Variant report

Variant	esv2481947
Chromosome Location	chr5:114730681-114732326
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	GATA2	chr5:114731748-114732114	SH-SY5Y	brain:	n/a	n/a
2	GATA3	chr5:114731684-114733016	SK-N-SH	brain:	n/a	n/a
3	GATA3	chr5:114731863-114732130	SH-SY5Y	brain:	n/a	n/a
4	GATA3	chr5:114731662-114732210	SK-N-SH	brain:	n/a	n/a
5	GATA3	chr5:114732259-114732979	SK-N-SH	brain:	n/a	n/a
6	SPI1	chr5:114730102-114730749	GM12878	blood:	n/a	n/a
7	TCF12	chr5:114732306-114733155	SK-N-SH	brain:	n/a	n/a

Variant related genes	Relation type
ENSG00000249026	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:69 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs192269445	chr5:114730701-114730702	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs184699632	chr5:114730710-114730711	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs377115293	chr5:114730733-114730734	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs559590991	chr5:114730734-114730735	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
5	rs369145460	chr5:114730776-114730777	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs528525641	chr5:114730789-114730790	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs201178834	chr5:114730806-114730807	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs548543376	chr5:114730822-114730823	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs189150032	chr5:114730837-114730838	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs530993195	chr5:114730871-114730872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs146528231	chr5:114730879-114730880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs562227671	chr5:114730892-114730893	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs12520500	chr5:114730895-114730896	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs2605184	chr5:114730900-114730901	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs200320952	chr5:114730925-114730926	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs140987866	chr5:114730979-114730980	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs567149561	chr5:114730996-114730997	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11241324	chr5:114731010-114731011	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs181904458	chr5:114731012-114731013	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs574207650	chr5:114731016-114731017	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs536717172	chr5:114731023-114731024	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs371170443	chr5:114731024-114731025	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs144747240	chr5:114731032-114731033	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs183510275	chr5:114731046-114731047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs576669265	chr5:114731056-114731057	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs545592509	chr5:114731093-114731094	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs534053563	chr5:114731109-114731110	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs559419205	chr5:114731111-114731112	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs189282360	chr5:114731120-114731121	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs10072589	chr5:114731144-114731145	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs78062250	chr5:114731197-114731198	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs2605185	chr5:114731199-114731200	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs181234066	chr5:114731208-114731209	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs115062686	chr5:114731277-114731278	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs564561843	chr5:114731288-114731289	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs533612220	chr5:114731289-114731290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs113197978	chr5:114731323-114731324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs112847611	chr5:114731325-114731326	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs58977491	chr5:114731350-114731351	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10072619	chr5:114731385-114731386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs547149949	chr5:114731478-114731479	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs567085675	chr5:114731625-114731626	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs536109423	chr5:114731626-114731627	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs547896175	chr5:114731627-114731628	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs567670274	chr5:114731628-114731629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs536757273	chr5:114731629-114731630	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs58474151	chr5:114731641-114731642	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs576510621	chr5:114731680-114731681	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs186509066	chr5:114731695-114731696	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs374122244	chr5:114731726-114731727	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
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
Thoracic aortic aneurysm	21092924	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	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
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
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Squamous cell cancer	20885788	CNVD
Hepatocellular carcinoma	16750200	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Multiple myeloma	17550852	CNVD
Ovarian cancer	21720365	CNVD
Neurocytoma	17123091	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Prostate cancer	16461572	CNVD
Myelofibrosis	22110671	CNVD
Sezary syndrome	18413736	CNVD

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114725800-114730800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr5:114728400-114731200	Enhancers	Stomach Mucosa	stomach
3	chr5:114729000-114731800	Weak transcription	Osteobl	bone
4	chr5:114729200-114732000	Enhancers	Rectal Mucosa Donor 31	rectum
5	chr5:114729400-114731800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr5:114729400-114734200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:114729600-114731000	Enhancers	Colonic Mucosa	Colon
8	chr5:114729600-114737000	Weak transcription	NHLF	lung
9	chr5:114729800-114730800	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr5:114730000-114731000	Weak transcription	Gastric	stomach
11	chr5:114730000-114731000	Weak transcription	Lung	lung
12	chr5:114730000-114731000	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr5:114730000-114732000	Weak transcription	NHDF-Ad	bronchial
14	chr5:114730000-114737800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr5:114730400-114731000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:114730600-114731200	Enhancers	Duodenum Mucosa	Duodenum
17	chr5:114730800-114731200	Enhancers	Fetal Intestine Large	intestine
18	chr5:114730800-114731200	Enhancers	Rectal Mucosa Donor 29	rectum
19	chr5:114730800-114731200	Enhancers	Small Intestine	intestine
20	chr5:114731000-114731200	Enhancers	Lung	lung
21	chr5:114731000-114731200	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr5:114731000-114731200	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr5:114731000-114731800	Enhancers	Gastric	stomach
24	chr5:114731200-114731800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr5:114731200-114738000	Weak transcription	Lung	lung
26	chr5:114731800-114732000	Enhancers	Duodenum Mucosa	Duodenum
27	chr5:114731800-114733000	Enhancers	Osteobl	bone
28	chr5:114731800-114733400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr5:114732000-114735200	Enhancers	NHDF-Ad	bronchial
30	chr5:114732200-114733000	Enhancers	NH-A	brain

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