Variant report

Variant	esv3512817
Chromosome Location	chr5:115454103-115457901
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:115431884..115434416-chr5:115451435..115454225,2	K562	blood:
2	chr5:115419680..115422174-chr5:115452572..115455057,2	MCF-7	breast:
3	chr5:115445954..115448911-chr5:115452951..115455275,2	K562	blood:

Variant related genes	Relation type
ENSG00000145781	chromatin interactions
ENSG00000271918	chromatin interactions

Extended variants
information (count: 233 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:233 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs529580008	chr5:115454105-115454106	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs549605731	chr5:115454112-115454113	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs34850291	chr5:115454160-115454161	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs200645460	chr5:115454161-115454162	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs398065125	chr5:115454162-115454163	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs190278563	chr5:115454187-115454188	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs201404838	chr5:115454208-115454209	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs111416015	chr5:115454213-115454214	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs33984334	chr5:115454214-115454215	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs10079037	chr5:115454221-115454222	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
11	rs556330445	chr5:115454267-115454268	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs551999050	chr5:115454324-115454325	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs570587165	chr5:115454342-115454343	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs181488594	chr5:115454358-115454359	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs558983559	chr5:115454394-115454395	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs10079176	chr5:115454408-115454409	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs4921066	chr5:115454425-115454426	Weak transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs370065407	chr5:115454451-115454452	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs535398422	chr5:115454452-115454453	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs555674990	chr5:115454453-115454454	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs575180307	chr5:115454490-115454491	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs544031115	chr5:115454519-115454520	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs563924471	chr5:115454550-115454551	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs187574371	chr5:115454561-115454562	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs540693180	chr5:115454570-115454571	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs1396478	chr5:115454608-115454609	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs529247149	chr5:115454610-115454611	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs73271260	chr5:115454627-115454628	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs559145978	chr5:115454628-115454629	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs78562801	chr5:115454629-115454630	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs532019386	chr5:115454634-115454635	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs531593432	chr5:115454654-115454655	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs190254835	chr5:115454660-115454661	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs181833897	chr5:115454662-115454663	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs142758600	chr5:115454714-115454715	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs144254252	chr5:115454757-115454758	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs150252229	chr5:115454816-115454817	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs1396479	chr5:115454833-115454834	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs1396480	chr5:115454839-115454840	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs115092949	chr5:115454846-115454847	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs537714119	chr5:115454855-115454856	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs370501268	chr5:115454872-115454873	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs557551168	chr5:115454880-115454881	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs79673450	chr5:115454893-115454894	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs377425438	chr5:115454902-115454903	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs148719169	chr5:115454911-115454912	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs554282477	chr5:115454913-115454914	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs185177118	chr5:115454945-115454946	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs543034304	chr5:115454952-115454953	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs142431364	chr5:115454955-115454956	Weak transcription ZNF genes & repeats Strong transcription	Chromatin interactive region	2 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
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
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	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
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
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115433600-115457200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr5:115444400-115456800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr5:115448400-115456600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr5:115449000-115466000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr5:115449200-115457600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:115449400-115465600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr5:115450000-115454800	Weak transcription	Dnd41	blood
8	chr5:115450000-115455800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr5:115450000-115455800	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr5:115450000-115473400	Weak transcription	Fetal Lung	lung
11	chr5:115450200-115455200	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr5:115450200-115469600	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr5:115450400-115454600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr5:115450400-115455600	Weak transcription	Fetal Stomach	stomach
15	chr5:115450600-115454600	Weak transcription	Primary T cells from cord blood	blood
16	chr5:115450600-115455200	Weak transcription	Fetal Intestine Large	intestine
17	chr5:115450600-115457800	Weak transcription	Aorta	Aorta
18	chr5:115450600-115458800	Weak transcription	Primary B cells from peripheral blood	blood
19	chr5:115450800-115455400	Weak transcription	Primary monocytes fromperipheralblood	blood
20	chr5:115451000-115455600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr5:115451000-115473200	Weak transcription	Ovary	ovary
22	chr5:115451000-115481200	Weak transcription	Left Ventricle	heart
23	chr5:115451200-115454800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr5:115451200-115457000	Weak transcription	Gastric	stomach
25	chr5:115451200-115470800	Weak transcription	Primary B cells from cord blood	blood
26	chr5:115453400-115455200	Weak transcription	Fetal Intestine Small	intestine
27	chr5:115453600-115458600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr5:115454600-115455600	ZNF genes & repeats	Primary T cells from cord blood	blood
29	chr5:115454600-115456200	Strong transcription	Primary hematopoietic stem cells	blood
30	chr5:115454800-115455400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr5:115455200-115455600	ZNF genes & repeats	Fetal Intestine Small	intestine
32	chr5:115455200-115456200	ZNF genes & repeats	Fetal Intestine Large	intestine
33	chr5:115455200-115456600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
34	chr5:115455400-115455600	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr5:115455600-115471400	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr5:115456200-115457000	Weak transcription	Primary hematopoietic stem cells	blood

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