Variant report

Variant	esv3470654
Chromosome Location	chr5:114706116-114721234
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:114711869..114714907-chr5:114878578..114880723,3	MCF-7	breast:
2	chr5:114645624..114646196-chr5:114709538..114710375,2	MCF-7	breast:
3	chr5:114717884..114719836-chr5:114879578..114881305,2	MCF-7	breast:
4	chr5:114708411..114710984-chr5:114878847..114880354,2	MCF-7	breast:
5	chr5:114713804..114715548-chr5:114724717..114726881,2	MCF-7	breast:
6	chr5:114709493..114710351-chr5:114909755..114910754,3	MCF-7	breast:
7	chr5:114713336..114714974-chr5:114920219..114921988,2	MCF-7	breast:
8	chr5:114700131..114702425-chr5:114706517..114709440,2	MCF-7	breast:
9	chr5:114712822..114713353-chr5:114921928..114922705,2	MCF-7	breast:
10	chr5:114712072..114714398-chr5:114878860..114881275,2	MCF-7	breast:
11	chr5:114701068..114703742-chr5:114706747..114709542,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145780	chromatin interactions

Extended variants
information (count: 681 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:681 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs539378793	chr5:114706131-114706132	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs143929326	chr5:114706135-114706136	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs572918496	chr5:114706167-114706168	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs115714725	chr5:114706174-114706175	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs550760195	chr5:114706175-114706176	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs555833741	chr5:114706220-114706221	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs184007347	chr5:114706243-114706244	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs544676980	chr5:114706247-114706248	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs139877733	chr5:114706268-114706269	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs188972543	chr5:114706335-114706336	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs540942909	chr5:114706378-114706379	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs193259007	chr5:114706383-114706384	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs528095239	chr5:114706395-114706396	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs547920911	chr5:114706407-114706408	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs183647950	chr5:114706439-114706440	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7701924	chr5:114706443-114706444	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs77728162	chr5:114706491-114706492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs2963749	chr5:114706492-114706493	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs188353766	chr5:114706494-114706495	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs191685824	chr5:114706501-114706502	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs566384015	chr5:114706506-114706507	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs78787591	chr5:114706535-114706536	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs146178537	chr5:114706540-114706541	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569212997	chr5:114706547-114706548	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs537975172	chr5:114706551-114706552	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs558854649	chr5:114706591-114706592	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs139138682	chr5:114706604-114706605	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs184278869	chr5:114706628-114706629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs190180131	chr5:114706636-114706637	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566796000	chr5:114706639-114706640	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs554401625	chr5:114706641-114706642	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs181901163	chr5:114706655-114706656	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs543293527	chr5:114706656-114706657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs186980541	chr5:114706671-114706672	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs190221694	chr5:114706684-114706685	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543988793	chr5:114706703-114706704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs142690834	chr5:114706712-114706713	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs151011690	chr5:114706715-114706716	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs546437264	chr5:114706716-114706717	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs566321326	chr5:114706743-114706744	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs76938821	chr5:114706752-114706753	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs371689472	chr5:114706753-114706754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114271532	chr5:114706788-114706789	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs569173148	chr5:114706795-114706796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs181915141	chr5:114706801-114706802	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs370094092	chr5:114706925-114706926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs530927617	chr5:114706948-114706949	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs558284777	chr5:114706974-114706975	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs184962570	chr5:114706975-114706976	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs534275615	chr5:114707006-114707007	Weak transcription Enhancers	n/a	n/a	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:331 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114699800-114706600	Weak transcription	Gastric	stomach
2	chr5:114700200-114715800	Weak transcription	Pancreas	Pancrea
3	chr5:114702000-114707600	Weak transcription	Psoas Muscle	Psoas
4	chr5:114702000-114717800	Weak transcription	Right Atrium	heart
5	chr5:114702200-114711400	Weak transcription	Left Ventricle	heart
6	chr5:114702400-114707600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr5:114702400-114707600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr5:114702600-114707600	Weak transcription	Hela-S3	cervix
9	chr5:114702600-114707600	Weak transcription	NHEK	skin
10	chr5:114702600-114707600	Weak transcription	Osteobl	bone
11	chr5:114702600-114707800	Weak transcription	HMEC	breast
12	chr5:114702600-114712000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr5:114702600-114712800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr5:114702600-114713000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr5:114702800-114707000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr5:114702800-114707800	Weak transcription	HSMMtube	muscle
17	chr5:114703000-114707600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr5:114703000-114707600	Weak transcription	NHDF-Ad	bronchial
19	chr5:114703000-114707800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr5:114704200-114706600	Enhancers	H1 Cell Line	embryonic stem cell
21	chr5:114704400-114706400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr5:114704600-114706600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr5:114704600-114706800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr5:114704800-114706200	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr5:114704800-114706400	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr5:114704800-114706400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr5:114704800-114706800	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr5:114705400-114706200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:114705400-114707600	Weak transcription	Fetal Muscle Leg	muscle
30	chr5:114705600-114709600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:114705800-114708000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr5:114706200-114706600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr5:114706200-114706600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr5:114706400-114707600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr5:114706400-114707600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr5:114706400-114713200	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr5:114706600-114706800	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr5:114706600-114707800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr5:114706600-114708000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr5:114706600-114708600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr5:114706800-114707800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr5:114706800-114708000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr5:114706800-114708600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr5:114707000-114708600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:114707400-114708400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr5:114707600-114708200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr5:114707600-114708200	Enhancers	Fetal Muscle Leg	muscle
48	chr5:114707600-114708200	Enhancers	Psoas Muscle	Psoas
49	chr5:114707600-114708200	Enhancers	NHDF-Ad	bronchial
50	chr5:114707600-114708200	Enhancers	NHEK	skin

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