Variant report

Variant	esv3417986
Chromosome Location	chr6:76465882-76468180
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	chr6:76461153..76463947-chr6:76466842..76469998,3	MCF-7	breast:
2	chr6:76457754..76460582-chr6:76467683..76471676,6	MCF-7	breast:
3	chr6:76458851..76461812-chr6:76463826..76465926,2	K562	blood:
4	chr6:76467679..76469997-chr6:76472807..76474955,2	K562	blood:
5	chr6:76465017..76467292-chr6:76472497..76474825,2	K562	blood:
6	chr6:76463962..76466709-chr6:76471388..76473486,2	MCF-7	breast:
7	chr6:76458851..76461588-chr6:76463826..76466127,2	K562	blood:
8	chr6:76467679..76470814-chr6:76472807..76475124,3	K562	blood:
9	chr6:76465841..76467549-chr6:76494669..76496179,2	MCF-7	breast:
10	chr6:76467657..76469847-chr6:76559756..76561654,2	MCF-7	breast:
11	chr6:76463940..76466517-chr6:76472497..76474287,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000196586	chromatin interactions

Extended variants
information (count: 123 )
Associated
traits (count: 98 )

Variant overlapped rSNPs/rCNVs (count:123 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs191719725	chr6:76465884-76465885	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs114441198	chr6:76465890-76465891	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs537314174	chr6:76465945-76465946	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs77074526	chr6:76465946-76465947	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs368792280	chr6:76465950-76465951	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs397830117	chr6:76465957-76465958	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs574526447	chr6:76465997-76465998	Weak transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs529731883	chr6:76466023-76466024	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs147997214	chr6:76466039-76466040	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs72654755	chr6:76466050-76466051	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs533846817	chr6:76466071-76466072	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs373044793	chr6:76466080-76466081	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs552021194	chr6:76466134-76466135	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs184013982	chr6:76466142-76466143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs570658832	chr6:76466143-76466144	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs537629895	chr6:76466156-76466157	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs557068641	chr6:76466163-76466164	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs575641530	chr6:76466182-76466183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs538005344	chr6:76466200-76466201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs11963710	chr6:76466297-76466298	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs573156499	chr6:76466302-76466303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530370077	chr6:76466316-76466317	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs187935383	chr6:76466334-76466335	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs536367480	chr6:76466337-76466338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs373430678	chr6:76466353-76466354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs376038431	chr6:76466372-76466373	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs544808333	chr6:76466466-76466467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs191098650	chr6:76466478-76466479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs141631185	chr6:76466486-76466487	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75884518	chr6:76466503-76466504	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs556076524	chr6:76466596-76466597	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs544342318	chr6:76466602-76466603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs371732070	chr6:76466610-76466611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs33979235	chr6:76466611-76466612	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs72493038	chr6:76466612-76466613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs200272927	chr6:76466620-76466621	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs201409036	chr6:76466625-76466626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149207010	chr6:76466627-76466628	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs67653365	chr6:76466628-76466629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs375378909	chr6:76466629-76466630	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs35759968	chr6:76466632-76466633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs201473955	chr6:76466633-76466634	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs527269065	chr6:76466638-76466639	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs568295142	chr6:76466643-76466644	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552083695	chr6:76466650-76466651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs74213063	chr6:76466685-76466686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543329554	chr6:76466692-76466693	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs370259059	chr6:76466693-76466694	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs542461365	chr6:76466702-76466703	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs199577711	chr6:76466715-76466716	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:98)

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
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
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
Acute lymphoblastic leukemia	21098271	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Lung adenocarcinoma	21935476	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Salivary gland tumor	18059337	CNVD
Lung cancer	16773561	CNVD
Glioblastoma multiforme	22286061	CNVD
Urothelial cell carcinoma	18451213	CNVD
Prostate cancer	16461572	CNVD
Mental retardation	21045960	CNVD
Obesity	21045960	CNVD
learning difficulties	21045960	CNVD
Prostate cancer	17245344	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:76459600-76472200	Weak transcription	Small Intestine	intestine
2	chr6:76460000-76475600	Weak transcription	Psoas Muscle	Psoas
3	chr6:76460000-76481400	Weak transcription	Aorta	Aorta
4	chr6:76460200-76469000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr6:76460400-76469000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr6:76460600-76469000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr6:76460600-76476800	Weak transcription	Lung	lung
8	chr6:76460800-76469000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr6:76461000-76480800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr6:76461000-76485000	Weak transcription	Fetal Stomach	stomach
11	chr6:76461400-76475000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr6:76461600-76469000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr6:76461600-76470200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr6:76461600-76475800	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr6:76461600-76485000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:76462400-76469000	Weak transcription	Left Ventricle	heart
17	chr6:76462400-76482200	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr6:76462600-76467200	Weak transcription	HepG2	liver
19	chr6:76463000-76469000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr6:76463000-76470200	Weak transcription	Brain Angular Gyrus	brain
21	chr6:76463400-76470600	Weak transcription	Fetal Intestine Large	intestine
22	chr6:76463400-76485200	Weak transcription	Gastric	stomach
23	chr6:76463600-76467200	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr6:76463600-76469000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr6:76463600-76469000	Weak transcription	HSMM	muscle
26	chr6:76463600-76470200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr6:76463600-76470400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:76463600-76476000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:76463800-76469000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr6:76463800-76469000	Weak transcription	Brain Hippocampus Middle	brain
31	chr6:76463800-76473800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr6:76463800-76478400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:76464000-76467800	Weak transcription	Hela-S3	cervix
34	chr6:76464000-76469000	Weak transcription	Brain Substantia Nigra	brain
35	chr6:76464000-76469000	Weak transcription	GM12878-XiMat	blood
36	chr6:76464000-76469000	Weak transcription	Osteobl	bone
37	chr6:76464000-76470200	Weak transcription	HSMMtube	muscle
38	chr6:76464200-76469000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr6:76464200-76478800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:76464200-76481600	Weak transcription	HUVEC	blood vessel
41	chr6:76464200-76485000	Weak transcription	Pancreas	Pancrea
42	chr6:76464800-76466000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:76465000-76467000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr6:76465400-76466000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:76465600-76466000	Enhancers	Brain Anterior Caudate	brain
46	chr6:76465800-76466000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:76465800-76466000	Genic enhancers	Fetal Intestine Small	intestine
48	chr6:76465800-76466000	Enhancers	NHLF	lung
49	chr6:76466000-76466200	Strong transcription	Fetal Intestine Small	intestine
50	chr6:76466000-76469000	Weak transcription	Brain Anterior Caudate	brain

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