Variant report

Variant	nsv884090
Chromosome Location	chr6:30497652-30510992
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:48)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:48 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30500351..30502392-chr6:30508622..30511098,3	MCF-7	breast:
2	chr6:30508930..30509853-chr6:30564846..30566230,4	K562	blood:
3	chr6:30501823..30504352-chr6:30508210..30511261,3	K562	blood:
4	chr6:30462887..30464887-chr6:30510637..30512164,2	MCF-7	breast:
5	chr6:30494651..30496200-chr6:30498206..30500229,2	K562	blood:
6	chr6:30508923..30509716-chr6:30698350..30698880,2	K562	blood:
7	chr6:30509203..30509877-chr9:137590171..137591001,2	K562	blood:
8	chr6:30451203..30451876-chr6:30500417..30501033,3	MCF-7	breast:
9	chr6:30500351..30502392-chr6:30508622..30511098,3	MCF-7	breast:
10	chr6:30450855..30453185-chr6:30509734..30512303,2	K562	blood:
11	chr6:30507925..30510897-chr6:30565235..30566858,2	MCF-7	breast:
12	chr6:30448715..30451618-chr6:30508372..30511107,3	MCF-7	breast:
13	chr6:30458227..30458900-chr6:30500230..30500946,2	MCF-7	breast:
14	chr6:30497178..30499425-chr6:30580124..30582637,2	MCF-7	breast:
15	chr6:30455622..30459464-chr6:30506814..30514144,13	MCF-7	breast:
16	chr6:30496733..30498265-chr6:30509462..30511032,2	MCF-7	breast:
17	chr6:30510965..30513453-chr6:30582181..30583801,2	MCF-7	breast:
18	chr6:30509546..30511199-chr6:30558903..30560552,2	MCF-7	breast:
19	chr6:30455702..30459362-chr6:30509404..30512768,5	K562	blood:
20	chr6:30496733..30498265-chr6:30509462..30511032,2	MCF-7	breast:
21	chr6:30501823..30504352-chr6:30508210..30511261,3	K562	blood:
22	chr6:30457150..30459406-chr6:30498043..30501943,4	K562	blood:
23	chr6:30449539..30450477-chr6:30508895..30509868,3	K562	blood:
24	chr6:30509149..30511194-chr6:30512719..30514851,2	MCF-7	breast:
25	chr6:30461885..30464563-chr6:30510233..30512351,2	MCF-7	breast:
26	chr6:30494697..30497060-chr6:30502191..30504973,2	K562	blood:
27	chr6:30495618..30498442-chr6:30501086..30503678,2	MCF-7	breast:
28	chr6:30462680..30464741-chr6:30508231..30510118,2	MCF-7	breast:
29	chr6:30498128..30503882-chr6:30581008..30585701,7	K562	blood:
30	chr6:30510302..30512200-chr6:30697195..30698845,2	K562	blood:
31	chr6:30510591..30511280-chr6:30523928..30524591,2	K562	blood:
32	chr6:30475694..30477248-chr6:30510169..30512325,2	MCF-7	breast:
33	chr6:30456202..30457872-chr6:30504425..30506184,2	MCF-7	breast:
34	chr6:30464089..30465020-chr6:30509004..30510114,3	K562	blood:
35	chr6:30461707..30464004-chr6:30498859..30501819,2	MCF-7	breast:
36	chr6:30455559..30458107-chr6:30499616..30502818,3	MCF-7	breast:
37	chr6:30498826..30501960-chr6:30560554..30564366,3	MCF-7	breast:
38	chr6:30464223..30465018-chr6:30499963..30500762,2	MCF-7	breast:
39	chr6:30501371..30504136-chr6:30577423..30580435,3	K562	blood:
40	chr6:30495618..30498442-chr6:30501086..30503678,2	MCF-7	breast:
41	chr6:30451171..30452124-chr6:30499936..30500898,4	K562	blood:
42	chr6:30508391..30510034-chr6:30623412..30625935,2	MCF-7	breast:
43	chr6:30508952..30509950-chr6:30564824..30565739,5	MCF-7	breast:
44	chr6:30507227..30509019-chr6:30523712..30525596,2	MCF-7	breast:
45	chr6:30456754..30458264-chr6:30496160..30498404,2	MCF-7	breast:
46	chr6:30510952..30513795-chr6:30691840..30693915,2	K562	blood:
47	chr6:30464388..30464899-chr6:30500211..30500835,2	MCF-7	breast:
48	chr6:30447476..30449412-chr6:30509865..30511998,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000204590	chromatin interactions
ENSG00000204576	chromatin interactions
ENSG00000204592	chromatin interactions
ENSG00000204569	chromatin interactions
ENSG00000222894	chromatin interactions
ENSG00000204568	chromatin interactions

Extended variants
information (count: 355 )
Associated
traits (count: 120 )

Variant overlapped rSNPs/rCNVs (count:355 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs375410676	chr6:30497700-30497701	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs547856337	chr6:30497750-30497751	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs565145119	chr6:30497770-30497771	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs146760247	chr6:30497772-30497773	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs140479250	chr6:30497780-30497781	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs368721517	chr6:30497844-30497845	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs144216603	chr6:30497859-30497860	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs567343610	chr6:30497933-30497934	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs529835514	chr6:30497942-30497943	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs546360633	chr6:30497983-30497984	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs566157438	chr6:30498005-30498006	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs566068780	chr6:30498043-30498044	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs78961208	chr6:30498149-30498150	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs558044382	chr6:30498158-30498159	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs571562202	chr6:30498219-30498220	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs537341519	chr6:30498259-30498260	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs191176821	chr6:30498360-30498361	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs574138357	chr6:30498416-30498417	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs536783394	chr6:30498426-30498427	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs200453330	chr6:30498442-30498443	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs371957670	chr6:30498592-30498593	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs553477473	chr6:30498715-30498716	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs12210622	chr6:30498740-30498741	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs573293675	chr6:30498741-30498742	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs185620611	chr6:30498758-30498759	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs565179234	chr6:30498795-30498796	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs575538405	chr6:30498803-30498804	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs544167467	chr6:30498817-30498818	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
29	rs371050998	chr6:30498823-30498824	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
30	rs561168521	chr6:30498845-30498846	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
31	rs2534816	chr6:30498864-30498865	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs546310426	chr6:30498912-30498913	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
33	rs559351779	chr6:30498968-30498969	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
34	rs559780773	chr6:30499013-30499014	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
35	rs2534815	chr6:30499127-30499128	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs188897811	chr6:30499166-30499167	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
37	rs146573188	chr6:30499170-30499171	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
38	rs551903132	chr6:30499232-30499233	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
39	rs58423891	chr6:30499239-30499240	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs550971389	chr6:30499244-30499245	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
41	rs567873066	chr6:30499248-30499249	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
42	rs113447336	chr6:30499287-30499288	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
43	rs553516255	chr6:30499370-30499371	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
44	rs573330657	chr6:30499429-30499430	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
45	rs572210981	chr6:30499475-30499476	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
46	rs539129475	chr6:30499565-30499566	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
47	rs559030451	chr6:30499592-30499593	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
48	rs61123281	chr6:30499599-30499600	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs115756042	chr6:30499604-30499605	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
50	rs576559212	chr6:30499675-30499676	Weak transcription Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:120)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
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
Lung cancer	18438408	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
Cancer	20164919	CNVD
Melanoma	18172304	CNVD
Breast cancer	22844521	CNVD
HIV/AIDS	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Psoriasis	22844521	CNVD
Rheumatoid arthritis	22844521	CNVD
Sclerosis systemic	22844521	CNVD
Systemic lupus erythematosus	22844521	CNVD
Breast cancer	22522925	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	21552322	CNVD
Immune disease	21076436	CNVD
Autoimmune disease	19135723	CNVD
Systemic lupus erythematosus	17953491	CNVD
Recurrent Infections	22737222	CNVD
Systemic lupus erythematosus	21904924	CNVD
Ependymoma	19289631	CNVD
Gestational infection	22844521	CNVD
Head circumference	22844521	CNVD
Infertility	22844521	CNVD
Recurrent birth weight diabetes	22844521	CNVD
Obesity	22844521	CNVD
Recurrent pregnancy loss	22844521	CNVD
Intellectual disability	21811512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Nasopharyngeal cancer	22815911	CNVD
Hepatocellular carcinoma	16750200	CNVD
Basal cell lymphoma	21115979	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Autism	22495311	CNVD
Cancer	16790693	CNVD
Cervical cancer	21062161	CNVD
Breast cancer	21785460	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
Renal cell carcinoma	18765545	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
Melanoma	17363583	CNVD
Myelofibrosis	22110671	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
Breast cancer	21364760	CNVD
Lung cancer	21569311	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
Congenital adrenal hyperplasia	18478071	CNVD
Systemic lupus erythematosus	19287147	CNVD
Osteosarcoma	16790693	CNVD

Chromatin state (count:618 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30486000-30500000	Weak transcription	Thymus	Thymus
2	chr6:30495000-30498800	Enhancers	Primary T cells fromperipheralblood	blood
3	chr6:30495000-30499000	Enhancers	Primary B cells from peripheral blood	blood
4	chr6:30495000-30501200	Enhancers	Primary B cells from cord blood	blood
5	chr6:30495200-30498400	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr6:30495200-30498400	Enhancers	Fetal Intestine Large	intestine
7	chr6:30495200-30498600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:30495200-30498600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
9	chr6:30495200-30498600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:30495200-30498800	Enhancers	HepG2	liver
11	chr6:30495400-30498000	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr6:30495400-30498400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr6:30495400-30498600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:30495400-30498800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:30495400-30499000	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr6:30495600-30498200	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr6:30495600-30498400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr6:30495800-30499000	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr6:30496000-30498200	Enhancers	Duodenum Mucosa	Duodenum
20	chr6:30496000-30498800	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr6:30496000-30499000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr6:30496000-30500000	Weak transcription	Right Atrium	heart
23	chr6:30496200-30497800	Weak transcription	Hela-S3	cervix
24	chr6:30496200-30498200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr6:30496200-30498200	Enhancers	HUVEC	blood vessel
26	chr6:30496200-30500000	Weak transcription	Colon Smooth Muscle	Colon
27	chr6:30496200-30500000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr6:30496400-30499000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr6:30496400-30500000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr6:30496400-30500000	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr6:30496400-30500000	Weak transcription	Stomach Mucosa	stomach
32	chr6:30496400-30500200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr6:30496400-30500200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:30496400-30500200	Weak transcription	NHEK	skin
35	chr6:30496400-30500200	Weak transcription	Osteobl	bone
36	chr6:30496400-30500400	Weak transcription	NHLF	lung
37	chr6:30496400-30513400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr6:30496800-30498200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr6:30496800-30498400	Enhancers	Primary T cells from cord blood	blood
40	chr6:30496800-30498400	Enhancers	Adipose Nuclei	Adipose
41	chr6:30497000-30500400	Weak transcription	NHDF-Ad	bronchial
42	chr6:30497200-30498600	Enhancers	Primary hematopoietic stem cells	blood
43	chr6:30497400-30498000	Enhancers	Fetal Intestine Small	intestine
44	chr6:30497400-30498200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr6:30497400-30498600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr6:30497400-30498600	Enhancers	K562	blood
47	chr6:30497600-30497800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr6:30497600-30498000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
49	chr6:30497600-30498800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr6:30497600-30500400	Enhancers	GM12878-XiMat	blood

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