Variant report

Variant	esv3423643
Chromosome Location	chr5:76122345-76122755
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2243036	chr5:76122388-76122389	Weak transcription Strong transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs549985950	chr5:76122458-76122459	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs2243037	chr5:76122465-76122466	Enhancers Weak transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs535789619	chr5:76122487-76122488	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs181801544	chr5:76122512-76122513	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs2243075	chr5:76122519-76122520	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534617057	chr5:76122537-76122538	Enhancers Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs557858966	chr5:76122680-76122681	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs2243038	chr5:76122720-76122721	Enhancers Weak transcription Genic enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
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
Myeloproliferative neoplasm	20015882	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Breast cancer	22032731	CNVD
Prostate cancer	21965145	CNVD
Spinal muscular atrophy	21762474	CNVD
Esophageal cancer	20955586	CNVD
Congenital anomalies of the kidney and urinary tract	18694510	CNVD
Ovarian cancer	20844748	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
Hepatocellular carcinoma	16750200	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
Oral cancer	21386901	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	19602461	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Retinoblastoma	22278416	CNVD
Bipolar disorder	18458673	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Merkel cell carcinoma	19020549	CNVD
Squamous cell cancer	20885788	CNVD
Neurodevelopmental disorder	22521361	CNVD
Prostate cancer	18632612	CNVD
Spinal muscular atrophy	15981080	CNVD
Spinal muscular atrophy	18839960	CNVD
Spinal muscular atrophy	19716110	CNVD
Glioblastoma multiforme	22286061	CNVD
craniofacial dysmorphism	21918468	CNVD
Multiple myeloma	16616336	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	17133270	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	20729466	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ovarian cancer	21720365	CNVD
Acute myeloid leukemia	21251322	CNVD
Myelofibrosis	22110671	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Schizophrenia	23813976	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Lung squamous cell carcinoma	22363434	CNVD

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76116000-76131600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr5:76116200-76126800	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr5:76116400-76131600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr5:76116600-76128800	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr5:76116800-76134200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:76117000-76126600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr5:76117000-76128600	Weak transcription	NHLF	lung
8	chr5:76117200-76128400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr5:76117200-76128600	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:76117200-76128800	Weak transcription	Monocytes-CD14+_RO01746	blood
11	chr5:76117400-76125800	Weak transcription	HUVEC	blood vessel
12	chr5:76117400-76125800	Weak transcription	NH-A	brain
13	chr5:76117400-76126400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:76117400-76126600	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr5:76117400-76128400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr5:76117400-76130800	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr5:76117400-76134200	Weak transcription	Stomach Mucosa	stomach
18	chr5:76117400-76135200	Weak transcription	Colonic Mucosa	Colon
19	chr5:76117600-76128600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr5:76117800-76126600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:76118600-76122400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr5:76118800-76134600	Weak transcription	HepG2	liver
23	chr5:76119200-76123800	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr5:76119400-76123000	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr5:76119400-76128600	Weak transcription	Liver	Liver
26	chr5:76119600-76122400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr5:76120400-76122400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr5:76120400-76123000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr5:76121000-76123000	Genic enhancers	Fetal Intestine Large	intestine
30	chr5:76121200-76123000	Enhancers	NHEK	skin
31	chr5:76121400-76122600	Enhancers	Fetal Intestine Small	intestine
32	chr5:76121400-76123000	Enhancers	HMEC	breast
33	chr5:76121600-76125800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr5:76121800-76128600	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr5:76122000-76122400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr5:76122200-76122400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr5:76122200-76122400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr5:76122200-76122600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr5:76122200-76122800	Enhancers	A549	lung
40	chr5:76122400-76122800	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr5:76122400-76123000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr5:76122400-76123000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr5:76122400-76123000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr5:76122400-76126400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:76122600-76122800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr5:76122600-76122800	Genic enhancers	Fetal Intestine Small	intestine
47	chr5:76122600-76126600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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