Variant report

Variant	esv3444726
Chromosome Location	chr5:68928996-68932094
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCL11A	chr5:68929807-68929986	GM12878	blood:	n/a	n/a
2	CTCF	chr5:68929341-68929391	Kidney_OC	kidney:	n/a	n/a
3	FOSL2	chr5:68929549-68929799	HepG2	liver:	n/a	n/a
4	FOXP2	chr5:68930535-68930850	PFSK-1	brain:	n/a	n/a
5	FOXP2	chr5:68929029-68929480	PFSK-1	brain:	n/a	n/a
6	FOXP2	chr5:68929790-68930211	PFSK-1	brain:	n/a	n/a
7	GABPA	chr5:68930033-68930246	Hela-S3	cervix:	n/a	n/a
8	GABPA	chr5:68929617-68929721	Hela-S3	cervix:	n/a	n/a
9	GABPA	chr5:68929546-68929739	Hela-S3	cervix:	n/a	n/a
10	GABPA	chr5:68930007-68930160	Hela-S3	cervix:	n/a	n/a
11	GABPA	chr5:68930359-68930595	Hela-S3	cervix:	n/a	n/a
12	JUND	chr5:68930384-68930620	HepG2	liver:	n/a	n/a
13	PAX5	chr5:68930365-68930625	GM12878	blood:	n/a	n/a
14	PAX5	chr5:68930331-68930663	GM12878	blood:	n/a	n/a
15	PAX5	chr5:68931176-68931370	GM12878	blood:	n/a	n/a
16	PAX5	chr5:68930014-68930176	GM12878	blood:	n/a	n/a
17	PAX5	chr5:68929552-68929761	GM12878	blood:	n/a	n/a
18	PBX3	chr5:68929846-68929968	GM12878	blood:	n/a	n/a
19	PBX3	chr5:68929623-68929726	GM12878	blood:	n/a	n/a
20	POLR2A	chr5:68931184-68931438	GM12878	blood:	n/a	n/a
21	POLR2A	chr5:68930369-68930618	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr5:68931158-68931952	GM12878	blood:	n/a	n/a
23	POLR2A	chr5:68928572-68930676	GM12892	blood:	n/a	n/a
24	POLR2A	chr5:68931168-68931379	GM12878	blood:	n/a	n/a
25	POLR2A	chr5:68930383-68930609	GM12878	blood:	n/a	n/a
26	POLR2A	chr5:68929180-68929364	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr5:68931081-68931809	GM12892	blood:	n/a	n/a
28	POLR2A	chr5:68928580-68930732	GM12878	blood:	n/a	n/a
29	POLR2A	chr5:68930356-68930589	GM12878	blood:	n/a	n/a
30	POLR2A	chr5:68930068-68930751	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr5:68929543-68929786	GM12878	blood:	n/a	n/a
32	POLR2A	chr5:68930379-68930618	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr5:68929979-68930181	GM12878	blood:	n/a	n/a
34	POLR2A	chr5:68931380-68931798	GM12878	blood:	n/a	n/a
35	POLR2A	chr5:68928560-68930691	GM12892	blood:	n/a	n/a
36	POLR2A	chr5:68929566-68929783	H1-hESC	embryonic stem cell:	n/a	n/a
37	POLR2A	chr5:68928867-68929722	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr5:68929989-68930177	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr5:68928623-68929482	GM12878	blood:	n/a	n/a
40	POLR2A	chr5:68929546-68929800	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr5:68929228-68929431	GM12878	blood:	n/a	n/a
42	POU2F2	chr5:68930384-68930500	GM12878	blood:	n/a	n/a
43	POU2F2	chr5:68929160-68929457	GM12878	blood:	n/a	n/a
44	POU2F2	chr5:68931392-68931857	GM12878	blood:	n/a	n/a
45	POU2F2	chr5:68931228-68931360	GM12878	blood:	n/a	n/a
46	POU2F2	chr5:68930336-68930653	GM12878	blood:	n/a	n/a
47	POU2F2	chr5:68929615-68929729	GM12878	blood:	n/a	n/a
48	POU2F2	chr5:68929523-68930102	GM12878	blood:	n/a	n/a
49	REST	chr5:68931160-68931784	SK-N-SH	brain:	n/a	n/a
50	SPI1	chr5:68929545-68929737	GM12878	blood:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000250138	TF binding region

Extended variants
information (count: 47 )
Associated
traits (count: 114 )

Variant overlapped rSNPs/rCNVs (count:47 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200447535	chr5:68929006-68929007	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs201113383	chr5:68929009-68929010	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs200967433	chr5:68929011-68929012	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs200704023	chr5:68929013-68929014	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs377581375	chr5:68929078-68929079	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs201180084	chr5:68929117-68929118	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs199643856	chr5:68929118-68929119	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs531627218	chr5:68929152-68929153	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs550061259	chr5:68929157-68929158	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs370554522	chr5:68929168-68929169	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs111743460	chr5:68929183-68929184	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs368257592	chr5:68929196-68929197	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs200653071	chr5:68929265-68929266	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs553849760	chr5:68929270-68929271	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs565626034	chr5:68929306-68929307	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs111447363	chr5:68929320-68929321	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs201812412	chr5:68929326-68929327	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs539450661	chr5:68929328-68929329	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs374743415	chr5:68929329-68929330	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs557319879	chr5:68929347-68929348	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs200146773	chr5:68929352-68929353	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs200719742	chr5:68929360-68929361	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs537350175	chr5:68929378-68929379	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs201734951	chr5:68929392-68929393	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs199882730	chr5:68929399-68929400	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs541248258	chr5:68929413-68929414	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs112630804	chr5:68929424-68929425	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs202103042	chr5:68929485-68929486	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs200049018	chr5:68929505-68929506	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs201029296	chr5:68929552-68929553	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs375068468	chr5:68929568-68929569	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs202132524	chr5:68929600-68929601	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs200518621	chr5:68929614-68929615	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs201195210	chr5:68929619-68929620	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs201783816	chr5:68929627-68929628	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs545460206	chr5:68929644-68929645	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs563682488	chr5:68929647-68929648	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs530881863	chr5:68929671-68929672	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs550122167	chr5:68929695-68929696	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
40	rs561801727	chr5:68929706-68929707	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs200240129	chr5:68929707-68929708	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs201285948	chr5:68929714-68929715	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs529122602	chr5:68929718-68929719	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs547256463	chr5:68929722-68929723	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
45	rs565817071	chr5:68929743-68929744	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs539154347	chr5:68929745-68929746	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs551012944	chr5:68929759-68929760	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:114)

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
Breast cancer	22522925	CNVD
Autism	21865298	CNVD
Medullary thyroid carcinoma	18765511	CNVD
Obesity	21131291	CNVD
early-passage human iPS cells	21368824	CNVD
Breast cancer	21364760	CNVD
Disease	19212409	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:68926600-68929000	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr5:68926600-68929000	Weak transcription	Primary T cells from cord blood	blood
3	chr5:68926600-68929000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:68926600-68929000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr5:68926600-68929000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:68926600-68929000	Weak transcription	Brain Germinal Matrix	brain
7	chr5:68926600-68929000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr5:68926600-68929000	Weak transcription	Fetal Intestine Large	intestine
9	chr5:68926600-68929000	Weak transcription	Fetal Intestine Small	intestine
10	chr5:68926600-68929000	Weak transcription	Fetal Stomach	stomach
11	chr5:68926600-68929000	Weak transcription	Ovary	ovary
12	chr5:68928200-68929800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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