Variant report

Variant	esv3470922
Chromosome Location	chr5:68828896-68833594
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:68833553-68833648	GM10266	blood:	n/a	n/a
2	MYC	chr5:68833284-68833360	MCF-7	breast:	n/a	n/a
3	POLR2A	chr5:68833047-68833147	MCF-7	breast:	n/a	n/a
4	POLR2A	chr5:68833123-68833425	ProgFib	skin:	n/a	n/a
5	POLR2A	chr5:68831760-68831860	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:68791729..68794377-chr5:68827769..68829901,2	MCF-7	breast:

Variant related genes	Relation type
RNU6-724P	TF binding region

Extended variants
information (count: 104 )
Associated
traits (count: 109 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs533409522	chr5:68828904-68828905	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs552390887	chr5:68828905-68828906	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs547004067	chr5:68828906-68828907	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs535824372	chr5:68828912-68828913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs202034476	chr5:68828914-68828915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs187176096	chr5:68828915-68828916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs527907847	chr5:68828916-68828917	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs555264799	chr5:68828917-68828918	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs201377668	chr5:68828933-68828934	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs141432883	chr5:68828935-68828936	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs200658521	chr5:68828961-68828962	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs191183071	chr5:68828963-68828964	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs183743387	chr5:68829003-68829004	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs35267603	chr5:68829049-68829050	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs146120447	chr5:68829079-68829080	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577458469	chr5:68829083-68829084	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs536568771	chr5:68829095-68829096	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs532803011	chr5:68829106-68829107	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs548101305	chr5:68829131-68829132	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs6859722	chr5:68829207-68829208	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs562804045	chr5:68829242-68829243	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs193224838	chr5:68829247-68829248	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs185562603	chr5:68829290-68829291	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs386688894	chr5:68829315-68829316	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs561253538	chr5:68829316-68829317	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs528355219	chr5:68829318-68829319	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs546417104	chr5:68829319-68829320	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs571107388	chr5:68829335-68829336	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs534971001	chr5:68829336-68829337	Weak transcription ZNF genes & repeats Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs532133970	chr5:68829407-68829408	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs550653918	chr5:68829408-68829409	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568830752	chr5:68829410-68829411	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs28612873	chr5:68829420-68829421	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
34	rs547859464	chr5:68829435-68829436	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs77368551	chr5:68829459-68829460	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs201460217	chr5:68829492-68829493	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs140147362	chr5:68829507-68829508	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs577272248	chr5:68829512-68829513	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs559237516	chr5:68829565-68829566	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs577526370	chr5:68829604-68829605	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs538009777	chr5:68829610-68829611	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs556642073	chr5:68829621-68829622	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs574805439	chr5:68829626-68829627	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs113659836	chr5:68829653-68829654	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs560092846	chr5:68829655-68829656	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs190208323	chr5:68829662-68829663	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540145768	chr5:68829686-68829687	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs181757545	chr5:68829703-68829704	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs562757437	chr5:68829752-68829753	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs532195362	chr5:68829767-68829768	Weak transcription Strong transcription Enhancers	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:33 , 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	chr5:68826600-68830600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr5:68827200-68829000	Weak transcription	Fetal Intestine Large	intestine
11	chr5:68827200-68829200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr5:68827200-68831000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr5:68827600-68829200	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr5:68827600-68829600	Strong transcription	Fetal Intestine Small	intestine
15	chr5:68827600-68830200	Weak transcription	GM12878-XiMat	blood
16	chr5:68827600-68830800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr5:68827800-68829000	Weak transcription	Stomach Mucosa	stomach
18	chr5:68827800-68830200	Weak transcription	Brain Anterior Caudate	brain
19	chr5:68828000-68829600	Strong transcription	Liver	Liver
20	chr5:68828200-68829200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:68828200-68830800	Weak transcription	Gastric	stomach
22	chr5:68828200-68840800	Weak transcription	Pancreas	Pancrea
23	chr5:68828800-68829800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr5:68829000-68829400	Enhancers	Fetal Intestine Large	intestine
25	chr5:68829000-68829800	Enhancers	Stomach Mucosa	stomach
26	chr5:68829200-68829400	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr5:68829200-68829400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr5:68829200-68829400	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr5:68829200-68829400	Enhancers	Sigmoid Colon	Sigmoid Colon
30	chr5:68829400-68829600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr5:68829600-68831200	Weak transcription	Liver	Liver
32	chr5:68829600-68855400	Weak transcription	Fetal Intestine Small	intestine
33	chr5:68829800-68832000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links