Variant report

Variant	nsv519079
Chromosome Location	chr6:33540209-33542538
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:5)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:33356979..33359554-chr6:33539289..33540812,2	K562	blood:
2	chr6:33537717..33540253-chr6:33551095..33553614,2	K562	blood:
3	chr6:33392424..33395335-chr6:33538728..33540669,5	K562	blood:
4	chr6:33532988..33536659-chr6:33537187..33540995,4	K562	blood:
5	chr6:33537267..33540253-chr6:33551095..33553614,3	K562	blood:
6	chr6:33521966..33523890-chr6:33538624..33540317,3	MCF-7	breast:
7	chr6:33357812..33359554-chr6:33539312..33540834,2	K562	blood:
8	chr6:33375962..33378534-chr6:33537596..33540481,2	K562	blood:
9	chr6:33537234..33540947-chr6:33547325..33549534,4	K562	blood:
10	chr6:33392929..33396981-chr6:33537285..33540754,6	MCF-7	breast:
11	chr6:33541749..33544429-chr6:33546198..33547784,2	MCF-7	breast:
12	chr6:33379174..33381010-chr6:33538458..33541414,2	K562	blood:
13	chr6:33538816..33540942-chr6:33543611..33545834,3	MCF-7	breast:

No data

(count:5 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	BAK1	hsa-miR-125a-5p	chr6:33540949-33540942
2	BAK1	hsa-miR-125a-5p	chr6:33540943-33540963
3	BAK1	hsa-miR-92a-3p	chr6:33540335-33540360
4	BAK1	hsa-miR-125b-5p	chr6:33540949-33540942
5	BAK1	hsa-miR-125b-5p	chr6:33540943-33540964

Variant related genes	Relation type
ENSG00000112511	chromatin interactions
ENSG00000030110	chromatin interactions
ENSG00000237649	chromatin interactions
ENSG00000225644	chromatin interactions
ENSG00000204188	chromatin interactions

Extended variants
information (count: 107 )
Associated
traits (count: 106 )

Variant overlapped rSNPs/rCNVs (count:107 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs210134	chr6:33540209-33540210	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs567376447	chr6:33540233-33540234	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
3	rs181108566	chr6:33540234-33540235	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
4	rs549939386	chr6:33540244-33540245	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
5	rs80065855	chr6:33540340-33540341	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region miRNA target site	5 gene(s)	Overlapped CNVs	n/a
6	rs150482729	chr6:33540371-33540372	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs4711330	chr6:33540372-33540373	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs1051964	chr6:33540375-33540376	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs186506282	chr6:33540381-33540382	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs1051958	chr6:33540392-33540393	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs1051945	chr6:33540424-33540425	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs1051940	chr6:33540430-33540431	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs546370243	chr6:33540437-33540438	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs536574362	chr6:33540439-33540440	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs4713635	chr6:33540480-33540481	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs564580110	chr6:33540487-33540488	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs555242575	chr6:33540510-33540511	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs528558662	chr6:33540513-33540514	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs576272583	chr6:33540558-33540559	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs543617808	chr6:33540562-33540563	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs565090846	chr6:33540597-33540598	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs546993172	chr6:33540638-33540639	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs145004927	chr6:33540692-33540693	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs568388557	chr6:33540776-33540777	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs191850317	chr6:33540836-33540837	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs7762214	chr6:33540855-33540856	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs7746159	chr6:33540885-33540886	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs530082443	chr6:33540899-33540900	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs549053288	chr6:33540920-33540921	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs371998289	chr6:33541098-33541099	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs181851656	chr6:33541120-33541121	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs531593162	chr6:33541135-33541136	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs6457732	chr6:33541149-33541150	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs111573878	chr6:33541168-33541169	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs571436982	chr6:33541172-33541173	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs532258582	chr6:33541196-33541197	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs2894354	chr6:33541236-33541237	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs529272226	chr6:33541239-33541240	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs36040266	chr6:33541289-33541290	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs547448643	chr6:33541316-33541317	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs5745597	chr6:33541338-33541339	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs536238538	chr6:33541350-33541351	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs5745596	chr6:33541408-33541409	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs570018194	chr6:33541430-33541431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs537321467	chr6:33541432-33541433	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs2894353	chr6:33541433-33541434	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs558742403	chr6:33541446-33541447	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs577008922	chr6:33541455-33541456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs541193872	chr6:33541470-33541471	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs553427506	chr6:33541487-33541488	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:106)

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
Myelofibrosis	22110671	CNVD
Incontinentia Pigmenti	22033527	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Encephalopathy	20692195	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

Chromatin state (count:260 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33539200-33541600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:33539200-33547200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr6:33539400-33541400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr6:33539400-33541600	Weak transcription	Ovary	ovary
5	chr6:33539400-33541800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:33539600-33540400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:33539600-33540400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:33539600-33540400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr6:33539600-33540400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr6:33539600-33540400	Genic enhancers	Placenta	Placenta
11	chr6:33539600-33540400	Strong transcription	NHLF	lung
12	chr6:33539600-33541600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:33539600-33541600	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr6:33539600-33541600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr6:33539600-33541800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr6:33539600-33541800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr6:33539600-33541800	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr6:33539600-33541800	Weak transcription	Small Intestine	intestine
19	chr6:33539600-33542000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr6:33539600-33542000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr6:33539600-33542000	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr6:33539600-33542000	Weak transcription	HUVEC	blood vessel
23	chr6:33539600-33542800	Weak transcription	A549	lung
24	chr6:33539600-33546200	Weak transcription	NHDF-Ad	bronchial
25	chr6:33539600-33546400	Weak transcription	Fetal Brain Male	brain
26	chr6:33539600-33547000	Weak transcription	Fetal Kidney	kidney
27	chr6:33539800-33540400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr6:33539800-33540400	Enhancers	Primary B cells from peripheral blood	blood
29	chr6:33539800-33540400	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr6:33539800-33540400	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr6:33539800-33540400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr6:33539800-33540400	Enhancers	Brain Angular Gyrus	brain
33	chr6:33539800-33540400	Genic enhancers	Duodenum Mucosa	Duodenum
34	chr6:33539800-33540400	Genic enhancers	Fetal Thymus	thymus
35	chr6:33539800-33540400	Genic enhancers	Rectal Mucosa Donor 29	rectum
36	chr6:33539800-33540400	Enhancers	Thymus	Thymus
37	chr6:33539800-33540400	Strong transcription	HMEC	breast
38	chr6:33539800-33540400	Strong transcription	NHEK	skin
39	chr6:33539800-33540600	Genic enhancers	Primary T cells fromperipheralblood	blood
40	chr6:33539800-33540800	Weak transcription	Adipose Nuclei	Adipose
41	chr6:33539800-33541000	Weak transcription	Brain Germinal Matrix	brain
42	chr6:33539800-33541200	Weak transcription	Fetal Brain Female	brain
43	chr6:33539800-33541200	Weak transcription	Stomach Smooth Muscle	stomach
44	chr6:33539800-33541200	Weak transcription	Osteobl	bone
45	chr6:33539800-33541400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:33539800-33541400	Weak transcription	Aorta	Aorta
47	chr6:33539800-33541600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr6:33539800-33541600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr6:33539800-33541600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr6:33539800-33541600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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