Variant report

Variant	esv34634
Chromosome Location	chr5:114709137-114723044
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	chr5:114700131..114702425-chr5:114706517..114709440,2	MCF-7	breast:
2	chr5:114713804..114715548-chr5:114724717..114726881,2	MCF-7	breast:
3	chr5:114712072..114714398-chr5:114878860..114881275,2	MCF-7	breast:
4	chr5:114645624..114646196-chr5:114709538..114710375,2	MCF-7	breast:
5	chr5:114717884..114719836-chr5:114879578..114881305,2	MCF-7	breast:
6	chr5:114711869..114714907-chr5:114878578..114880723,3	MCF-7	breast:
7	chr5:114709493..114710351-chr5:114909755..114910754,3	MCF-7	breast:
8	chr5:114708411..114710984-chr5:114878847..114880354,2	MCF-7	breast:
9	chr5:114701068..114703742-chr5:114706747..114709542,2	MCF-7	breast:
10	chr5:114713336..114714974-chr5:114920219..114921988,2	MCF-7	breast:
11	chr5:114712822..114713353-chr5:114921928..114922705,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000145780	chromatin interactions

Extended variants
information (count: 619 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:619 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2591258	chr5:114709137-114709138	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs561362982	chr5:114709142-114709143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs554634566	chr5:114709160-114709161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs115655023	chr5:114709176-114709177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs540365216	chr5:114709193-114709194	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs543906357	chr5:114709210-114709211	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs563395673	chr5:114709255-114709256	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs34523937	chr5:114709256-114709257	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs575502820	chr5:114709296-114709297	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs35357974	chr5:114709320-114709321	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs36116839	chr5:114709359-114709360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs545731035	chr5:114709394-114709395	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs552394305	chr5:114709397-114709398	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs146228025	chr5:114709403-114709404	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564399971	chr5:114709420-114709421	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs568140579	chr5:114709438-114709439	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs528807863	chr5:114709439-114709440	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs11740600	chr5:114709455-114709456	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs137880303	chr5:114709458-114709459	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540023011	chr5:114709459-114709460	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs535834681	chr5:114709493-114709494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs556228601	chr5:114709529-114709530	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs4705524	chr5:114709538-114709539	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs537791128	chr5:114709559-114709560	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs184140486	chr5:114709623-114709624	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs75013354	chr5:114709633-114709634	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs149467593	chr5:114709638-114709639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs144122322	chr5:114709666-114709667	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs554526841	chr5:114709733-114709734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574779746	chr5:114709741-114709742	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs553535615	chr5:114709846-114709847	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs563332029	chr5:114709863-114709864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs573422739	chr5:114709889-114709890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs374202833	chr5:114709918-114709919	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs2964553	chr5:114709926-114709927	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs545869104	chr5:114709939-114709940	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs2925169	chr5:114709964-114709965	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs528641129	chr5:114709968-114709969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs10078844	chr5:114709970-114709971	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs562200254	chr5:114709974-114709975	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs148683835	chr5:114709992-114709993	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs549845212	chr5:114710002-114710003	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs569654061	chr5:114710015-114710016	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs142229786	chr5:114710026-114710027	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs2963746	chr5:114710029-114710030	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs189384087	chr5:114710045-114710046	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs192930508	chr5:114710099-114710100	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs571116025	chr5:114710100-114710101	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs74697659	chr5:114710133-114710134	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs144337542	chr5:114710146-114710147	Weak transcription ZNF genes & repeats	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:267 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:114700200-114715800	Weak transcription	Pancreas	Pancrea
2	chr5:114702000-114717800	Weak transcription	Right Atrium	heart
3	chr5:114702200-114711400	Weak transcription	Left Ventricle	heart
4	chr5:114702600-114712000	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr5:114702600-114712800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:114702600-114713000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr5:114705600-114709600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:114706400-114713200	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr5:114708000-114712800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr5:114708200-114711400	Weak transcription	Fetal Muscle Leg	muscle
11	chr5:114708200-114711800	Weak transcription	NHDF-Ad	bronchial
12	chr5:114708200-114712800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:114708200-114712800	Weak transcription	NHEK	skin
14	chr5:114708200-114712800	Weak transcription	Osteobl	bone
15	chr5:114708200-114713000	Weak transcription	HMEC	breast
16	chr5:114708200-114713200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr5:114708200-114713600	Weak transcription	Psoas Muscle	Psoas
18	chr5:114708200-114720600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr5:114708400-114710600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr5:114708400-114711600	Weak transcription	Adipose Nuclei	Adipose
21	chr5:114708400-114713000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:114708600-114710000	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr5:114708600-114710000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr5:114708600-114710600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr5:114708600-114710800	Weak transcription	Hela-S3	cervix
26	chr5:114708600-114711600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr5:114708600-114711600	Weak transcription	HSMM	muscle
28	chr5:114708600-114712800	Weak transcription	HSMMtube	muscle
29	chr5:114709000-114709200	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr5:114709600-114709800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr5:114710000-114710200	ZNF genes & repeats	Skeletal Muscle Female	skeletal muscle
32	chr5:114710200-114710600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr5:114710600-114710800	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr5:114710600-114713000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr5:114710600-114713200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr5:114710800-114711200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr5:114710800-114713200	Enhancers	Hela-S3	cervix
38	chr5:114711200-114711800	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr5:114711200-114712400	Enhancers	Fetal Intestine Small	intestine
40	chr5:114711400-114712000	Enhancers	Left Ventricle	heart
41	chr5:114711400-114713600	Enhancers	Fetal Heart	heart
42	chr5:114711400-114714600	Enhancers	Fetal Muscle Leg	muscle
43	chr5:114711600-114711800	Enhancers	Duodenum Mucosa	Duodenum
44	chr5:114711600-114711800	Enhancers	HepG2	liver
45	chr5:114711600-114711800	Enhancers	NHLF	lung
46	chr5:114711600-114712000	Enhancers	Small Intestine	intestine
47	chr5:114711600-114712800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr5:114711600-114713200	Enhancers	HSMM	muscle
49	chr5:114711600-114713800	Enhancers	Adipose Nuclei	Adipose
50	chr5:114711800-114712000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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