Variant report

Variant	esv1843289
Chromosome Location	chr5:147554337-147576457
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	chr5:147569510..147572351-chr5:147602489..147604362,3	K562	blood:
2	chr5:147558521..147559490-chr5:147754023..147754876,4	MCF-7	breast:
3	chr5:147575500..147576238-chr5:147685562..147686083,2	MCF-7	breast:
4	chr5:147575494..147576358-chr5:147640450..147641242,3	MCF-7	breast:
5	chr5:147499945..147500818-chr5:147558465..147559074,2	MCF-7	breast:
6	chr5:147575500..147576422-chr5:147685184..147686083,4	MCF-7	breast:
7	chr5:147526975..147528774-chr5:147550903..147554676,3	MCF-7	breast:
8	chr5:147558984..147559491-chr5:147862240..147862808,2	K562	blood:
9	chr5:147558456..147559147-chr5:147733007..147733596,2	MCF-7	breast:
10	chr5:147558395..147559990-chr5:148110263..148111226,5	MCF-7	breast:
11	chr5:147575494..147576358-chr5:147640450..147641333,4	MCF-7	breast:

No data

Extended variants
information (count: 918 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:918 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373170363	chr5:147554448-147554449	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs138165274	chr5:147554468-147554469	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs61575505	chr5:147554472-147554473	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs116605811	chr5:147554481-147554482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs9325082	chr5:147554607-147554608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs9325083	chr5:147554609-147554610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs547384391	chr5:147554683-147554684	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs191328217	chr5:147554739-147554740	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs374191149	chr5:147554808-147554809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs150570466	chr5:147554830-147554831	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs139555575	chr5:147554854-147554855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs369340612	chr5:147554858-147554859	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs539298476	chr5:147554877-147554878	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs557801882	chr5:147554888-147554889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs10052031	chr5:147554889-147554890	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
16	rs543030774	chr5:147554891-147554892	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs555474604	chr5:147554895-147554896	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs573644655	chr5:147554925-147554926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs148548116	chr5:147554937-147554938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs541270858	chr5:147554986-147554987	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs147123556	chr5:147554998-147554999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs386693393	chr5:147554999-147555000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs10074328	chr5:147555029-147555030	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs533069442	chr5:147555030-147555031	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs115140793	chr5:147555032-147555033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs563218887	chr5:147555039-147555040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370395738	chr5:147555093-147555094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs149694697	chr5:147555098-147555099	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147365654	chr5:147555139-147555140	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs75978170	chr5:147555153-147555154	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs114510302	chr5:147555212-147555213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs6881069	chr5:147555244-147555245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs76672944	chr5:147555251-147555252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10477363	chr5:147555347-147555348	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
35	rs139553141	chr5:147555359-147555360	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs551326340	chr5:147555415-147555416	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs569435803	chr5:147555456-147555457	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs537090685	chr5:147555506-147555507	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs11959136	chr5:147555507-147555508	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs573686382	chr5:147555530-147555531	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs534376374	chr5:147555538-147555539	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs9325084	chr5:147555544-147555545	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
43	rs373947097	chr5:147555561-147555562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs552767031	chr5:147555572-147555573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577391416	chr5:147555578-147555579	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs181406359	chr5:147555591-147555592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs7445725	chr5:147555635-147555636	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs575444052	chr5:147555646-147555647	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs543008073	chr5:147555652-147555653	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs2400493	chr5:147555653-147555654	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:76)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Hyperekplexia	16941485	CNVD
Myelofibrosis	22110671	CNVD
Crohn''s disease	20877625	CNVD
T-cell lymphomas	19863542	CNVD
Breast cancer	17603634	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:147552200-147559800	Weak transcription	Stomach Mucosa	stomach
2	chr5:147555800-147556600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr5:147556200-147556600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr5:147556400-147557200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr5:147559000-147561400	Enhancers	Hela-S3	cervix
6	chr5:147559800-147561400	Enhancers	Stomach Mucosa	stomach
7	chr5:147561400-147566000	Weak transcription	Stomach Mucosa	stomach
8	chr5:147564600-147566800	Enhancers	HUVEC	blood vessel
9	chr5:147565000-147566200	Enhancers	Monocytes-CD14+_RO01746	blood
10	chr5:147565000-147567400	Enhancers	Primary neutrophils fromperipheralblood	blood
11	chr5:147565200-147567200	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr5:147565400-147566400	Enhancers	Muscle Satellite Cultured Cells	--
13	chr5:147565400-147566600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:147565400-147566600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:147565600-147566400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr5:147565600-147566400	Enhancers	NH-A	brain
17	chr5:147565600-147566600	Enhancers	NHEK	skin
18	chr5:147565600-147567200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr5:147565600-147567200	Enhancers	Hela-S3	cervix
20	chr5:147565800-147566200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:147565800-147566600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr5:147566000-147566400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:147566000-147566600	Enhancers	Stomach Mucosa	stomach
24	chr5:147566200-147566600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr5:147566200-147566600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr5:147566200-147566800	Bivalent Enhancer	Primary hematopoietic stem cells	blood
27	chr5:147566200-147567200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:147566600-147567400	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr5:147566600-147571200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr5:147567200-147571800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr5:147567200-147572000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr5:147567200-147572200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr5:147567200-147572200	Weak transcription	Hela-S3	cervix
34	chr5:147567400-147572000	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr5:147570600-147571200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr5:147571200-147571400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr5:147571400-147572000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:147571400-147572800	Enhancers	HMEC	breast
39	chr5:147571800-147572200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr5:147572000-147572800	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr5:147572000-147572800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr5:147572000-147572800	Enhancers	Monocytes-CD14+_RO01746	blood
43	chr5:147572200-147572600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr5:147572200-147572800	Enhancers	NHEK	skin
45	chr5:147572200-147573200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:147572200-147573200	Enhancers	Hela-S3	cervix
47	chr5:147572200-147582000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr5:147572800-147573400	Enhancers	Rectal Smooth Muscle	rectum
49	chr5:147572800-147575600	Weak transcription	NHEK	skin
50	chr5:147572800-147575800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links