Variant report

Variant	esv1818751
Chromosome Location	chr5:68828122-68851608
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:44)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:44 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr5:68834691-68834785	HepG2	liver:	n/a	n/a
2	CEBPB	chr5:68834723-68834923	HepG2	liver:	n/a	n/a
3	CTCF	chr5:68833702-68833774	Hela-S3	cervix:	n/a	n/a
4	CTCF	chr5:68833553-68833648	GM10266	blood:	n/a	n/a
5	CTCF	chr5:68833712-68833856	Pancreas_OC	pancreas:	n/a	n/a
6	CTCF	chr5:68838439-68838481	GM20000	blood:	n/a	n/a
7	CTCF	chr5:68833676-68833858	LNCaP	prostate:	n/a	n/a
8	CTCF	chr5:68838421-68838427	GM20000	blood:	n/a	n/a
9	CTCF	chr5:68833712-68833842	LNCaP	prostate:	n/a	n/a
10	FOSL2	chr5:68834556-68834951	HepG2	liver:	n/a	n/a
11	FOXA1	chr5:68840155-68840694	HepG2	liver:	n/a	n/a
12	FOXA1	chr5:68842830-68843191	HepG2	liver:	n/a	chr5:68842988-68843000
13	FOXA1	chr5:68834450-68834935	HepG2	liver:	n/a	n/a
14	JUND	chr5:68834705-68834820	HepG2	liver:	n/a	n/a
15	JUND	chr5:68834583-68834856	HepG2	liver:	n/a	n/a
16	MYBL2	chr5:68834548-68834980	HepG2	liver:	n/a	n/a
17	MYC	chr5:68840594-68840707	MCF-7	breast:	n/a	n/a
18	MYC	chr5:68833284-68833360	MCF-7	breast:	n/a	n/a
19	POLR2A	chr5:68847935-68848017	MCF-7	breast:	n/a	n/a
20	POLR2A	chr5:68833123-68833425	ProgFib	skin:	n/a	n/a
21	POLR2A	chr5:68835590-68835691	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr5:68831760-68831860	MCF-7	breast:	n/a	n/a
23	POLR2A	chr5:68835285-68835304	MCF-7	breast:	n/a	n/a
24	POLR2A	chr5:68840766-68840832	A549	lung:	n/a	n/a
25	POLR2A	chr5:68834606-68834796	HepG2	liver:	n/a	n/a
26	POLR2A	chr5:68835561-68835579	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr5:68840747-68840759	A549	lung:	n/a	n/a
28	POLR2A	chr5:68847053-68847135	Gliobla	brain:	n/a	n/a
29	POLR2A	chr5:68835482-68835531	MCF-7	breast:	n/a	n/a
30	POLR2A	chr5:68833047-68833147	MCF-7	breast:	n/a	n/a
31	POLR2A	chr5:68834348-68834409	MCF-7	breast:	n/a	n/a
32	POLR2A	chr5:68844581-68844753	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr5:68847934-68847986	A549	lung:	n/a	n/a
34	POLR2A	chr5:68840912-68840954	MCF-7	breast:	n/a	n/a
35	POLR2A	chr5:68840837-68840852	A549	lung:	n/a	n/a
36	POLR2A	chr5:68840874-68840902	MCF-7	breast:	n/a	n/a
37	POLR2A	chr5:68838476-68838489	MCF-7	breast:	n/a	n/a
38	POLR2A	chr5:68835315-68835333	MCF-7	breast:	n/a	n/a
39	POLR2A	chr5:68838423-68838427	MCF-7	breast:	n/a	n/a
40	POLR2A	chr5:68844558-68844760	H1-hESC	embryonic stem cell:	n/a	n/a
41	RXRA	chr5:68834571-68834922	HepG2	liver:	n/a	n/a
42	SP1	chr5:68834522-68834969	HepG2	liver:	n/a	n/a
43	SP1	chr5:68842931-68843164	HepG2	liver:	n/a	n/a
44	TCF12	chr5:68834620-68834821	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:68791729..68794377-chr5:68827769..68829901,2	MCF-7	breast:
2	chr5:68786843..68790127-chr5:68821932..68828319,7	MCF-7	breast:
3	chr5:68711082..68712894-chr5:68825364..68828331,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000238740	TF binding region
OCLN	TF binding region
GTF2H2C	TF binding region
RNU6-724P	TF binding region
ENSG00000197822	chromatin interactions
ENSG00000152939	chromatin interactions

Extended variants
information (count: 321 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:321 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs547124095	chr5:68828126-68828127	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs115136357	chr5:68828186-68828187	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs532570503	chr5:68828221-68828222	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs550958047	chr5:68828236-68828237	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs569882730	chr5:68828252-68828253	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs74794923	chr5:68828257-68828258	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs28529133	chr5:68828296-68828297	Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs567448447	chr5:68828321-68828322	Weak transcription Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs532632171	chr5:68828349-68828350	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs115224058	chr5:68828372-68828373	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs562856629	chr5:68828412-68828413	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs183990212	chr5:68828429-68828430	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs570982287	chr5:68828430-68828431	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs538263536	chr5:68828465-68828466	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs556901438	chr5:68828516-68828517	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs575877401	chr5:68828518-68828519	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs188482912	chr5:68828520-68828521	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs554922934	chr5:68828524-68828525	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs150895774	chr5:68828533-68828534	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs28482436	chr5:68828548-68828549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548471228	chr5:68828549-68828550	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs565392036	chr5:68828561-68828562	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs532632832	chr5:68828568-68828569	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs544642813	chr5:68828645-68828646	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs562901462	chr5:68828655-68828656	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs530756393	chr5:68828672-68828673	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369061489	chr5:68828720-68828721	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs549270445	chr5:68828738-68828739	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs200582624	chr5:68828795-68828796	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs567403325	chr5:68828801-68828802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs71576926	chr5:68828803-68828804	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
32	rs546355773	chr5:68828805-68828806	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs373564373	chr5:68828826-68828827	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs201239158	chr5:68828851-68828852	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs376503852	chr5:68828852-68828853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs370858264	chr5:68828854-68828855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374239552	chr5:68828855-68828856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571044105	chr5:68828864-68828865	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs544730542	chr5:68828865-68828866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs144351542	chr5:68828866-68828867	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
41	rs182487485	chr5:68828873-68828874	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs564527301	chr5:68828878-68828879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs200103849	chr5:68828886-68828887	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs533409522	chr5:68828904-68828905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552390887	chr5:68828905-68828906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs547004067	chr5:68828906-68828907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535824372	chr5:68828912-68828913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs202034476	chr5:68828914-68828915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs187176096	chr5:68828915-68828916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs527907847	chr5:68828916-68828917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:109)

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
Multiple myeloma	17550852	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ovarian cancer	21781307	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
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
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
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
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
abnormal development	18461090	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Myelodysplastic syndrome	18663149	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Sezary syndrome	18413736	CNVD
Ewing''s sarcoma	17952124	CNVD
Breast cancer	21990379	CNVD
Hirschsprung''s Disease	21712996	CNVD
Apoptosis	19488400	CNVD
Breast cancer	22048815	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Acute monocytic leukemia	16498392	CNVD
Colorectal cancer	20459617	CNVD
Gastric adenocarcinoma	19115996	CNVD
Spinal muscular atrophy	17160897	CNVD
Spinal muscular atrophy	17668391	CNVD
Spinal muscular atrophy	17668395	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Pseudo-TORCH syndrome	20727516	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68815800-68831000	Weak transcription	HepG2	liver
2	chr5:68821800-68830800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr5:68822400-68829400	Weak transcription	Fetal Stomach	stomach
4	chr5:68823600-68829200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr5:68824000-68830600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr5:68824000-68855400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr5:68824200-68829600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr5:68824400-68832400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:68826000-68828200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr5:68826600-68828200	Enhancers	Pancreas	Pancrea
11	chr5:68826600-68830600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr5:68826800-68828200	Enhancers	Gastric	stomach
13	chr5:68827200-68829000	Weak transcription	Fetal Intestine Large	intestine
14	chr5:68827200-68829200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:68827200-68831000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr5:68827600-68829200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr5:68827600-68829600	Strong transcription	Fetal Intestine Small	intestine
18	chr5:68827600-68830200	Weak transcription	GM12878-XiMat	blood
19	chr5:68827600-68830800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr5:68827800-68828800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr5:68827800-68829000	Weak transcription	Stomach Mucosa	stomach
22	chr5:68827800-68830200	Weak transcription	Brain Anterior Caudate	brain
23	chr5:68828000-68828200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr5:68828000-68828400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:68828000-68829600	Strong transcription	Liver	Liver
26	chr5:68828200-68829200	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr5:68828200-68830800	Weak transcription	Gastric	stomach
28	chr5:68828200-68840800	Weak transcription	Pancreas	Pancrea
29	chr5:68828800-68829800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr5:68829000-68829400	Enhancers	Fetal Intestine Large	intestine
31	chr5:68829000-68829800	Enhancers	Stomach Mucosa	stomach
32	chr5:68829200-68829400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr5:68829200-68829400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr5:68829200-68829400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr5:68829200-68829400	Enhancers	Sigmoid Colon	Sigmoid Colon
36	chr5:68829400-68829600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr5:68829600-68831200	Weak transcription	Liver	Liver
38	chr5:68829600-68855400	Weak transcription	Fetal Intestine Small	intestine
39	chr5:68829800-68832000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:68840800-68841000	Enhancers	Pancreas	Pancrea
41	chr5:68840800-68841000	Enhancers	HepG2	liver
42	chr5:68841000-68841200	Weak transcription	Pancreas	Pancrea
43	chr5:68841000-68855200	Weak transcription	HepG2	liver
44	chr5:68844400-68855400	Weak transcription	Fetal Intestine Large	intestine
45	chr5:68845800-68855600	Weak transcription	H9 Cell Line	embryonic stem cell

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