Variant report

Variant	esv3430774
Chromosome Location	chr5:112888153-112892251
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112885339..112887167-chr5:112888570..112890991,2	K562	blood:
2	chr5:112883582..112886447-chr5:112891151..112893823,3	MCF-7	breast:
3	chr5:112881042..112882693-chr5:112886312..112889101,2	MCF-7	breast:

Extended variants
information (count: 196 )
Associated
traits (count: 83 )

Variant overlapped rSNPs/rCNVs (count:196 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369514183	chr5:112888201-112888202	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs139330578	chr5:112888284-112888285	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs527524545	chr5:112888326-112888327	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs150003249	chr5:112888327-112888328	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs574887550	chr5:112888336-112888337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs373973939	chr5:112888357-112888358	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs182454338	chr5:112888360-112888361	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs563842568	chr5:112888369-112888370	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs573080135	chr5:112888371-112888372	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs145369727	chr5:112888394-112888395	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs187904250	chr5:112888399-112888400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs142550486	chr5:112888422-112888423	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs528213246	chr5:112888478-112888479	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs546298487	chr5:112888526-112888527	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs537749155	chr5:112888565-112888566	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs147958331	chr5:112888568-112888569	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs141816062	chr5:112888574-112888575	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs550519588	chr5:112888613-112888614	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs11956399	chr5:112888676-112888677	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs539714629	chr5:112888696-112888697	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs575385896	chr5:112888721-112888722	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs551325141	chr5:112888723-112888724	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs566678734	chr5:112888776-112888777	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs536698932	chr5:112888778-112888779	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs533924645	chr5:112888781-112888782	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs557996726	chr5:112888802-112888803	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs78284628	chr5:112888818-112888819	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs147981285	chr5:112888832-112888833	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs142478767	chr5:112888852-112888853	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs375039123	chr5:112888854-112888855	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368611640	chr5:112888855-112888856	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs535514149	chr5:112888874-112888875	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs374503453	chr5:112888875-112888876	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs72805422	chr5:112888882-112888883	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs192537653	chr5:112888923-112888924	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201486206	chr5:112888949-112888950	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs141246836	chr5:112888971-112888972	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs142582642	chr5:112888991-112888992	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs13168659	chr5:112889019-112889020	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs150952221	chr5:112889052-112889053	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs60871281	chr5:112889065-112889066	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs372431163	chr5:112889095-112889096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367888408	chr5:112889105-112889106	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs11950577	chr5:112889112-112889113	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs528943984	chr5:112889142-112889143	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs112337844	chr5:112889177-112889178	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs200734913	chr5:112889241-112889242	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs377081295	chr5:112889251-112889252	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs369423668	chr5:112889272-112889273	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs374172326	chr5:112889273-112889274	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:83)

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
abnormal development	18461090	CNVD
Colorectal cancer	16774939	CNVD
Colorectal cancer	16272173	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	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
Myelofibrosis	22110671	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Colorectal cancer	21297112	CNVD
Glioblastoma multiforme	22286061	CNVD
Prostate cancer	16461572	CNVD
Sezary syndrome	18413736	CNVD
Prostate cancer	22341455	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:237 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112850400-112904000	Weak transcription	Psoas Muscle	Psoas
2	chr5:112850600-112908400	Weak transcription	Colonic Mucosa	Colon
3	chr5:112851600-112893200	Weak transcription	Fetal Brain Male	brain
4	chr5:112851600-112902800	Weak transcription	Skeletal Muscle Male	skeletal muscle
5	chr5:112862800-112891200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr5:112867000-112888200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr5:112867000-112910000	Weak transcription	Right Ventricle	heart
8	chr5:112867200-112903400	Weak transcription	Pancreas	Pancrea
9	chr5:112867200-112904000	Weak transcription	Lung	lung
10	chr5:112867200-112904200	Weak transcription	Aorta	Aorta
11	chr5:112867200-112909800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr5:112867200-112909800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr5:112867200-112910000	Weak transcription	Esophagus	oesophagus
14	chr5:112867400-112888800	Weak transcription	Ovary	ovary
15	chr5:112867400-112926000	Weak transcription	Small Intestine	intestine
16	chr5:112867400-112933000	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr5:112867600-112891200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:112868000-112893400	Strong transcription	Dnd41	blood
19	chr5:112868400-112893600	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr5:112868600-112911400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr5:112869200-112910000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:112870200-112930800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr5:112872000-112904000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr5:112872000-112915000	Weak transcription	Hela-S3	cervix
25	chr5:112873000-112894000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr5:112873000-112900600	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr5:112873400-112908800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr5:112873800-112888400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr5:112874000-112909600	Weak transcription	Spleen	Spleen
30	chr5:112874400-112902600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr5:112876000-112918800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr5:112877200-112905800	Weak transcription	Fetal Stomach	stomach
33	chr5:112877400-112892000	Weak transcription	Brain Germinal Matrix	brain
34	chr5:112878000-112888400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr5:112878200-112894000	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr5:112879200-112890800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:112879600-112888400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr5:112879600-112889000	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr5:112879600-112895200	Weak transcription	Left Ventricle	heart
40	chr5:112879600-112902800	Weak transcription	Thymus	Thymus
41	chr5:112879600-112904200	Weak transcription	Gastric	stomach
42	chr5:112879800-112888400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr5:112881800-112906400	Weak transcription	Fetal Intestine Small	intestine
44	chr5:112882000-112893400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr5:112882600-112904000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr5:112882800-112888400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr5:112882800-112909600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr5:112883000-112888400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr5:112883000-112890000	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr5:112883000-112899600	Weak transcription	Brain Angular Gyrus	brain

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