Variant report

Variant	esv3371082
Chromosome Location	chr5:68261347-68261940
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	BCL3	chr5:68260450-68262189	GM12878	blood:	n/a	n/a
2	BCL3	chr5:68260303-68262196	GM12878	blood:	n/a	n/a
3	CTCF	chr5:68261771-68261782	GM13976	blood:	n/a	n/a
4	CTCF	chr5:68261862-68261988	GM19239	blood:	n/a	n/a
5	NFATC1	chr5:68261608-68262132	GM12878	blood:	n/a	n/a
6	NFATC1	chr5:68260253-68261422	GM12878	blood:	n/a	n/a
7	NFATC1	chr5:68260454-68261635	GM12878	blood:	n/a	n/a
8	NFATC1	chr5:68261711-68262150	GM12878	blood:	n/a	n/a
9	NR2C2	chr5:68260475-68261442	GM12878	blood:	n/a	n/a
10	PBX3	chr5:68261287-68262073	GM12878	blood:	n/a	n/a
11	POLR2A	chr5:68261772-68261775	Gliobla	brain:	n/a	n/a
12	POLR2A	chr5:68261821-68261826	Gliobla	brain:	n/a	n/a
13	SUZ12	chr5:68260542-68261541	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:68258016..68260416-chr5:68261824..68264961,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000249335	TF binding region
ENSG00000250066	chromatin interactions

Extended variants
information (count: 66 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:66 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186727544	chr5:68261348-68261349	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs570506240	chr5:68261367-68261368	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs140298509	chr5:68261385-68261386	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs373367543	chr5:68261386-68261387	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs114512080	chr5:68261388-68261389	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs114188193	chr5:68261393-68261394	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs542753120	chr5:68261401-68261402	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs111074666	chr5:68261406-68261407	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs377555166	chr5:68261407-68261408	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs576016246	chr5:68261420-68261421	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs575071947	chr5:68261421-68261422	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs540592436	chr5:68261424-68261425	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs111217111	chr5:68261427-68261428	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs557639806	chr5:68261429-68261430	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs564952765	chr5:68261445-68261446	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs140636447	chr5:68261447-68261448	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs143783701	chr5:68261448-68261449	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs374487921	chr5:68261451-68261452	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs111206715	chr5:68261454-68261455	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs551264705	chr5:68261457-68261458	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs62652530	chr5:68261465-68261466	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs62652531	chr5:68261473-68261474	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs200030405	chr5:68261479-68261480	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs375831906	chr5:68261499-68261500	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs142807368	chr5:68261509-68261510	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs62652532	chr5:68261511-68261512	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs376936593	chr5:68261512-68261513	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs561987536	chr5:68261523-68261524	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs550559629	chr5:68261525-68261526	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs548785868	chr5:68261542-68261543	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs532953196	chr5:68261552-68261553	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs199771682	chr5:68261579-68261580	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs548999060	chr5:68261620-68261621	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs147275538	chr5:68261634-68261635	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs199572491	chr5:68261642-68261643	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs369332460	chr5:68261645-68261646	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs565051088	chr5:68261646-68261647	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs375772568	chr5:68261672-68261673	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs571146979	chr5:68261676-68261677	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs528198237	chr5:68261700-68261701	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs546587272	chr5:68261709-68261710	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs72135948	chr5:68261727-68261728	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs147022397	chr5:68261736-68261737	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs373528711	chr5:68261745-68261746	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs541873590	chr5:68261758-68261759	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs571274439	chr5:68261773-68261774	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs140260827	chr5:68261783-68261784	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs375004090	chr5:68261790-68261791	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs199777632	chr5:68261792-68261793	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs539294497	chr5:68261802-68261803	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:102)

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
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	20729466	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
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	21720365	CNVD
Lung adenocarcinoma	17086460	CNVD
Breast cancer	21045282	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Lung cancer	17086460	CNVD
Prostate cancer	16461572	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

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68246200-68262200	Weak transcription	Esophagus	oesophagus
2	chr5:68258000-68261800	Weak transcription	Spleen	Spleen
3	chr5:68258800-68262000	Weak transcription	Brain Substantia Nigra	brain
4	chr5:68258800-68262000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr5:68259200-68262200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:68260400-68261400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
7	chr5:68260400-68261600	ZNF genes & repeats	Fetal Kidney	kidney
8	chr5:68260600-68261400	ZNF genes & repeats	Fetal Brain Male	brain
9	chr5:68261400-68262400	Weak transcription	Fetal Brain Male	brain
10	chr5:68261800-68262000	Enhancers	Spleen	Spleen

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links