Variant report

Variant	nsv518515
Chromosome Location	chr6:74122155-74126084
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:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	6:74062967-74076046..6:74125396-74126855	Hela-S3	cervix:
2	chr6:74121986..74124978-chr6:74160320..74162197,2	MCF-7	breast:
3	chr6:74122459..74125272-chr6:74125435..74127314,2	K562	blood:
4	chr6:74117628..74120128-chr6:74125785..74127778,2	K562	blood:
5	chr6:74123752..74126694-chr6:74128372..74130014,2	K562	blood:
6	chr6:74123005..74125594-chr6:74132092..74134243,2	MCF-7	breast:
7	chr6:74122459..74125272-chr6:74125435..74127314,2	K562	blood:
8	chr17:57920177..57922267-chr6:74122040..74123609,2	MCF-7	breast:
9	6:74078047-74099067..6:74122020-74124418	Hela-S3	cervix:
10	6:74062967-74076046..6:74122020-74124418	Hela-S3	cervix:
11	chr6:74115682..74117594-chr6:74125072..74126917,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000235174	chromatin interactions
ENSG00000203907	chromatin interactions
ENSG00000203909	chromatin interactions
ENSG00000080007	chromatin interactions
ENSG00000231332	chromatin interactions
ENSG00000164430	chromatin interactions
ENSG00000203908	chromatin interactions

Extended variants
information (count: 189 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:189 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1869558	chr6:74122155-74122156	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs556110116	chr6:74122199-74122200	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs375387584	chr6:74122204-74122205	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs567984012	chr6:74122225-74122226	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs376077591	chr6:74122243-74122244	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs62440595	chr6:74122260-74122261	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs536097233	chr6:74122285-74122286	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs112417862	chr6:74122300-74122301	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs35170039	chr6:74122302-74122303	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs199853812	chr6:74122348-74122349	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs142376450	chr6:74122349-74122350	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs376258603	chr6:74122361-74122362	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs148226645	chr6:74122362-74122363	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs147294160	chr6:74122363-74122364	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs368562272	chr6:74122384-74122385	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs572813727	chr6:74122387-74122388	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs113669891	chr6:74122389-74122390	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs538597626	chr6:74122391-74122392	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs370689725	chr6:74122392-74122393	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs201804362	chr6:74122393-74122394	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs546415495	chr6:74122396-74122397	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs558418481	chr6:74122399-74122400	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs576594046	chr6:74122400-74122401	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs143068937	chr6:74122401-74122402	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
25	rs200406044	chr6:74122402-74122403	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
26	rs311688	chr6:74122403-74122404	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
27	rs192358251	chr6:74122412-74122413	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
28	rs529276681	chr6:74122413-74122414	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
29	rs542068003	chr6:74122416-74122417	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
30	rs560006366	chr6:74122417-74122418	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
31	rs527628603	chr6:74122421-74122422	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
32	rs115245363	chr6:74122428-74122429	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
33	rs572086519	chr6:74122451-74122452	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
34	rs35713525	chr6:74122452-74122453	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
35	rs145930290	chr6:74122463-74122464	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
36	rs201583817	chr6:74122475-74122476	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
37	rs543881816	chr6:74122517-74122518	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
38	rs561036305	chr6:74122523-74122524	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
39	rs569951629	chr6:74122525-74122526	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
40	rs373228584	chr6:74122554-74122555	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
41	rs562138509	chr6:74122565-74122566	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
42	rs570349127	chr6:74122633-74122634	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
43	rs530085925	chr6:74122635-74122636	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs531403345	chr6:74122659-74122660	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
45	rs377471068	chr6:74122666-74122667	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
46	rs372434836	chr6:74122667-74122668	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
47	rs183200354	chr6:74122690-74122691	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
48	rs535093387	chr6:74122698-74122699	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs553848089	chr6:74122709-74122710	Weak transcription	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs9343042	chr6:74122711-74122712	Weak transcription	Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:90)

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
Endometrioid adenocarcinoma	16974079	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
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Systemic lupus erythematosus	17503323	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Cancer	21637783	CNVD
Colorectal cancer	16272173	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
T-cell lymphomas	19863542	CNVD
Lung cancer	18438408	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
Prostate cancer	16573809	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Urothelial carcinoma	18382360	CNVD
Ovarian neoplasms	16753589	CNVD
Hepatocellular carcinoma	16750200	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ovarian cancer	17437010	CNVD
Myelofibrosis	22110671	CNVD
Glioma	17123091	CNVD
Mental retardation	17124404	CNVD
Chondromyxoid Fibroma	20696777	CNVD
Multiple myeloma	16616336	CNVD
Acute myeloid leukemia	16864856	CNVD
Follicular lymphoma	17699855	CNVD
Breast cancer	17133270	CNVD
Leukemia	18688285	CNVD
Prostate cancer	19242612	CNVD
Developmental delay	21147756	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

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:74115000-74131000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr6:74115800-74131200	Weak transcription	Primary T helper cells fromperipheralblood	blood
3	chr6:74117400-74123000	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr6:74117800-74131800	Weak transcription	Primary B cells from cord blood	blood
5	chr6:74118600-74125600	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr6:74119200-74149000	Weak transcription	Fetal Intestine Large	intestine
7	chr6:74120400-74126000	Weak transcription	Placenta	Placenta
8	chr6:74120600-74131200	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr6:74121800-74125200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr6:74121800-74127800	Weak transcription	K562	blood
11	chr6:74122200-74131200	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr6:74122400-74131200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:74122800-74131400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr6:74123000-74124600	Weak transcription	Primary monocytes fromperipheralblood	blood
15	chr6:74123000-74130200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr6:74123200-74160200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr6:74124000-74128200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr6:74124000-74130000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr6:74124000-74131400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:74124200-74126400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr6:74124400-74131400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr6:74124400-74139800	Weak transcription	NHDF-Ad	bronchial
23	chr6:74124600-74127000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr6:74124600-74131200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr6:74124600-74131400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr6:74124600-74131400	Weak transcription	Adipose Nuclei	Adipose
27	chr6:74124800-74129800	Weak transcription	GM12878-XiMat	blood
28	chr6:74124800-74130000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr6:74124800-74131200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr6:74124800-74131400	Weak transcription	A549	lung
31	chr6:74125200-74126000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:74125200-74131400	Weak transcription	Left Ventricle	heart
33	chr6:74125200-74131600	Weak transcription	Aorta	Aorta
34	chr6:74125400-74125600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:74125400-74160800	Weak transcription	Gastric	stomach
36	chr6:74125600-74129000	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr6:74125600-74131800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr6:74125800-74127600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr6:74125800-74131200	Weak transcription	Fetal Intestine Small	intestine
40	chr6:74126000-74126200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:74126000-74126400	Strong transcription	Placenta	Placenta
42	chr6:74126000-74127400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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