Variant report

Variant	nsv886845
Chromosome Location	chr6:162444297-162541706
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:66689243..66689865-chr6:162514238..162514739,2	MCF-7	breast:
2	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
3	chr6:162436271..162438282-chr6:162512437..162514970,2	K562	blood:
4	chr6:162525404..162526979-chr6:162529518..162531928,2	MCF-7	breast:
5	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
6	chr6:162500411..162502828-chr6:162504694..162507642,2	K562	blood:
7	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:
8	chr6:162470841..162473078-chr6:162475586..162477804,2	MCF-7	breast:

No data

Extended variants
information (count: 3357 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:3357 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2097130	chr6:162444297-162444298	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs556271145	chr6:162444311-162444312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78993593	chr6:162444326-162444327	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs2105723	chr6:162444347-162444348	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs370319990	chr6:162444369-162444370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs555553645	chr6:162444382-162444383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572658391	chr6:162444402-162444403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs374324342	chr6:162444429-162444430	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs116838396	chr6:162444445-162444446	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs386708018	chr6:162444451-162444452	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs181126704	chr6:162444452-162444453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs76030633	chr6:162444481-162444482	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563401117	chr6:162444482-162444483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs529020416	chr6:162444513-162444514	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs549164690	chr6:162444518-162444519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs530392604	chr6:162444543-162444544	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs559296674	chr6:162444550-162444551	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs117451715	chr6:162444560-162444561	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551435484	chr6:162444563-162444564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs73590311	chr6:162444564-162444565	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs186996442	chr6:162444568-162444569	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs548606217	chr6:162444576-162444577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs549782378	chr6:162444586-162444587	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs367734770	chr6:162444601-162444602	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs112038167	chr6:162444624-162444625	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569776800	chr6:162444647-162444648	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs535563142	chr6:162444683-162444684	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2097129	chr6:162444700-162444701	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs2097128	chr6:162444725-162444726	ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs114063467	chr6:162444750-162444751	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs369872676	chr6:162444806-162444807	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs115071986	chr6:162444822-162444823	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs10223525	chr6:162444840-162444841	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs543414412	chr6:162444864-162444865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs563288530	chr6:162444952-162444953	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs191385586	chr6:162444982-162444983	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201183182	chr6:162445012-162445013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs71544923	chr6:162445018-162445019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs146854399	chr6:162445040-162445041	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs184229976	chr6:162445043-162445044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs188732272	chr6:162445095-162445096	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs551629852	chr6:162445136-162445137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs112058641	chr6:162445180-162445181	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs60482118	chr6:162445193-162445194	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs549720695	chr6:162445207-162445208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs569717798	chr6:162445219-162445220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs529343401	chr6:162445220-162445221	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs111595639	chr6:162445226-162445227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs71004074	chr6:162445227-162445228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs398003248	chr6:162445249-162445250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

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
Cancer	20164919	CNVD
Ovarian cancer	21720365	CNVD
Bipolar disorder	19114987	CNVD
Parkinson disease	21829596	CNVD

Chromatin state (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:162438000-162444600	Weak transcription	Pancreas	Pancrea
2	chr6:162444200-162444600	Enhancers	Stomach Mucosa	stomach
3	chr6:162444600-162444800	ZNF genes & repeats	Pancreas	Pancrea
4	chr6:162444600-162448200	Weak transcription	Stomach Mucosa	stomach
5	chr6:162444800-162452200	Weak transcription	Pancreas	Pancrea
6	chr6:162446400-162449800	Weak transcription	Ovary	ovary
7	chr6:162446600-162447000	Enhancers	Fetal Brain Male	brain
8	chr6:162447000-162447200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr6:162447000-162448600	Enhancers	Duodenum Mucosa	Duodenum
10	chr6:162447000-162448600	Enhancers	Fetal Intestine Small	intestine
11	chr6:162447200-162447800	Enhancers	Fetal Kidney	kidney
12	chr6:162447200-162447800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr6:162447600-162448400	Active TSS	Liver	Liver
14	chr6:162447800-162448400	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr6:162448200-162448600	Enhancers	Stomach Mucosa	stomach
16	chr6:162449000-162449200	Enhancers	Pancreatic Islets	Pancreatic Islet
17	chr6:162449800-162450000	Enhancers	Ovary	ovary
18	chr6:162452600-162452800	Enhancers	Right Atrium	heart
19	chr6:162452800-162453800	Weak transcription	Right Atrium	heart
20	chr6:162453400-162454400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:162453400-162454400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:162453400-162454400	Enhancers	NHDF-Ad	bronchial
23	chr6:162453600-162454200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr6:162453800-162454200	Enhancers	Right Atrium	heart
25	chr6:162455400-162456000	Enhancers	NHEK	skin
26	chr6:162466800-162467000	Enhancers	Pancreas	Pancrea
27	chr6:162467000-162471800	Weak transcription	Pancreas	Pancrea
28	chr6:162470200-162479400	Weak transcription	Ovary	ovary
29	chr6:162471600-162476600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr6:162471800-162473000	Enhancers	Pancreas	Pancrea
31	chr6:162471800-162476800	Weak transcription	Right Ventricle	heart
32	chr6:162472200-162474800	Weak transcription	Brain Substantia Nigra	brain
33	chr6:162472400-162472600	Enhancers	Fetal Brain Male	brain
34	chr6:162473000-162475000	Weak transcription	Pancreas	Pancrea
35	chr6:162473600-162474400	Enhancers	Fetal Brain Female	brain
36	chr6:162474000-162475200	Enhancers	Liver	Liver
37	chr6:162474000-162478000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr6:162474200-162474400	Enhancers	Left Ventricle	heart
39	chr6:162474200-162474600	Enhancers	Fetal Brain Male	brain
40	chr6:162474400-162479600	Weak transcription	Left Ventricle	heart
41	chr6:162475000-162476000	Enhancers	Pancreas	Pancrea
42	chr6:162475200-162478200	Weak transcription	Liver	Liver
43	chr6:162476000-162476400	Weak transcription	Pancreas	Pancrea
44	chr6:162476200-162477400	Enhancers	A549	lung
45	chr6:162476400-162477600	Enhancers	Right Atrium	heart
46	chr6:162476400-162478200	Enhancers	Pancreas	Pancrea
47	chr6:162476600-162476800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr6:162476600-162476800	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr6:162476600-162477000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr6:162476600-162478200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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