Variant report

Variant	esv1851387
Chromosome Location	chr5:41336050-41423631
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:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:41404307..41406613-chr5:41408825..41411220,2	MCF-7	breast:
2	chr5:41415119..41417531-chr5:41419550..41421583,3	K562	blood:
3	chr5:41378475..41380792-chr5:41384904..41386684,2	K562	blood:
4	chr5:41378475..41380792-chr5:41384904..41386684,2	K562	blood:
5	chr5:41347768..41348307-chr5:41519600..41520181,3	MCF-7	breast:
6	chr5:41372571..41374736-chr5:41376933..41378447,2	MCF-7	breast:
7	chr5:41284176..41286703-chr5:41413891..41416832,2	MCF-7	breast:
8	chr5:41372571..41374736-chr5:41376933..41378447,2	MCF-7	breast:
9	chr5:41270377..41271135-chr5:41338202..41338982,2	MCF-7	breast:
10	chr5:41415903..41418047-chr5:41420031..41421583,2	K562	blood:
11	chr5:41404307..41406613-chr5:41408825..41411220,2	MCF-7	breast:
12	chr5:41352607..41356227-chr5:41356337..41358216,4	MCF-7	breast:
13	chr5:41352607..41356227-chr5:41356337..41358216,4	MCF-7	breast:
14	chr5:41358950..41361071-chr5:41361636..41364142,2	K562	blood:
15	chr5:41270300..41271189-chr5:41346492..41347094,2	MCF-7	breast:
16	chr5:41358950..41361071-chr5:41361636..41364142,2	K562	blood:
17	chr5:41415903..41418047-chr5:41420031..41421583,2	K562	blood:
18	chr5:41415119..41417531-chr5:41419550..41421583,3	K562	blood:
19	chr5:41347520..41348251-chr5:41519488..41520504,4	MCF-7	breast:
20	chr5:40904574..40905604-chr5:41346513..41347365,3	MCF-7	breast:

No data

Extended variants
information (count: 3395 )
Associated
traits (count: 95 )

Variant overlapped rSNPs/rCNVs (count:3395 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6872806	chr5:41336050-41336051	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs118053852	chr5:41336054-41336055	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs531082671	chr5:41336062-41336063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs376377329	chr5:41336080-41336081	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs535268964	chr5:41336128-41336129	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs189020398	chr5:41336133-41336134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs573330958	chr5:41336153-41336154	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs540633196	chr5:41336158-41336159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs117805403	chr5:41336250-41336251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs181697102	chr5:41336273-41336274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs6876855	chr5:41336292-41336293	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562968447	chr5:41336343-41336344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs146584215	chr5:41336348-41336349	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs117921597	chr5:41336370-41336371	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs559819465	chr5:41336469-41336470	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs16871228	chr5:41336470-41336471	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs551796881	chr5:41336476-41336477	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs570099179	chr5:41336487-41336488	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs186352641	chr5:41336526-41336527	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs550072782	chr5:41336539-41336540	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs140111817	chr5:41336577-41336578	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs531100909	chr5:41336581-41336582	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs535645352	chr5:41336586-41336587	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs553960569	chr5:41336618-41336619	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs567015723	chr5:41336623-41336624	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs534277319	chr5:41336674-41336675	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs143783688	chr5:41336678-41336679	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs377214942	chr5:41336682-41336683	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs577146286	chr5:41336685-41336686	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs544252531	chr5:41336723-41336724	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs556831916	chr5:41336764-41336765	Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs765177	chr5:41336784-41336785	Weak transcription Enhancers Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs570880879	chr5:41336811-41336812	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs765176	chr5:41336828-41336829	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs151308138	chr5:41336832-41336833	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs527421285	chr5:41336860-41336861	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs189534349	chr5:41336876-41336877	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs180674588	chr5:41336881-41336882	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs368258013	chr5:41336925-41336926	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531355719	chr5:41336941-41336942	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs549467716	chr5:41336982-41336983	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549101947	chr5:41336998-41336999	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs568345237	chr5:41337006-41337007	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs77331960	chr5:41337048-41337049	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs150494639	chr5:41337053-41337054	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs62363772	chr5:41337096-41337097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs565864312	chr5:41337107-41337108	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs534314959	chr5:41337121-41337122	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs186063955	chr5:41337139-41337140	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs190929356	chr5:41337148-41337149	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:95)

Disease	PMID	Source
Cervical squamous cell carcinoma	21590768	CNVD
Non-small cell lung cancer	20864512	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	16783165	CNVD
Thyroid cancer	19087340	CNVD
Liposarcoma	21253554	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Cervical Cancer	21857958	CNVD
Cervical cancer	21062161	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	19960244	CNVD
Oral cancer	21386901	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Ewing''s sarcoma	17952124	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Cervical cancer	18559093	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Metanephric adenoma	20802469	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
Colorectal cancer	21645411	CNVD
Gastric cancer	22152101	CNVD
Oesophago-gastric ulcer	22152101	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
DNA damage stimulus	22844521	CNVD
DNA repair	22844521	CNVD
Breast cancer	21785460	CNVD
Spinal muscular atrophy	22422766	CNVD
Spinal muscular atrophy	22558076	CNVD
Spinal muscular atrophy	21320981	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Cancer	16751803	CNVD
Breast cancer	16608533	CNVD
Autism	22495311	CNVD
Intellectual disability	22102821	CNVD
Prostate cancer	21965145	CNVD
Cancer	21183584	CNVD
Ovarian cancer	20844748	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Non-small cell lung cancer	19010865	CNVD
Melanoma	18172304	CNVD
Glioblastoma multiforme	22286061	CNVD
Ovarian cancer	21720365	CNVD
Lung cancer	18438408	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	19553991	CNVD
Lung cancer	19553991	CNVD
Melanoma	19553991	CNVD
Ovarian cancer	19553991	CNVD
Prostate cancer	19553991	CNVD
Non-small cell lung cancer	17156491	CNVD
Breast cancer	17133270	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Pleomorphic liposarcoma	18784837	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Hodgkin''s lymphoma	17606441	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Hepatocellular carcinoma	18929564	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:41333400-41337200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr5:41333800-41345800	Enhancers	Pancreatic Islets	Pancreatic Islet
3	chr5:41334000-41336600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr5:41334000-41337600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr5:41334200-41336200	Enhancers	Fetal Heart	heart
6	chr5:41334800-41336200	Weak transcription	Adipose Nuclei	Adipose
7	chr5:41334800-41336200	Enhancers	Brain Cingulate Gyrus	brain
8	chr5:41334800-41336200	Enhancers	Ovary	ovary
9	chr5:41335000-41336800	Enhancers	Brain Substantia Nigra	brain
10	chr5:41335000-41336800	Weak transcription	Right Atrium	heart
11	chr5:41335200-41336800	Enhancers	Brain Anterior Caudate	brain
12	chr5:41335200-41337400	Enhancers	Colon Smooth Muscle	Colon
13	chr5:41335400-41336600	Weak transcription	Left Ventricle	heart
14	chr5:41335400-41336800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr5:41335400-41336800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:41335400-41337400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr5:41335400-41338200	Weak transcription	Fetal Lung	lung
18	chr5:41335600-41336200	Enhancers	Brain Hippocampus Middle	brain
19	chr5:41335600-41336600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:41335800-41336800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr5:41335800-41337400	Enhancers	Right Ventricle	heart
22	chr5:41336000-41337000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr5:41336000-41338200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr5:41336200-41336400	Weak transcription	Fetal Heart	heart
25	chr5:41336200-41336600	Weak transcription	Ovary	ovary
26	chr5:41336200-41337400	Enhancers	Adipose Nuclei	Adipose
27	chr5:41336400-41337000	Genic enhancers	Fetal Heart	heart
28	chr5:41336600-41336800	Enhancers	Ovary	ovary
29	chr5:41336600-41337400	Enhancers	Left Ventricle	heart
30	chr5:41336600-41337600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:41336800-41337000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:41336800-41337000	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr5:41336800-41337400	Enhancers	Right Atrium	heart
34	chr5:41336800-41341400	Weak transcription	Ovary	ovary
35	chr5:41337000-41337400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr5:41337000-41337600	Weak transcription	Fetal Heart	heart
37	chr5:41337200-41337400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr5:41337400-41340600	Weak transcription	Left Ventricle	heart
39	chr5:41337400-41340600	Weak transcription	Right Ventricle	heart
40	chr5:41337400-41345400	Weak transcription	Right Atrium	heart
41	chr5:41337600-41337800	Enhancers	Fetal Heart	heart
42	chr5:41337800-41338200	Weak transcription	Fetal Heart	heart
43	chr5:41338200-41338600	Enhancers	Fetal Lung	lung
44	chr5:41338200-41341600	Enhancers	Fetal Heart	heart
45	chr5:41338400-41338600	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr5:41340600-41341400	Enhancers	Left Ventricle	heart
47	chr5:41340600-41341400	Enhancers	Right Ventricle	heart
48	chr5:41341400-41341600	Enhancers	Ovary	ovary
49	chr5:41341400-41350000	Weak transcription	Left Ventricle	heart
50	chr5:41341600-41343800	Weak transcription	Fetal Heart	heart

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