle
18	chr6:161815200-161815400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr6:161815200-161815400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr6:161815200-161815400	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr6:161815200-161815400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr6:161815200-161815400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr6:161815200-161815400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:161815200-161815400	Enhancers	Duodenum Mucosa	Duodenum
25	chr6:161815200-161815400	Enhancers	Fetal Brain Female	brain
26	chr6:161815200-161815400	Flanking Active TSS	HSMMtube	muscle
27	chr6:161815200-161815400	Flanking Active TSS	K562	blood
28	chr6:161815200-161815400	Flanking Active TSS	NHDF-Ad	bronchial
29	chr6:161815200-161815400	Flanking Active TSS	Osteobl	bone
30	chr6:161815200-161815600	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr6:161815200-161815600	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr6:161815200-161815600	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr6:161815200-161815600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr6:161815200-161815600	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr6:161815200-161815600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr6:161815200-161815600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr6:161815200-161815600	Enhancers	Brain Substantia Nigra	brain
38	chr6:161815200-161815600	Enhancers	Dnd41	blood
39	chr6:161815200-161815600	Enhancers	GM12878-XiMat	blood
40	chr6:161815200-161815600	Enhancers	NH-A	brain
41	chr6:161815200-161815600	Flanking Active TSS	NHEK	skin
42	chr6:161815200-161815600	Enhancers	NHLF	lung
43	chr6:161815200-161815800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr6:161815200-161815800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr6:161815200-161815800	Enhancers	Primary T cells fromperipheralblood	blood
46	chr6:161815200-161815800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr6:161815200-161815800	Enhancers	Primary T helper naive cells from peripheral blood	blood
48	chr6:161815200-161815800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr6:161815200-161815800	Enhancers	Primary T helper cells fromperipheralblood	blood
50	chr6:161815200-161815800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links