Variant report

Variant	nsv886742
Chromosome Location	chr6:145269757-145376903
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:145313866..145316779-chr6:145321173..145322881,2	MCF-7	breast:
2	chr6:145281410..145283107-chr6:145284584..145286778,2	K562	blood:
3	chr6:145353179..145355811-chr6:145521442..145523143,2	K562	blood:
4	chr6:145271887..145272387-chr9:130213431..130213993,2	HCT-116	colon:
5	chr6:145316064..145318663-chr6:145319154..145322013,2	MCF-7	breast:
6	chr6:145316794..145319554-chr6:145320560..145322113,2	K562	blood:
7	chr6:145316064..145318663-chr6:145319154..145322013,2	MCF-7	breast:
8	chr6:145313866..145316779-chr6:145321173..145322881,2	MCF-7	breast:
9	chr6:145338386..145339998-chr6:145346389..145348877,2	K562	blood:
10	chr6:145345034..145347035-chr6:145367546..145369741,2	K562	blood:
11	chr6:145365029..145367314-chr6:145367945..145370430,2	K562	blood:
12	chr6:144906099..144907163-chr6:145349098..145349929,4	MCF-7	breast:
13	chr6:145310133..145312483-chr6:145315397..145316971,2	MCF-7	breast:
14	chr6:145349488..145350116-chr6:145535389..145536274,2	MCF-7	breast:
15	chr6:145316794..145319554-chr6:145320560..145322113,2	K562	blood:
16	chr6:145358735..145362713-chr6:145368471..145370231,3	K562	blood:
17	chr6:145365029..145367314-chr6:145367945..145370430,2	K562	blood:
18	chr6:145335244..145337081-chr6:145340387..145343297,2	K562	blood:
19	chr6:145358735..145362713-chr6:145368471..145370231,3	K562	blood:
20	chr6:145311761..145313363-chr6:145317514..145320282,2	MCF-7	breast:
21	chr6:145310133..145312483-chr6:145315397..145316971,2	MCF-7	breast:
22	chr6:145310448..145311952-chr6:145321899..145324314,2	K562	blood:
23	chr6:145311761..145313363-chr6:145317514..145320282,2	MCF-7	breast:
24	chr6:145338386..145339998-chr6:145346389..145348877,2	K562	blood:
25	chr6:144906028..144907293-chr6:145349130..145350022,4	MCF-7	breast:
26	chr6:145335244..145337081-chr6:145340387..145343297,2	K562	blood:
27	chr6:145281410..145283107-chr6:145284584..145286778,2	K562	blood:
28	chr6:145310448..145311952-chr6:145321899..145324314,2	K562	blood:
29	chr6:145345034..145347035-chr6:145367546..145369741,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000197958	chromatin interactions
ENSG00000148356	chromatin interactions

Extended variants
information (count: 3460 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:3460 , 50 per page) page: 1 2 3 4 5 6 7 ... 70

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1416297	chr6:145269757-145269758	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs76667470	chr6:145269816-145269817	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs544657016	chr6:145269905-145269906	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs115136299	chr6:145269923-145269924	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs373950310	chr6:145269925-145269926	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
6	rs569719719	chr6:145269987-145269988	Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs7768827	chr6:145271827-145271828	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs113509752	chr6:145271878-145271879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547414517	chr6:145271890-145271891	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs148626979	chr6:145271899-145271900	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs189133944	chr6:145271957-145271958	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs549275998	chr6:145271960-145271961	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs567881675	chr6:145271978-145271979	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs538295667	chr6:145271997-145271998	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs7769009	chr6:145272028-145272029	Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs60949369	chr6:145272040-145272041	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs533385569	chr6:145272056-145272057	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs538654837	chr6:145272123-145272124	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs549958343	chr6:145272185-145272186	Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs554168157	chr6:145272249-145272250	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs181458849	chr6:145272302-145272303	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs542926420	chr6:145272306-145272307	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs186555546	chr6:145272333-145272334	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs147712103	chr6:145272335-145272336	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs535173959	chr6:145272344-145272345	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs575839573	chr6:145272352-145272353	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs543252534	chr6:145272383-145272384	Enhancers Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs564633087	chr6:145272413-145272414	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs573549242	chr6:145272458-145272459	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577810438	chr6:145272468-145272469	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs532103498	chr6:145272503-145272504	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs191361618	chr6:145272509-145272510	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7773947	chr6:145272589-145272590	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs527950064	chr6:145272622-145272623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549654639	chr6:145272639-145272640	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs567820883	chr6:145272702-145272703	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs116325410	chr6:145272703-145272704	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529406364	chr6:145272772-145272773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs550444796	chr6:145272807-145272808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs560300513	chr6:145272810-145272811	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs539159704	chr6:145272830-145272831	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs553848918	chr6:145272865-145272866	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs566090687	chr6:145272878-145272879	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536114357	chr6:145272898-145272899	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554431455	chr6:145272902-145272903	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370859163	chr6:145272907-145272908	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs186097995	chr6:145272920-145272921	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558363190	chr6:145273038-145273039	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs11962723	chr6:145273074-145273075	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs189637894	chr6:145273101-145273102	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:76)

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
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
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
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Burkitt''s lymphoma	18698080	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
Renal cell carcinoma	18592004	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Endocrine pancreatic tumor	17914106	CNVD
Soft tissue tumor	16732325	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD

Chromatin state (count:526 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:145268800-145269800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr6:145269600-145269800	Enhancers	Pancreas	Pancrea
3	chr6:145269800-145270000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr6:145271800-145274200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr6:145272000-145272200	Enhancers	H1 Cell Line	embryonic stem cell
6	chr6:145272000-145272200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:145272000-145272200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr6:145272000-145273400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:145272000-145274200	Enhancers	H9 Cell Line	embryonic stem cell
10	chr6:145272000-145274200	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr6:145272000-145275400	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr6:145272000-145275400	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr6:145272000-145275800	Enhancers	ES-I3 Cell Line	embryonic stem cell
14	chr6:145272200-145272600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:145272200-145272800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:145272200-145273200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr6:145272200-145273200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr6:145272200-145274400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr6:145272200-145274400	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr6:145272200-145275400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr6:145272600-145272800	Enhancers	Osteobl	bone
22	chr6:145272600-145275000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:145272800-145273400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:145272800-145274400	Weak transcription	Osteobl	bone
25	chr6:145273200-145273400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr6:145273200-145273400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr6:145273200-145274200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr6:145273400-145275000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:145273400-145275000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:145273400-145275600	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr6:145274000-145275800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:145274200-145275400	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr6:145274200-145275400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr6:145274200-145277000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr6:145274200-145280000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr6:145274400-145274800	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr6:145274400-145276800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr6:145274400-145279600	Enhancers	Osteobl	bone
39	chr6:145274600-145275000	Enhancers	Muscle Satellite Cultured Cells	--
40	chr6:145274600-145275600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr6:145274600-145279000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:145274800-145275600	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr6:145274800-145275600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr6:145274800-145275600	Enhancers	NHDF-Ad	bronchial
45	chr6:145274800-145275800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr6:145274800-145275800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr6:145274800-145275800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:145274800-145275800	Enhancers	HMEC	breast
49	chr6:145274800-145275800	Enhancers	NHEK	skin
50	chr6:145274800-145276400	Enhancers	HSMMtube	muscle

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