Variant report

Variant	esv3398270
Chromosome Location	chr6:49468042-49488082
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	chr6:49421120..49423135-chr6:49476004..49477892,2	K562	blood:
2	chr6:49484253..49486777-chr6:49490670..49492739,2	MCF-7	breast:
3	chr6:49477846..49480791-chr6:49486673..49489629,2	MCF-7	breast:
4	chr6:49482721..49485662-chr6:49488120..49490444,2	K562	blood:
5	chr6:49487185..49488956-chr6:49492974..49495933,2	K562	blood:
6	chr6:49429669..49432480-chr6:49487435..49490344,2	K562	blood:
7	chr6:49479989..49482907-chr6:49513831..49515796,2	K562	blood:
8	chr6:49477846..49480791-chr6:49486673..49489629,2	MCF-7	breast:
9	chr6:49477015..49478603-chr6:49479650..49481514,2	K562	blood:
10	chr6:49477015..49478603-chr6:49479650..49481514,2	K562	blood:
11	chr6:49481051..49482766-chr6:49492466..49495213,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000146085	chromatin interactions
ENSG00000031691	chromatin interactions

Extended variants
information (count: 757 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:757 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11964378	chr6:49468068-49468069	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571455082	chr6:49468109-49468110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574628715	chr6:49468250-49468251	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs532449831	chr6:49468321-49468322	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs371921769	chr6:49468375-49468376	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs140421120	chr6:49468393-49468394	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs144319804	chr6:49468476-49468477	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs375261325	chr6:49468521-49468522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs568878968	chr6:49468579-49468580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs60737258	chr6:49468612-49468613	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs147789863	chr6:49468615-49468616	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs566749896	chr6:49468632-49468633	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs139665714	chr6:49468650-49468651	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs75631382	chr6:49468676-49468677	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs113103568	chr6:49468796-49468797	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs536261504	chr6:49468863-49468864	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs577046486	chr6:49468869-49468870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs147614670	chr6:49468872-49468873	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs556488581	chr6:49468888-49468889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs10948507	chr6:49468910-49468911	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs150162906	chr6:49468932-49468933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs369831087	chr6:49468937-49468938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs112739466	chr6:49468938-49468939	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs545078667	chr6:49468959-49468960	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs565174793	chr6:49468960-49468961	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs573481080	chr6:49468961-49468962	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs398001497	chr6:49468968-49468969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2448700	chr6:49468979-49468980	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs180903095	chr6:49469011-49469012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs145056877	chr6:49469015-49469016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs550634537	chr6:49469025-49469026	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562546592	chr6:49469026-49469027	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541753496	chr6:49469057-49469058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs530003419	chr6:49469062-49469063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs548559513	chr6:49469106-49469107	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566681535	chr6:49469112-49469113	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs12528372	chr6:49469128-49469129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs534077219	chr6:49469161-49469162	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs187368843	chr6:49469163-49469164	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs570630286	chr6:49469234-49469235	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs561423945	chr6:49469261-49469262	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs556251038	chr6:49469291-49469292	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192045608	chr6:49469297-49469298	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs570025313	chr6:49469328-49469329	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs535154473	chr6:49469359-49469360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs183594098	chr6:49469371-49469372	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs553708735	chr6:49469385-49469386	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs530376088	chr6:49469400-49469401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs376086902	chr6:49469402-49469403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs540491365	chr6:49469431-49469432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
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
Glioblastoma multiforme	21080181	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
T-cell prolymphocytic leukemia	19278963	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
Autism	22495311	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Urothelial carcinoma	18382360	CNVD
Cancer	21183584	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Gastric cancer	17908304	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Neuroblastoma	16790693	CNVD
T-cell prolymphocytic leukemia	17713554	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
Acute lymphoblastic leukemia	22237106	CNVD
Lung cancer	18438408	CNVD
Ovarian cancer	21720365	CNVD
Osteosarcoma	21197465	CNVD
Gastric cancer	24379144	CNVD
Neuroblastoma	18923191	CNVD
abnormal development	18461090	CNVD
Breast cancer	17603634	CNVD
Breast cancer	21364760	CNVD
Follicular lymphoma	16790693	CNVD
Osteosarcoma	19286668	CNVD
Neurocytoma	17123091	CNVD
Systemic lupus erythematosus	17503323	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Myelofibrosis	22110671	CNVD
Heart disease	21282601	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Breast cancer	16608533	CNVD
Olfactory neuroblastoma	18408657	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Neuroblastoma	19686582	CNVD
Neuroblastoma	17289879	CNVD
Breast cancer	17899364	CNVD
Breast cancer	17133270	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Bladder cancer	21909424	CNVD

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:49432600-49472000	Weak transcription	NHEK	skin
2	chr6:49458400-49472800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:49458600-49473800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr6:49460400-49473200	Weak transcription	HepG2	liver
5	chr6:49460600-49473600	Weak transcription	Stomach Mucosa	stomach
6	chr6:49461400-49472400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr6:49472000-49472800	Enhancers	NHEK	skin
8	chr6:49472400-49473200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:49473200-49474000	Enhancers	HepG2	liver
10	chr6:49473600-49475200	Enhancers	Stomach Mucosa	stomach
11	chr6:49473800-49474200	Enhancers	Pancreatic Islets	Pancreatic Islet
12	chr6:49473800-49474600	Enhancers	Duodenum Mucosa	Duodenum
13	chr6:49474000-49474200	Active TSS	Liver	Liver
14	chr6:49474000-49475000	Flanking Active TSS	HepG2	liver
15	chr6:49474200-49474400	Flanking Active TSS	Liver	Liver
16	chr6:49474200-49474400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr6:49474200-49474800	Enhancers	Fetal Intestine Small	intestine
18	chr6:49474400-49474600	Enhancers	Pancreatic Islets	Pancreatic Islet
19	chr6:49474400-49475000	Enhancers	Esophagus	oesophagus
20	chr6:49474400-49475000	Enhancers	Pancreas	Pancrea
21	chr6:49474400-49475600	Enhancers	Liver	Liver
22	chr6:49474600-49474800	Flanking Active TSS	Duodenum Mucosa	Duodenum
23	chr6:49474600-49474800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr6:49474600-49475400	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr6:49474800-49475400	Enhancers	Pancreatic Islets	Pancreatic Islet
26	chr6:49475000-49478200	Enhancers	HepG2	liver
27	chr6:49475200-49481000	Weak transcription	Stomach Mucosa	stomach
28	chr6:49475600-49476800	Weak transcription	Liver	Liver
29	chr6:49476800-49477600	Enhancers	Liver	Liver
30	chr6:49477600-49479200	Weak transcription	Liver	Liver
31	chr6:49478200-49480200	Weak transcription	HepG2	liver
32	chr6:49479200-49481000	Enhancers	Liver	Liver
33	chr6:49480200-49480600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr6:49480200-49482400	Enhancers	HepG2	liver
35	chr6:49480400-49480800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr6:49481000-49481200	Flanking Active TSS	Liver	Liver
37	chr6:49481000-49481600	Enhancers	Stomach Mucosa	stomach
38	chr6:49481200-49481400	Enhancers	Liver	Liver
39	chr6:49481400-49481600	Flanking Active TSS	Liver	Liver
40	chr6:49481400-49482000	Enhancers	NHDF-Ad	bronchial
41	chr6:49481600-49483000	Enhancers	Liver	Liver
42	chr6:49481600-49489400	Weak transcription	Stomach Mucosa	stomach
43	chr6:49482400-49483600	Weak transcription	HepG2	liver
44	chr6:49482400-49484000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr6:49482600-49482800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr6:49482800-49483800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:49483000-49489400	Weak transcription	Liver	Liver
48	chr6:49483200-49484200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:49483600-49484200	Enhancers	HepG2	liver
50	chr6:49483800-49484200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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