Variant report

Variant	esv1830193
Chromosome Location	chr6:121392847-121425387
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:121411153..121412968-chr6:121418070..121419760,2	MCF-7	breast:
2	chr6:121395589..121397315-chr6:121403904..121405742,2	K562	blood:
3	chr6:121393095..121394934-chr6:121401987..121403872,2	MCF-7	breast:
4	chr6:121400057..121403003-chr6:121403745..121405643,2	K562	blood:
5	chr6:121399181..121401952-chr6:121402264..121404345,2	K562	blood:
6	chr6:121412403..121414647-chr6:121418696..121420931,2	K562	blood:
7	chr6:121411153..121412968-chr6:121418070..121419760,2	MCF-7	breast:
8	chr6:121412403..121414647-chr6:121418696..121420931,2	K562	blood:
9	chr6:121394181..121397153-chr6:121399643..121401552,2	K562	blood:
10	chr6:121393095..121394934-chr6:121401987..121403872,2	MCF-7	breast:
11	chr6:121399181..121401952-chr6:121402264..121404345,2	K562	blood:
12	chr6:121394181..121397153-chr6:121399643..121401552,2	K562	blood:
13	chr6:121400057..121403003-chr6:121403745..121405643,2	K562	blood:
14	chr6:121395589..121397315-chr6:121403904..121405742,2	K562	blood:

No data

Extended variants
information (count: 1222 )
Associated
traits (count: 115 )

Variant overlapped rSNPs/rCNVs (count:1222 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12527636	chr6:121392847-121392848	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs553396234	chr6:121392855-121392856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs116755240	chr6:121392860-121392861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs542485038	chr6:121392876-121392877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs185569580	chr6:121392884-121392885	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs12529234	chr6:121392928-121392929	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs188023138	chr6:121392961-121392962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs71565263	chr6:121392995-121392996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs570926030	chr6:121392996-121392997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs564469220	chr6:121393024-121393025	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs533182288	chr6:121393031-121393032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs532559386	chr6:121393039-121393040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs180950425	chr6:121393042-121393043	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs565880570	chr6:121393062-121393063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114909691	chr6:121393069-121393070	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534705531	chr6:121393113-121393114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs548011626	chr6:121393117-121393118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs142223000	chr6:121393170-121393171	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs549994681	chr6:121393194-121393195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs556790077	chr6:121393229-121393230	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs186996846	chr6:121393241-121393242	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs553372096	chr6:121393249-121393250	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs7748115	chr6:121393373-121393374	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs553623340	chr6:121393427-121393428	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs573611477	chr6:121393457-121393458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs542417799	chr6:121393466-121393467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78414315	chr6:121393484-121393485	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs148190869	chr6:121393487-121393488	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544677230	chr6:121393496-121393497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141175137	chr6:121393510-121393511	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs555976879	chr6:121393511-121393512	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs11393872	chr6:121393562-121393563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs7751808	chr6:121393599-121393600	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs192281877	chr6:121393619-121393620	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs559578477	chr6:121393625-121393626	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs7772236	chr6:121393640-121393641	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs184069334	chr6:121393666-121393667	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs567874201	chr6:121393726-121393727	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs530625041	chr6:121393750-121393751	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs186032924	chr6:121393761-121393762	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs140543101	chr6:121393768-121393769	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs369062360	chr6:121393769-121393770	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570496230	chr6:121393793-121393794	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs539406202	chr6:121393798-121393799	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs546305405	chr6:121393823-121393824	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs566494502	chr6:121393845-121393846	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs114184315	chr6:121393848-121393849	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs556102298	chr6:121393874-121393875	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs575860819	chr6:121393880-121393881	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs76582758	chr6:121393978-121393979	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:115)

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
Breast cancer	21611746	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Ependymoma	18628472	CNVD
Ewing''s sarcoma	18628472	CNVD
Leukemia	18628472	CNVD

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:121390800-121444000	Weak transcription	Ovary	ovary
2	chr6:121403600-121443400	Weak transcription	Left Ventricle	heart
3	chr6:121405800-121432000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr6:121411800-121412600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr6:121411800-121443000	Weak transcription	Primary T cells from cord blood	blood
6	chr6:121412200-121413200	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr6:121412400-121412600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr6:121412600-121413200	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr6:121412600-121426200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr6:121413000-121413400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr6:121413000-121413400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr6:121414400-121414800	Enhancers	Brain Germinal Matrix	brain
13	chr6:121415400-121442200	Weak transcription	Primary hematopoietic stem cells	blood
14	chr6:121418000-121442200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr6:121418200-121436000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr6:121418200-121443800	Weak transcription	Dnd41	blood
17	chr6:121418400-121422600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr6:121418600-121446200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:121418800-121434400	Weak transcription	Fetal Intestine Large	intestine
20	chr6:121419800-121446200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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