Variant report

Variant	esv3512822
Chromosome Location	chr5:115455151-115456969
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:115445954..115448911-chr5:115452951..115455275,2	K562	blood:

Extended variants
information (count: 121 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:121 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs528232625	chr5:115455184-115455185	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs547670590	chr5:115455223-115455224	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs151332270	chr5:115455225-115455226	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs73271262	chr5:115455241-115455242	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs77221613	chr5:115455243-115455244	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs568484306	chr5:115455259-115455260	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs537751251	chr5:115455264-115455265	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs557589915	chr5:115455279-115455280	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs571198459	chr5:115455300-115455301	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs534037426	chr5:115455304-115455305	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs548925986	chr5:115455350-115455351	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs553660998	chr5:115455383-115455384	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs370341961	chr5:115455418-115455419	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs574111018	chr5:115455433-115455434	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs567661445	chr5:115455440-115455441	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs542718437	chr5:115455451-115455452	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs556601617	chr5:115455456-115455457	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs376870032	chr5:115455458-115455459	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs565023178	chr5:115455476-115455477	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs576467504	chr5:115455489-115455490	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs4532392	chr5:115455505-115455506	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs565630247	chr5:115455506-115455507	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs374090927	chr5:115455518-115455519	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs527957851	chr5:115455522-115455523	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs10463676	chr5:115455536-115455537	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
26	rs561291980	chr5:115455539-115455540	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs571494351	chr5:115455549-115455550	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs538825842	chr5:115455554-115455555	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs182665027	chr5:115455601-115455602	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs186179629	chr5:115455627-115455628	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs6877029	chr5:115455664-115455665	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
32	rs191882863	chr5:115455693-115455694	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs6896229	chr5:115455707-115455708	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs140051006	chr5:115455717-115455718	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs183318032	chr5:115455762-115455763	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs571543642	chr5:115455766-115455767	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs6896119	chr5:115455768-115455769	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs79746854	chr5:115455835-115455836	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs113323563	chr5:115455849-115455850	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs527866737	chr5:115455888-115455889	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs189111838	chr5:115455899-115455900	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs556738419	chr5:115455903-115455904	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs34471954	chr5:115455911-115455912	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs6896571	chr5:115455912-115455913	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs192620084	chr5:115455969-115455970	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs147583685	chr5:115455970-115455971	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs541336039	chr5:115455972-115455973	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs183361933	chr5:115455975-115455976	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs574894248	chr5:115455981-115455982	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs73271268	chr5:115455989-115455990	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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:32 , 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	chr5:115450000-115455800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr5:115450000-115455800	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr5:115450000-115473400	Weak transcription	Fetal Lung	lung
10	chr5:115450200-115455200	Weak transcription	Cortex derived primary cultured neurospheres	brain
11	chr5:115450200-115469600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr5:115450400-115455600	Weak transcription	Fetal Stomach	stomach
13	chr5:115450600-115455200	Weak transcription	Fetal Intestine Large	intestine
14	chr5:115450600-115457800	Weak transcription	Aorta	Aorta
15	chr5:115450600-115458800	Weak transcription	Primary B cells from peripheral blood	blood
16	chr5:115450800-115455400	Weak transcription	Primary monocytes fromperipheralblood	blood
17	chr5:115451000-115455600	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr5:115451000-115473200	Weak transcription	Ovary	ovary
19	chr5:115451000-115481200	Weak transcription	Left Ventricle	heart
20	chr5:115451200-115457000	Weak transcription	Gastric	stomach
21	chr5:115451200-115470800	Weak transcription	Primary B cells from cord blood	blood
22	chr5:115453400-115455200	Weak transcription	Fetal Intestine Small	intestine
23	chr5:115453600-115458600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr5:115454600-115455600	ZNF genes & repeats	Primary T cells from cord blood	blood
25	chr5:115454600-115456200	Strong transcription	Primary hematopoietic stem cells	blood
26	chr5:115454800-115455400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr5:115455200-115455600	ZNF genes & repeats	Fetal Intestine Small	intestine
28	chr5:115455200-115456200	ZNF genes & repeats	Fetal Intestine Large	intestine
29	chr5:115455200-115456600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
30	chr5:115455400-115455600	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr5:115455600-115471400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr5:115456200-115457000	Weak transcription	Primary hematopoietic stem cells	blood

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