Variant report

Variant	esv1826846
Chromosome Location	chr5:79956218-79961861
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:79948482..79951173-chr5:79961260..79964699,4	MCF-7	breast:
2	chr5:79955227..79957557-chr5:79958269..79961071,2	K562	blood:
3	chr5:79958590..79961048-chr5:80005503..80007376,2	K562	blood:
4	chr5:79956607..79959193-chr5:79962502..79964568,2	MCF-7	breast:
5	chr5:79959827..79961745-chr5:79962101..79964799,2	K562	blood:
6	chr5:79955227..79957557-chr5:79958269..79961071,2	K562	blood:
7	chr5:79950476..79953342-chr5:79955489..79957771,3	K562	blood:
8	chr5:79950067..79952417-chr5:79958282..79961440,3	K562	blood:
9	chr5:79950633..79952503-chr5:79956783..79958628,2	MCF-7	breast:
10	chr5:79949469..79952058-chr5:79960023..79961648,2	MCF-7	breast:
11	chr5:79959818..79962346-chr5:79962374..79963921,2	MCF-7	breast:
12	chr5:79956480..79958255-chr5:79962360..79963991,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000113318	chromatin interactions
ENSG00000228716	chromatin interactions

Extended variants
information (count: 275 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:275 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs549645787	chr5:79956254-79956255	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs549970415	chr5:79956266-79956267	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs569865327	chr5:79956268-79956269	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs567076167	chr5:79956310-79956311	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs549615675	chr5:79956331-79956332	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs566268589	chr5:79956335-79956336	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs543350033	chr5:79956391-79956392	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs245102	chr5:79956397-79956398	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs72765567	chr5:79956414-79956415	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs534997746	chr5:79956429-79956430	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs144690226	chr5:79956438-79956439	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs148500687	chr5:79956440-79956441	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs182983379	chr5:79956470-79956471	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs557197681	chr5:79956500-79956501	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs187617067	chr5:79956522-79956523	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs375678723	chr5:79956543-79956544	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs191176586	chr5:79956553-79956554	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs553218525	chr5:79956564-79956565	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs572796734	chr5:79956580-79956581	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs1677682	chr5:79956593-79956594	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs571638400	chr5:79956623-79956624	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs537019311	chr5:79956674-79956675	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs142872360	chr5:79956682-79956683	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs557310818	chr5:79956687-79956688	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs530522406	chr5:79956707-79956708	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs543873893	chr5:79956708-79956709	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs151052154	chr5:79956742-79956743	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs112892171	chr5:79956767-79956768	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
29	rs187253	chr5:79956799-79956800	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs1677683	chr5:79956828-79956829	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs528519406	chr5:79956862-79956863	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs555676961	chr5:79956928-79956929	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs368431034	chr5:79956934-79956935	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs374645701	chr5:79956968-79956969	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs571624760	chr5:79957006-79957007	Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs537564439	chr5:79957019-79957020	Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs183437970	chr5:79957023-79957024	Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs551060354	chr5:79957033-79957034	Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs73132417	chr5:79957038-79957039	Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs140384852	chr5:79957045-79957046	Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs149901122	chr5:79957081-79957082	Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs79411568	chr5:79957090-79957091	Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs1677690	chr5:79957099-79957100	Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs573101845	chr5:79957102-79957103	Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs11950480	chr5:79957113-79957114	Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
46	rs1650685	chr5:79957117-79957118	Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
47	rs1650684	chr5:79957125-79957126	Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
48	rs1650683	chr5:79957147-79957148	Weak transcription Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
49	rs560626149	chr5:79957276-79957277	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs542704500	chr5:79957277-79957278	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
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	22032731	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Prostate cancer	21965145	CNVD
Ovarian cancer	20844748	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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	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
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelofibrosis	22110671	CNVD
craniofacial dysmorphism	21918468	CNVD
lymphocytic leukemia	21291569	CNVD
Lung cancer	16773561	CNVD
Multiple myeloma	16616336	CNVD
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Ovarian cancer	21781307	CNVD

Chromatin state (count:280 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:79951200-79963200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:79951400-79963200	Weak transcription	Right Ventricle	heart
3	chr5:79951600-79959000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr5:79951600-79962600	Weak transcription	Esophagus	oesophagus
5	chr5:79951600-79963200	Weak transcription	Pancreas	Pancrea
6	chr5:79951600-79963400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:79951600-79963400	Weak transcription	Brain Germinal Matrix	brain
8	chr5:79951600-79963600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr5:79951600-79969200	Weak transcription	Stomach Mucosa	stomach
10	chr5:79951600-79972200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr5:79951600-80015600	Weak transcription	Small Intestine	intestine
12	chr5:79951800-79957600	Weak transcription	Fetal Brain Male	brain
13	chr5:79951800-79960200	Weak transcription	Colon Smooth Muscle	Colon
14	chr5:79951800-79964000	Weak transcription	Brain Substantia Nigra	brain
15	chr5:79951800-79982800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr5:79952000-79959800	Weak transcription	HMEC	breast
17	chr5:79952000-79963800	Weak transcription	Fetal Heart	heart
18	chr5:79952200-79956400	Strong transcription	Fetal Muscle Leg	muscle
19	chr5:79952200-79956400	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr5:79952200-79964200	Weak transcription	Brain Angular Gyrus	brain
21	chr5:79952200-79964200	Strong transcription	Fetal Muscle Trunk	muscle
22	chr5:79952200-79964200	Weak transcription	NHLF	lung
23	chr5:79952200-79975400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr5:79952400-79956600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr5:79952400-79956600	Weak transcription	A549	lung
26	chr5:79952400-79956800	Strong transcription	Brain Inferior Temporal Lobe	brain
27	chr5:79952400-79958200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr5:79952400-79959800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:79952400-79963200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr5:79952400-79963400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr5:79952400-79965000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr5:79952400-79967400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr5:79952400-79975400	Weak transcription	HSMMtube	muscle
34	chr5:79952400-79976600	Strong transcription	Fetal Thymus	thymus
35	chr5:79952400-79976800	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr5:79952400-79983000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr5:79952600-79956400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr5:79952600-79959000	Strong transcription	Primary B cells from peripheral blood	blood
39	chr5:79952600-79959400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:79952600-79960600	Weak transcription	Hela-S3	cervix
41	chr5:79952600-79962200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr5:79952600-79963000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr5:79952600-79963200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr5:79952600-79963800	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr5:79952600-79965000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr5:79952600-79985200	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr5:79952600-79991600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr5:79952800-79957000	Strong transcription	Fetal Intestine Small	intestine
49	chr5:79952800-79958800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:79952800-79959800	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links