Variant report

Variant	nsv1028580
Chromosome Location	chr6:120032073-120095538
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:35)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:35 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:120063304..120064010-chr6:120397825..120398847,3	MCF-7	breast:
2	chr6:120057823..120059788-chr6:120064603..120067177,2	K562	blood:
3	chr6:120031831..120033418-chr6:120034835..120036928,2	MCF-7	breast:
4	chr6:120048345..120051007-chr6:120058358..120060686,2	MCF-7	breast:
5	chr6:120063099..120063972-chr6:120299027..120300018,3	MCF-7	breast:
6	chr6:120059793..120063452-chr6:120063647..120067024,5	K562	blood:
7	chr6:120027751..120029968-chr6:120036794..120039452,2	K562	blood:
8	chr6:120048345..120051007-chr6:120058358..120060686,2	MCF-7	breast:
9	chr6:120049940..120052686-chr6:120053147..120056088,2	MCF-7	breast:
10	chr6:120063102..120064201-chr6:120398484..120399225,3	MCF-7	breast:
11	chr6:119669409..119670950-chr6:120053977..120056480,2	MCF-7	breast:
12	chr6:120059793..120063452-chr6:120063647..120067024,5	K562	blood:
13	chr6:119671503..119673094-chr6:120039219..120042156,2	K562	blood:
14	chr6:120057823..120059788-chr6:120064603..120067177,2	K562	blood:
15	chr6:120063490..120064041-chr6:120699487..120700386,2	MCF-7	breast:
16	chr6:119669713..119671719-chr6:120059776..120062247,2	K562	blood:
17	chr6:119672013..119673018-chr6:120041067..120041943,4	MCF-7	breast:
18	chr6:119468339..119471013-chr6:120060757..120063012,2	MCF-7	breast:
19	chr6:120061952..120063781-chr6:120064184..120066121,2	K562	blood:
20	chr6:120031831..120033418-chr6:120034835..120036928,2	MCF-7	breast:
21	chr6:120033761..120036459-chr6:120036999..120039234,2	MCF-7	breast:
22	chr6:119670566..119673192-chr6:120049560..120051821,2	MCF-7	breast:
23	chr6:119669713..119672817-chr6:120059087..120062247,3	K562	blood:
24	chr6:119671568..119672634-chr6:120040996..120041889,3	MCF-7	breast:
25	chr6:119668779..119670859-chr6:120052634..120055044,2	MCF-7	breast:
26	chr6:120061952..120063781-chr6:120064184..120066121,2	K562	blood:
27	chr6:120077251..120079312-chr6:120082065..120083838,2	MCF-7	breast:
28	chr6:120033761..120036459-chr6:120036999..120039234,2	MCF-7	breast:
29	chr6:120077251..120079312-chr6:120082065..120083838,2	MCF-7	breast:
30	chr6:120049940..120052686-chr6:120053147..120056088,2	MCF-7	breast:
31	chr6:119668797..119671749-chr6:120049914..120051588,2	MCF-7	breast:
32	chr6:120084727..120087812-chr6:120089730..120091489,3	K562	blood:
33	chr6:119669232..119674283-chr6:120058863..120061858,5	MCF-7	breast:
34	chr6:120084727..120087812-chr6:120089730..120091489,3	K562	blood:
35	chr6:120093516..120095597-chr6:120099794..120101469,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000111885	chromatin interactions
ENSG00000111879	chromatin interactions

Extended variants
information (count: 1549 )
Associated
traits (count: 111 )

Variant overlapped rSNPs/rCNVs (count:1549 , 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	rs144677496	chr6:120032405-120032406	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs75284081	chr6:120032419-120032420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs553580566	chr6:120032425-120032426	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138868123	chr6:120032475-120032476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs541139163	chr6:120032492-120032493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs149401086	chr6:120032502-120032503	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs529734631	chr6:120032508-120032509	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs543406037	chr6:120032525-120032526	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs563118992	chr6:120032527-120032528	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs532465084	chr6:120032536-120032537	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374986797	chr6:120032556-120032557	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs192887709	chr6:120032559-120032560	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs565906042	chr6:120032560-120032561	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs78504030	chr6:120032590-120032591	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs118108298	chr6:120034817-120034818	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs145582335	chr6:120034822-120034823	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34891895	chr6:120034855-120034856	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs566136699	chr6:120034859-120034860	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs535057240	chr6:120034972-120034973	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs564578544	chr6:120034989-120034990	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs528545623	chr6:120035092-120035093	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs555255684	chr6:120035095-120035096	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs541274031	chr6:120035107-120035108	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs563947774	chr6:120035108-120035109	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs575189064	chr6:120035156-120035157	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544470523	chr6:120035208-120035209	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs150180084	chr6:120035242-120035243	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs9489780	chr6:120035271-120035272	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs577757743	chr6:120035301-120035302	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs577132189	chr6:120035360-120035361	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs148893452	chr6:120035394-120035395	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs530036144	chr6:120035403-120035404	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs529633715	chr6:120035413-120035414	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529327282	chr6:120035433-120035434	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548164658	chr6:120035438-120035439	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74337188	chr6:120035466-120035467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs74759787	chr6:120035505-120035506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs190416503	chr6:120035602-120035603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs78183805	chr6:120035630-120035631	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs113847693	chr6:120035641-120035642	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs61645186	chr6:120035642-120035643	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs546312731	chr6:120035656-120035657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs146408229	chr6:120035681-120035682	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs551714940	chr6:120035687-120035688	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs113940939	chr6:120035703-120035704	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74823612	chr6:120035719-120035720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs181469706	chr6:120035728-120035729	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs35812121	chr6:120035749-120035750	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs549562047	chr6:120035750-120035751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs537789506	chr6:120035752-120035753	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:111)

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
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Autism	22495311	CNVD
Gastric cancer	17908304	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
Colorectal cancer	16272173	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
T-cell lymphomas	19863542	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
Ependymoma	16718352	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
Prostate cancer	18632612	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Prostate cancer	19242612	CNVD
Glioma	21046410	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Zellweger syndrome	21572526	CNVD
Follicular lymphoma	20505157	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Malignant melanoma	18718029	CNVD
Lung adenocarcinoma	21935476	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Cancer	21183584	CNVD
Developmental delay	19490664	CNVD
Non-muscle invasive bladder neoplasm	19445696	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Burkitt''s lymphoma	18698080	CNVD
Ovarian cancer	21720365	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	16461572	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164920	CNVD
Breast cancer	21364760	CNVD
Chordoma	21602918	CNVD
Kartagener syndrome	16639409	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17133270	CNVD
Follicular lymphoma	18703704	CNVD
Mental retardation	17621639	CNVD
Hypoplastic	20877625	CNVD
Hypotonia	20877625	CNVD
Mental retardation	20877625	CNVD
Microcephaly	20877625	CNVD
brachycephaly	20877625	CNVD
epicanthic folds	20877625	CNVD
micrognathia	20877625	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Metastatic melanoma	18483359	CNVD
Adenoid cystic carcinoma	18698036	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	18698023	CNVD
Mental retardation	18854857	CNVD
Leukemia	18688285	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Liver carcinoma	19366792	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:188 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:120032400-120032600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr6:120034800-120035400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:120035000-120035400	Enhancers	NHEK	skin
4	chr6:120035400-120038000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr6:120035400-120038000	Weak transcription	NHEK	skin
6	chr6:120037800-120038400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr6:120038000-120038200	Enhancers	NHEK	skin
8	chr6:120038000-120038400	Enhancers	H9 Cell Line	embryonic stem cell
9	chr6:120038000-120038400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:120038000-120038400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr6:120038000-120038400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr6:120038000-120038600	Enhancers	ES-I3 Cell Line	embryonic stem cell
13	chr6:120038000-120038600	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr6:120038000-120038600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr6:120038000-120038800	Enhancers	H1 Cell Line	embryonic stem cell
16	chr6:120038000-120039200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:120038000-120039600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr6:120038200-120038600	Weak transcription	NHEK	skin
19	chr6:120038400-120040200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr6:120038600-120039000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr6:120038600-120039200	Enhancers	NHEK	skin
22	chr6:120038600-120048600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr6:120038800-120039800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr6:120039000-120039400	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr6:120039000-120039800	Enhancers	Hela-S3	cervix
26	chr6:120039000-120040200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr6:120039000-120040400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr6:120039200-120039600	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr6:120039200-120039600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr6:120039200-120039600	Flanking Active TSS	NHEK	skin
31	chr6:120039200-120039800	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr6:120039200-120040000	Enhancers	Primary B cells from peripheral blood	blood
33	chr6:120039200-120040200	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr6:120039200-120040400	Enhancers	Adipose Nuclei	Adipose
35	chr6:120039400-120040000	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr6:120039400-120040200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr6:120039600-120040000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr6:120039600-120040000	Enhancers	NHEK	skin
39	chr6:120039800-120040000	Enhancers	H1 Cell Line	embryonic stem cell
40	chr6:120046800-120048600	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr6:120047000-120047800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr6:120047200-120048400	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr6:120047800-120048200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:120048000-120049200	Enhancers	Fetal Thymus	thymus
45	chr6:120048000-120049400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:120048200-120048400	Enhancers	Pancreas	Pancrea
47	chr6:120048200-120048600	Enhancers	HepG2	liver
48	chr6:120048200-120048800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:120048200-120049000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr6:120048200-120049000	Enhancers	NHEK	skin

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