Variant report

Variant	nsv5252
Chromosome Location	chr6:33919447-33955380
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:79)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:79 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr6:33950169..33953263-chr6:33992738..33996651,3	MCF-7	breast:
2	chr6:33950969..33952897-chr6:33982035..33984748,2	MCF-7	breast:
3	chr6:33955303..33957322-chr6:33962514..33965301,2	MCF-7	breast:
4	chr6:33913064..33919897-chr6:33920862..33926806,7	K562	blood:
5	chr6:33927135..33929143-chr6:33944981..33947651,2	MCF-7	breast:
6	chr6:33926024..33927016-chr6:34122602..34123227,2	K562	blood:
7	chr6:33950006..33953424-chr6:33953660..33956188,4	MCF-7	breast:
8	chr1:149223018..149225261-chr6:33955035..33956642,2	MCF-7	breast:
9	chr6:33819352..33820057-chr6:33935715..33936362,3	MCF-7	breast:
10	chr6:33935685..33937732-chr6:33955927..33958373,2	MCF-7	breast:
11	chr6:33935283..33936415-chr6:33994982..33996031,6	MCF-7	breast:
12	chr6:33926201..33926997-chr6:33995108..33996009,2	K562	blood:
13	chr6:33949387..33952210-chr6:33976203..33979025,2	MCF-7	breast:
14	chr6:33935782..33936335-chr6:33955656..33956622,2	MCF-7	breast:
15	chr6:33935012..33937459-chr6:33942472..33944353,2	K562	blood:
16	chr6:33955064..33956285-chr6:33994979..33996133,11	MCF-7	breast:
17	chr6:33950006..33953424-chr6:33953660..33956188,4	MCF-7	breast:
18	chr6:33913064..33919897-chr6:33920862..33926806,7	K562	blood:
19	chr6:33933752..33935770-chr6:33949390..33952772,4	MCF-7	breast:
20	chr6:33955139..33956872-chr6:34116737..34118961,2	MCF-7	breast:
21	chr6:33919250..33921645-chr6:33946559..33949108,2	K562	blood:
22	chr6:33955225..33955804-chr6:33994302..33994872,2	MCF-7	breast:
23	chr6:33928847..33930667-chr6:33930699..33932351,2	K562	blood:
24	chr6:33755307..33757160-chr6:33955192..33957032,2	MCF-7	breast:
25	chr6:33738726..33740587-chr6:33954183..33956519,2	MCF-7	breast:
26	chr6:33925599..33928278-chr6:33928837..33930807,2	K562	blood:
27	chr6:33912394..33915055-chr6:33946729..33949481,2	MCF-7	breast:
28	chr6:33928847..33930667-chr6:33930699..33932351,2	K562	blood:
29	chr6:33934133..33938274-chr6:33943444..33948778,6	MCF-7	breast:
30	chr6:33928944..33932796-chr6:33933214..33936694,5	K562	blood:
31	chr6:33927135..33929143-chr6:33944981..33947651,2	MCF-7	breast:
32	chr6:33919883..33922480-chr6:33924256..33927487,4	MCF-7	breast:
33	chr6:33809219..33810769-chr6:33950586..33952486,2	MCF-7	breast:
34	chr6:33819661..33820304-chr6:33935521..33936307,2	MCF-7	breast:
35	chr6:33753276..33755761-chr6:33954529..33957138,2	MCF-7	breast:
36	chr6:33947280..33948790-chr6:33952742..33955056,2	MCF-7	breast:
37	chr6:33589305..33592124-chr6:33949466..33952412,2	MCF-7	breast:
38	chr6:33950339..33952578-chr6:33967729..33969363,2	MCF-7	breast:
39	chr6:33922283..33924139-chr6:33925497..33927060,2	K562	blood:
40	chr6:33954692..33956757-chr6:33973317..33975543,2	MCF-7	breast:
41	chr6:33934133..33938274-chr6:33943444..33948778,6	MCF-7	breast:
42	chr6:33919250..33921645-chr6:33946559..33949108,2	K562	blood:
43	chr6:33918842..33920880-chr6:33924191..33925775,2	K562	blood:
44	chr6:33954924..33956469-chr6:33995015..33996063,15	MCF-7	breast:
45	chr6:33916864..33919171-chr6:33930801..33933029,2	MCF-7	breast:
46	chr6:33953959..33957473-chr6:34112349..34115598,3	MCF-7	breast:
47	chr6:33928175..33930963-chr6:33993122..33995355,2	MCF-7	breast:
48	chr6:33942809..33944696-chr6:33949318..33951158,2	MCF-7	breast:
49	chr6:33955318..33960116-chr6:33987348..33992002,6	MCF-7	breast:
50	chr6:33935012..33937286-chr6:33941317..33943972,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000161904	chromatin interactions
ENSG00000124493	chromatin interactions
ENSG00000206737	chromatin interactions
ENSG00000221697	chromatin interactions

Extended variants
information (count: 1523 )
Associated
traits (count: 104 )

Variant overlapped rSNPs/rCNVs (count:1523 , 50 per page) page: 1 2 3 4 5 6 7 ... 31

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536053108	chr6:33919453-33919454	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
2	rs375101578	chr6:33919458-33919459	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
3	rs569524645	chr6:33919512-33919513	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
4	rs182066019	chr6:33919516-33919517	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
5	rs9296106	chr6:33919540-33919541	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs149546923	chr6:33919542-33919543	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
7	rs9296107	chr6:33919549-33919550	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs553972489	chr6:33919554-33919555	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs540193043	chr6:33919585-33919586	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
10	rs144152368	chr6:33919594-33919595	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
11	rs542765068	chr6:33919621-33919622	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs138648739	chr6:33919623-33919624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs531966768	chr6:33919644-33919645	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs544096904	chr6:33919648-33919649	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs565614027	chr6:33919652-33919653	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs2499752	chr6:33919716-33919717	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs9469645	chr6:33919727-33919728	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs386700010	chr6:33919733-33919734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs9296109	chr6:33919735-33919736	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs569484850	chr6:33919743-33919744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536862587	chr6:33919747-33919748	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs552033165	chr6:33919774-33919775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs570461744	chr6:33919808-33919809	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs538646836	chr6:33919828-33919829	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs76201410	chr6:33919844-33919845	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs200919883	chr6:33919856-33919857	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs530934865	chr6:33919884-33919885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184770975	chr6:33919953-33919954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs141763475	chr6:33919964-33919965	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs73420643	chr6:33919974-33919975	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs189588933	chr6:33919993-33919994	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs73420644	chr6:33919994-33919995	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs180780587	chr6:33920012-33920013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs9461935	chr6:33920018-33920019	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs577504473	chr6:33920028-33920029	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs146328816	chr6:33920034-33920035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201376062	chr6:33920064-33920065	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs559254361	chr6:33920065-33920066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs34055659	chr6:33920113-33920114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs529678828	chr6:33920124-33920125	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs547846471	chr6:33920133-33920134	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs563077265	chr6:33920165-33920166	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs73420647	chr6:33920173-33920174	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs551994592	chr6:33920183-33920184	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs56286667	chr6:33920194-33920195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs73420648	chr6:33920233-33920234	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs534872237	chr6:33920274-33920275	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs185489729	chr6:33920297-33920298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs566033563	chr6:33920313-33920314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs12111313	chr6:33920336-33920337	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:104)

Disease	PMID	Source
Follicular lymphoma	20505157	CNVD
Glioblastoma multiforme	21080181	CNVD
Ewing''s sarcoma	21437220	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Leukemia	21518781	CNVD
Cancer	21637783	CNVD
Facial dysmorphism	22105932	CNVD
Medulloblastoma	21979893	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Endometrial cancer	22040021	CNVD
Acute myeloid leukemia	16864856	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Bladder cancer	19088036	CNVD
Wilms tumour	21544195	CNVD
Uveal melanoma	21693616	CNVD
Biliary cancer	19435499	CNVD
Malaria	21533027	CNVD
Retinoblastoma	19183342	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	21858162	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	21448237	CNVD
Melanoma	18172304	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Hepatocellular carcinoma	16750200	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Systemic lupus erythematosus	17503323	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Gastric cancer	17908304	CNVD
Metanephric adenoma	20802469	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Schizophrenia	19571808	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
abnormal development	18461090	CNVD
Breast cancer	16397240	CNVD
Retinoblastoma	22278416	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Systemic lupus erythematosus	20877625	CNVD
Cleidocranial dysplasia	18696259	CNVD
Holoprosencephaly	21359414	CNVD
Liposarcoma	21253554	CNVD
Uveal melanoma	20484589	CNVD
Fibroblasts	20926602	CNVD
Systemic lupus erythematosus	19279649	CNVD
Retinoblastoma	16790693	CNVD
Acute myocardial infarction	18032375	CNVD
Renal cell carcinoma	19150565	CNVD
Systemic lupus erythematosus	19591781	CNVD
Attention deficit hyperactivity disorder	19287146	CNVD
Autism	19287146	CNVD
Erythema nodosum in leprosy	19287146	CNVD
Henoch-schoenlein purpura	19287146	CNVD
Liver cirrhosis	19287146	CNVD
Systemic lupus erythematosus	19287146	CNVD
Autoimmune disease	19135723	CNVD
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	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
Cancer	22183965	CNVD
Melanoma	22183965	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Glioblastoma multiforme	21138945	CNVD
Breast cancer	21364760	CNVD
Urothelial carcinoma	21177765	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Myelofibrosis	22110671	CNVD
Liver carcinoma	19366792	CNVD
Chronic lymphocytic leukemia	22228453	CNVD

Chromatin state (count:327 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33917800-33919600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:33917800-33919600	Enhancers	Fetal Intestine Small	intestine
3	chr6:33917800-33920000	Enhancers	Fetal Intestine Large	intestine
4	chr6:33918200-33919600	Enhancers	H1 Cell Line	embryonic stem cell
5	chr6:33918200-33919600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:33918800-33919600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:33918800-33924400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr6:33919200-33919600	Bivalent Enhancer	Right Ventricle	heart
9	chr6:33919200-33926200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr6:33919400-33920600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr6:33919600-33920600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr6:33919600-33922200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr6:33919600-33925400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:33920400-33920600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr6:33920600-33920800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr6:33920600-33920800	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr6:33920600-33920800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
18	chr6:33920600-33921000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr6:33920600-33921400	Enhancers	Fetal Brain Male	brain
20	chr6:33920600-33925400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr6:33920800-33922200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr6:33921000-33925400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr6:33922200-33922400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr6:33922200-33922600	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr6:33922200-33922600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr6:33922200-33922600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:33922400-33922600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr6:33922600-33924000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr6:33922600-33924200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:33922600-33925400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr6:33922800-33925400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr6:33924000-33926200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr6:33924200-33924800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:33924400-33924600	Enhancers	H9 Cell Line	embryonic stem cell
35	chr6:33924600-33925400	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr6:33924600-33927800	Enhancers	Fetal Brain Female	brain
37	chr6:33924800-33925200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:33924800-33930000	Enhancers	Fetal Brain Male	brain
39	chr6:33925200-33925400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:33925200-33927400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr6:33925200-33928600	Enhancers	Brain Germinal Matrix	brain
42	chr6:33925400-33925600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr6:33925400-33926200	Enhancers	H9 Cell Line	embryonic stem cell
44	chr6:33925400-33926400	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr6:33925400-33926400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr6:33925400-33926600	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr6:33925400-33926800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr6:33925400-33926800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr6:33925400-33926800	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr6:33925400-33927000	Enhancers	H1 Cell Line	embryonic stem cell

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