Variant report

Variant	esv2609149
Chromosome Location	chr5:114755821-114758499
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:114755931..114757845-chr5:114758052..114760367,3	MCF-7	breast:
2	chr5:114755931..114757845-chr5:114758052..114760367,3	MCF-7	breast:

Extended variants
information (count: 56 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:56 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs558719196	chr5:114755858-114755859	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs572401618	chr5:114755862-114755863	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs541194101	chr5:114755879-114755880	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs369261844	chr5:114755910-114755911	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs575100732	chr5:114755941-114755942	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373057395	chr5:114755966-114755967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs145562273	chr5:114756013-114756014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563976165	chr5:114756024-114756025	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs532655168	chr5:114756046-114756047	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140362026	chr5:114756064-114756065	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs530964426	chr5:114756067-114756068	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs544991502	chr5:114756079-114756080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs550785175	chr5:114756084-114756085	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs546467428	chr5:114756110-114756111	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs17137774	chr5:114756121-114756122	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs114354379	chr5:114756137-114756138	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs187009014	chr5:114756146-114756147	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs571997080	chr5:114756147-114756148	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs542599771	chr5:114756170-114756171	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191834218	chr5:114756186-114756187	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs529840448	chr5:114756214-114756215	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561144162	chr5:114756218-114756219	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185169726	chr5:114756241-114756242	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs369840376	chr5:114756242-114756243	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs145044280	chr5:114756267-114756268	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs531568809	chr5:114756318-114756319	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs546558556	chr5:114756329-114756330	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs60622353	chr5:114756427-114756428	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs201404128	chr5:114756516-114756517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs558793687	chr5:114756639-114756640	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs58533979	chr5:114756988-114756989	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs372641190	chr5:114756989-114756990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs549976027	chr5:114756992-114756993	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs200371973	chr5:114757458-114757459	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs199628834	chr5:114757483-114757484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs565974633	chr5:114757499-114757500	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs534982528	chr5:114757635-114757636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs555122075	chr5:114757719-114757720	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs574940874	chr5:114758041-114758042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs374624052	chr5:114758096-114758097	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs544040343	chr5:114758098-114758099	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs557628410	chr5:114758115-114758116	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs374098630	chr5:114758120-114758121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs190089872	chr5:114758136-114758137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs546210045	chr5:114758291-114758292	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs559982681	chr5:114758292-114758293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182312709	chr5:114758301-114758302	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs540575314	chr5:114758302-114758303	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs185705954	chr5:114758306-114758307	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs114490515	chr5:114758312-114758313	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Metanephric adenoma	20802469	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
Non-small cell lung cancer	21829676	CNVD
adenomatous polyposis	22470819	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114749400-114756600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr5:114750000-114758000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr5:114751000-114756200	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr5:114751200-114756000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr5:114751200-114759400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr5:114751200-114760200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:114751600-114758000	Weak transcription	Right Ventricle	heart
8	chr5:114751800-114759400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr5:114752000-114759400	Weak transcription	Lung	lung
10	chr5:114752600-114758200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr5:114753400-114756400	Enhancers	Stomach Mucosa	stomach
12	chr5:114753400-114758600	Weak transcription	Brain Anterior Caudate	brain
13	chr5:114753800-114756400	Enhancers	Hela-S3	cervix
14	chr5:114754000-114756400	Enhancers	NHDF-Ad	bronchial
15	chr5:114754000-114761600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:114754400-114756400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr5:114754400-114756400	Enhancers	HUVEC	blood vessel
18	chr5:114754600-114756200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:114754600-114756200	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr5:114754600-114756200	Enhancers	NHLF	lung
21	chr5:114754600-114756400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr5:114754600-114756400	Enhancers	NHEK	skin
23	chr5:114754800-114756200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr5:114754800-114756400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr5:114754800-114756400	Enhancers	HMEC	breast
26	chr5:114754800-114766800	Weak transcription	Fetal Intestine Large	intestine
27	chr5:114755000-114756400	Enhancers	NH-A	brain
28	chr5:114755000-114756400	Enhancers	Osteobl	bone
29	chr5:114755000-114758000	Weak transcription	Colonic Mucosa	Colon
30	chr5:114755000-114758400	Weak transcription	Pancreas	Pancrea
31	chr5:114755200-114756000	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr5:114755200-114756200	Enhancers	Right Atrium	heart
33	chr5:114755200-114756200	Enhancers	HSMM	muscle
34	chr5:114755200-114756400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr5:114755200-114758400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr5:114755200-114762200	Weak transcription	Fetal Intestine Small	intestine
37	chr5:114755400-114756000	Enhancers	Rectal Smooth Muscle	rectum
38	chr5:114755400-114756200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:114755400-114756200	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr5:114755400-114756200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr5:114755400-114756200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr5:114755400-114756200	Enhancers	Adipose Nuclei	Adipose
43	chr5:114755400-114756200	Enhancers	Fetal Muscle Leg	muscle
44	chr5:114755400-114756200	Enhancers	Psoas Muscle	Psoas
45	chr5:114755400-114756200	Enhancers	HSMMtube	muscle
46	chr5:114755400-114756400	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr5:114755400-114756400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr5:114755400-114756400	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr5:114755400-114756400	Enhancers	Small Intestine	intestine
50	chr5:114755600-114756000	Enhancers	Rectal Mucosa Donor 29	rectum

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