Variant report

Variant	esv3373554
Chromosome Location	chr5:68260891-68261238
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	chr5:68260303-68262196	GM12878	blood:	n/a	n/a
2	BCL3	chr5:68260450-68262189	GM12878	blood:	n/a	n/a
3	CTCF	chr5:68261080-68261230	HCFaa	heart:	n/a	n/a
4	NFATC1	chr5:68260454-68261635	GM12878	blood:	n/a	n/a
5	NFATC1	chr5:68260253-68261422	GM12878	blood:	n/a	n/a
6	NR2C2	chr5:68260475-68261442	GM12878	blood:	n/a	n/a
7	PBX3	chr5:68260971-68261252	GM12878	blood:	n/a	n/a
8	PBX3	chr5:68260495-68260905	GM12878	blood:	n/a	n/a
9	SUZ12	chr5:68260542-68261541	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000249335	TF binding region

Extended variants
information (count: 37 )
Associated
traits (count: 102 )

Variant overlapped rSNPs/rCNVs (count:37 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556983694	chr5:68260897-68260898	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs528534789	chr5:68260899-68260900	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs547365992	chr5:68260911-68260912	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs559257289	chr5:68260914-68260915	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs375466134	chr5:68260917-68260918	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs555659982	chr5:68260920-68260921	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs188482110	chr5:68260933-68260934	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs149304031	chr5:68260940-68260941	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs111066624	chr5:68260951-68260952	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs374133691	chr5:68260965-68260966	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs561579132	chr5:68260997-68260998	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs148845837	chr5:68261010-68261011	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs372654819	chr5:68261013-68261014	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs532534725	chr5:68261016-68261017	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs569522769	chr5:68261020-68261021	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs565784911	chr5:68261034-68261035	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs372263484	chr5:68261038-68261039	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs111066625	chr5:68261073-68261074	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs201568540	chr5:68261091-68261092	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs548041783	chr5:68261092-68261093	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs377106398	chr5:68261100-68261101	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs145889686	chr5:68261102-68261103	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs201865967	chr5:68261104-68261105	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs369379466	chr5:68261108-68261109	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs199855329	chr5:68261114-68261115	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs199573529	chr5:68261122-68261123	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs369827365	chr5:68261126-68261127	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs200638001	chr5:68261138-68261139	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs370273794	chr5:68261140-68261141	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs202210594	chr5:68261162-68261163	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs147992966	chr5:68261180-68261181	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs567140356	chr5:68261200-68261201	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs142738091	chr5:68261219-68261220	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs563773743	chr5:68261220-68261221	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs577267098	chr5:68261221-68261222	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs534645388	chr5:68261226-68261227	ZNF genes & repeats Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs553371575	chr5:68261235-68261236	ZNF genes & repeats Weak transcription	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:8 , 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

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