Variant report

Variant	esv2753894
Chromosome Location	chr5:60731458-60777345
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:60743838..60746169-chr5:60756633..60758199,2	MCF-7	breast:
2	chr5:60734169..60736983-chr5:60739460..60742166,2	MCF-7	breast:
3	chr5:60755091..60757067-chr5:60758123..60759831,2	K562	blood:
4	chr5:60749146..60750936-chr5:60757361..60759917,2	MCF-7	breast:
5	chr5:60743838..60746169-chr5:60756633..60758199,2	MCF-7	breast:
6	chr5:60724092..60725738-chr5:60745887..60748387,2	MCF-7	breast:
7	chr5:60743212..60746123-chr5:60754796..60756485,2	MCF-7	breast:
8	chr5:60734169..60736983-chr5:60739460..60742166,2	MCF-7	breast:
9	chr5:60752201..60754945-chr5:60755647..60758882,3	K562	blood:
10	chr5:60743212..60746123-chr5:60754796..60756485,2	MCF-7	breast:
11	chr5:60752201..60754945-chr5:60755647..60758882,3	K562	blood:
12	chr5:60749146..60750936-chr5:60757361..60759917,2	MCF-7	breast:
13	chr5:60653360..60654307-chr5:60764335..60765155,2	MCF-7	breast:
14	chr5:60755091..60757067-chr5:60758123..60759831,2	K562	blood:
15	chr5:60351160..60351880-chr5:60764388..60765010,2	MCF-7	breast:

No data

Extended variants
information (count: 1421 )
Associated
traits (count: 90 )

Variant overlapped rSNPs/rCNVs (count:1421 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7709645	chr5:60731458-60731459	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	disease
2	rs548767722	chr5:60731525-60731526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568780683	chr5:60731528-60731529	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs537693441	chr5:60731626-60731627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs145474227	chr5:60731655-60731656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs114672653	chr5:60731686-60731687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs539805375	chr5:60731713-60731714	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs553217604	chr5:60731754-60731755	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs371753640	chr5:60731771-60731772	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs573256798	chr5:60731796-60731797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs540840514	chr5:60731812-60731813	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs553595154	chr5:60731818-60731819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373736293	chr5:60731841-60731842	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs10042052	chr5:60731898-60731899	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs574291460	chr5:60731899-60731900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs543354557	chr5:60731901-60731902	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs565051743	chr5:60731920-60731921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532042249	chr5:60731942-60731943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs534312337	chr5:60731976-60731977	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs559199846	chr5:60731977-60731978	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs185622589	chr5:60731984-60731985	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566126712	chr5:60732027-60732028	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs112894398	chr5:60732047-60732048	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs548805128	chr5:60732083-60732084	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs188956051	chr5:60732095-60732096	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs531116739	chr5:60732159-60732160	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs551024508	chr5:60732177-60732178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs113265471	chr5:60732214-60732215	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs140917417	chr5:60732270-60732271	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs377030820	chr5:60732315-60732316	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs62368665	chr5:60732343-60732344	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs532462381	chr5:60732368-60732369	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs553296216	chr5:60732370-60732371	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs566632438	chr5:60732452-60732453	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs535602171	chr5:60732472-60732473	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs544165605	chr5:60732517-60732518	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs532833057	chr5:60732522-60732523	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs7714712	chr5:60732552-60732553	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs144634240	chr5:60732575-60732576	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138590966	chr5:60732595-60732596	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs577033034	chr5:60732615-60732616	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372075197	chr5:60732656-60732657	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs372862801	chr5:60732697-60732698	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs563160788	chr5:60732728-60732729	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs149256341	chr5:60732751-60732752	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs528088833	chr5:60732832-60732833	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs193063741	chr5:60732848-60732849	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs376108313	chr5:60732888-60732889	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs561751717	chr5:60732893-60732894	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575248191	chr5:60732950-60732951	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:90)

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
Intellectual disability	22102821	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
Prostate cancer	21965145	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	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
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
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Colorectal cancer	16774939	CNVD
Myelofibrosis	22110671	CNVD
Neuroticism	17667963	CNVD

Chromatin state (count:1205 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:60711000-60735800	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr5:60713400-60732800	Weak transcription	Small Intestine	intestine
3	chr5:60719800-60745200	Weak transcription	NHDF-Ad	bronchial
4	chr5:60720000-60733800	Weak transcription	NHLF	lung
5	chr5:60720000-60736400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr5:60720000-60737400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:60720400-60734000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:60720600-60743200	Weak transcription	HSMMtube	muscle
9	chr5:60721000-60733000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr5:60725600-60732600	Weak transcription	Fetal Heart	heart
11	chr5:60725600-60737400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr5:60725800-60732800	Weak transcription	Esophagus	oesophagus
13	chr5:60725800-60732800	Weak transcription	Pancreas	Pancrea
14	chr5:60726000-60732800	Weak transcription	Left Ventricle	heart
15	chr5:60726000-60732800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:60726000-60733800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:60726000-60736600	Weak transcription	Right Atrium	heart
18	chr5:60726800-60745600	Weak transcription	Stomach Mucosa	stomach
19	chr5:60727000-60732000	Weak transcription	Liver	Liver
20	chr5:60728400-60732400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr5:60728400-60732600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr5:60728400-60732600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr5:60728400-60733400	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr5:60728400-60733600	Weak transcription	Fetal Brain Male	brain
25	chr5:60728400-60734000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr5:60728400-60734000	Weak transcription	HSMM	muscle
27	chr5:60728400-60737200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr5:60728400-60745400	Weak transcription	Ovary	ovary
29	chr5:60728600-60732600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr5:60728600-60732800	Weak transcription	HMEC	breast
31	chr5:60728600-60732800	Weak transcription	NHEK	skin
32	chr5:60728600-60734000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr5:60728600-60734000	Weak transcription	Brain Germinal Matrix	brain
34	chr5:60728600-60737400	Weak transcription	Fetal Lung	lung
35	chr5:60728600-60737400	Weak transcription	Fetal Stomach	stomach
36	chr5:60728800-60732800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:60728800-60733800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr5:60728800-60737600	Weak transcription	Colon Smooth Muscle	Colon
39	chr5:60729000-60732200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:60729000-60732600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:60729000-60737000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr5:60729600-60732200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr5:60729600-60733000	Weak transcription	Gastric	stomach
44	chr5:60730000-60731600	Enhancers	Brain Hippocampus Middle	brain
45	chr5:60730000-60732800	Weak transcription	Psoas Muscle	Psoas
46	chr5:60730200-60737600	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr5:60730400-60733000	Enhancers	Brain Angular Gyrus	brain
48	chr5:60730400-60733200	Enhancers	Brain Cingulate Gyrus	brain
49	chr5:60730400-60735800	Enhancers	Brain Substantia Nigra	brain
50	chr5:60731000-60732000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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