Variant report

Variant	esv3434910
Chromosome Location	chr5:57317244-57340175
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	chr5:57338299..57341350-chr5:57344603..57346493,3	MCF-7	breast:
2	chr5:57321582..57323456-chr5:57334813..57337074,3	MCF-7	breast:
3	chr5:57323308..57324878-chr5:57332622..57334138,2	MCF-7	breast:
4	chr5:57316222..57318915-chr5:57334723..57336963,2	MCF-7	breast:
5	chr5:57334929..57336720-chr5:57754003..57756579,2	MCF-7	breast:
6	chr5:57339273..57341031-chr5:57351169..57352863,2	K562	blood:
7	chr5:57316222..57318915-chr5:57334723..57336963,2	MCF-7	breast:
8	chr5:57321582..57323456-chr5:57334813..57337074,3	MCF-7	breast:
9	chr5:57322198..57324541-chr5:57332410..57334350,3	MCF-7	breast:
10	chr5:57322198..57324541-chr5:57332410..57334350,3	MCF-7	breast:
11	chr5:57323308..57324878-chr5:57332622..57334138,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145632	chromatin interactions

Extended variants
information (count: 472 )
Associated
traits (count: 92 )

Variant overlapped rSNPs/rCNVs (count:472 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs79632243	chr5:57317319-57317320	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs149630778	chr5:57317328-57317329	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs181582956	chr5:57317453-57317454	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs576957970	chr5:57317471-57317472	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs80203293	chr5:57317483-57317484	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs541104069	chr5:57317488-57317489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs34374636	chr5:57317508-57317509	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113577494	chr5:57317519-57317520	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs74683483	chr5:57317530-57317531	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7736576	chr5:57317541-57317542	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs7713227	chr5:57317582-57317583	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs530446807	chr5:57317583-57317584	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs117242217	chr5:57317593-57317594	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs564058202	chr5:57317597-57317598	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs1454921	chr5:57317638-57317639	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs546705746	chr5:57317642-57317643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs559995465	chr5:57317648-57317649	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs530265552	chr5:57317664-57317665	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs34149108	chr5:57317675-57317676	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs112221471	chr5:57317763-57317764	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs187125794	chr5:57317772-57317773	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs537552330	chr5:57317793-57317794	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs537327324	chr5:57317869-57317870	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs371783457	chr5:57317917-57317918	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs570508987	chr5:57317931-57317932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs555901480	chr5:57317960-57317961	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs574309627	chr5:57317963-57317964	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs189500007	chr5:57317967-57317968	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs181498300	chr5:57317968-57317969	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs553008960	chr5:57318004-57318005	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs541729917	chr5:57318013-57318014	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs560373096	chr5:57318021-57318022	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375807667	chr5:57318026-57318027	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs574551433	chr5:57318031-57318032	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs148725546	chr5:57318079-57318080	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556992555	chr5:57318080-57318081	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540343912	chr5:57318088-57318089	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs7712926	chr5:57318096-57318097	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs572285035	chr5:57318114-57318115	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs114683234	chr5:57318133-57318134	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs146830753	chr5:57318144-57318145	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs540611509	chr5:57318160-57318161	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7714203	chr5:57318226-57318227	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs78553769	chr5:57318227-57318228	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576799484	chr5:57318234-57318235	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs1454920	chr5:57318295-57318296	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs563035478	chr5:57318317-57318318	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs140611521	chr5:57318321-57318322	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs530244443	chr5:57318322-57318323	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs548797463	chr5:57318342-57318343	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:92)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
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
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
Cancer	16751803	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
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Non-small cell lung cancer	21829676	CNVD
Breast cancer	22032731	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Breast cancer	17393978	CNVD
Cancer	21359685	CNVD
adenomatous polyposis	22470819	CNVD
Acute myeloid leukemia	20729466	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
Hepatocellular carcinoma	16750200	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
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Bladder cancer	21909424	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Myelofibrosis	22110671	CNVD
Lung cancer	21911935	CNVD
Breast cancer	17133270	CNVD
Breast cancer	19602461	CNVD
Renal cell carcinoma	18194544	CNVD
abnormal development	18461090	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Ovarian cancer	21720365	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57315400-57317600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr5:57315400-57317600	Enhancers	Left Ventricle	heart
3	chr5:57315400-57318400	Enhancers	Right Atrium	heart
4	chr5:57316000-57317400	Weak transcription	Fetal Lung	lung
5	chr5:57316200-57317400	Weak transcription	Aorta	Aorta
6	chr5:57316200-57317400	Weak transcription	Hela-S3	cervix
7	chr5:57316200-57318200	Weak transcription	Right Ventricle	heart
8	chr5:57316400-57317400	Weak transcription	HUVEC	blood vessel
9	chr5:57316600-57317600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr5:57316800-57317800	Weak transcription	Spleen	Spleen
11	chr5:57317000-57317800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr5:57317200-57317400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr5:57317200-57318000	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr5:57317200-57318400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:57317200-57319000	Enhancers	Placenta	Placenta
16	chr5:57317400-57317600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:57317400-57318000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr5:57317400-57318000	Enhancers	Fetal Lung	lung
19	chr5:57317400-57318200	Enhancers	Aorta	Aorta
20	chr5:57317400-57318200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
21	chr5:57317400-57318400	Enhancers	Hela-S3	cervix
22	chr5:57317600-57317800	Enhancers	HUVEC	blood vessel
23	chr5:57317600-57318600	Enhancers	Ovary	ovary
24	chr5:57317800-57318000	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr5:57317800-57318000	Enhancers	Spleen	Spleen
26	chr5:57317800-57318200	Enhancers	A549	lung
27	chr5:57317800-57318400	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr5:57318000-57318200	Enhancers	Lung	lung
29	chr5:57318200-57318400	Enhancers	Right Ventricle	heart
30	chr5:57318400-57321200	Weak transcription	Right Ventricle	heart
31	chr5:57321400-57321600	Enhancers	Right Ventricle	heart
32	chr5:57332400-57332600	Enhancers	Stomach Mucosa	stomach
33	chr5:57332600-57338200	Weak transcription	Stomach Mucosa	stomach
34	chr5:57334600-57335000	Enhancers	Fetal Brain Male	brain
35	chr5:57334600-57335000	Enhancers	Right Atrium	heart
36	chr5:57335200-57336000	Enhancers	Pancreatic Islets	Pancreatic Islet
37	chr5:57335200-57339000	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr5:57335800-57336200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:57335800-57336200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr5:57335800-57336200	Enhancers	Liver	Liver
41	chr5:57335800-57336800	Enhancers	HMEC	breast
42	chr5:57335800-57337000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr5:57335800-57337000	Enhancers	NHDF-Ad	bronchial
44	chr5:57335800-57337200	Enhancers	HSMM	muscle
45	chr5:57335800-57337400	Enhancers	Muscle Satellite Cultured Cells	--
46	chr5:57336000-57336600	Enhancers	Osteobl	bone
47	chr5:57336000-57336800	Enhancers	NHEK	skin
48	chr5:57336000-57337000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:57336000-57337000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr5:57336000-57337000	Enhancers	Hela-S3	cervix

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