Variant report

Variant	esv33800
Chromosome Location	chr5:115501744-115501897
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs536277712	chr5:115501745-115501746	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs555863471	chr5:115501778-115501779	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs576330852	chr5:115501785-115501786	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs558181308	chr5:115501787-115501788	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs1567335	chr5:115501792-115501793	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
6	rs181953779	chr5:115501806-115501807	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs139351843	chr5:115501813-115501814	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs375216757	chr5:115501819-115501820	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs528224839	chr5:115501824-115501825	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs150047142	chr5:115501826-115501827	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs530123531	chr5:115501837-115501838	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs144941003	chr5:115501838-115501839	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs142018003	chr5:115501839-115501840	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs5870690	chr5:115501859-115501860	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs376216510	chr5:115501862-115501863	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs3072987	chr5:115501864-115501865	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs377153451	chr5:115501865-115501866	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs200774147	chr5:115501866-115501867	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs116784544	chr5:115501889-115501890	Weak transcription Strong 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
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:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115462600-115502000	Weak transcription	Fetal Intestine Large	intestine
2	chr5:115471600-115521600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr5:115481400-115536000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr5:115484400-115510000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr5:115484400-115521400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr5:115489200-115526800	Weak transcription	Pancreas	Pancrea
7	chr5:115489800-115528600	Weak transcription	Ovary	ovary
8	chr5:115490000-115524400	Weak transcription	Left Ventricle	heart
9	chr5:115492800-115504200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr5:115494000-115504400	Weak transcription	Aorta	Aorta
11	chr5:115494600-115522200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:115495200-115504600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr5:115495200-115521600	Weak transcription	Adipose Nuclei	Adipose
14	chr5:115495200-115524400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr5:115497400-115528800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr5:115498000-115502200	Weak transcription	Fetal Stomach	stomach
17	chr5:115498400-115502200	Weak transcription	Fetal Intestine Small	intestine
18	chr5:115499200-115527400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr5:115499600-115502200	Weak transcription	Lung	lung
20	chr5:115500200-115503000	Strong transcription	Primary B cells from cord blood	blood
21	chr5:115500400-115502200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr5:115500400-115502800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr5:115500600-115502800	Strong transcription	Primary T cells from cord blood	blood
24	chr5:115501200-115501800	ZNF genes & repeats	Primary hematopoietic stem cells	blood
25	chr5:115501200-115511600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr5:115501400-115502200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr5:115501600-115501800	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr5:115501600-115502400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr5:115501800-115502200	Weak transcription	Fetal Muscle Leg	muscle
30	chr5:115501800-115504600	Weak transcription	Monocytes-CD14+_RO01746	blood

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