Variant report

Variant	esv3441088
Chromosome Location	chr5:94848980-94849212
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 10 )
Associated
traits (count: 80 )

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs117185148	chr5:94849056-94849057	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs112154322	chr5:94849066-94849067	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs201018208	chr5:94849083-94849084	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs376756686	chr5:94849084-94849085	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs565358016	chr5:94849086-94849087	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs77640355	chr5:94849092-94849093	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138327480	chr5:94849112-94849113	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs2731833	chr5:94849142-94849143	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs142752493	chr5:94849203-94849204	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536851249	chr5:94849206-94849207	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:80)

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
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
Merkel cell carcinoma	19020549	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
Testicular cancer	18059402	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16573809	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Mental retardation	19471318	CNVD
Renal cell carcinoma	18194544	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Cancer	20164920	CNVD
Myelodysplastic syndrome	21251322	CNVD
abnormal development	18461090	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Williams Syndrome	20824207	CNVD
small cell lung cancer	20016488	CNVD
Schizophrenia	20967226	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:130 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:94811000-94889400	Weak transcription	Stomach Mucosa	stomach
2	chr5:94815400-94853200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:94817200-94849000	Weak transcription	Small Intestine	intestine
4	chr5:94817400-94865600	Strong transcription	Osteobl	bone
5	chr5:94818000-94882400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr5:94824400-94862200	Weak transcription	Colonic Mucosa	Colon
7	chr5:94824800-94866000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr5:94825000-94886200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:94825200-94866000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr5:94825400-94852200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:94825400-94886400	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr5:94826000-94886400	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr5:94826800-94886400	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr5:94827200-94865600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr5:94827200-94866800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr5:94827200-94889600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr5:94828600-94873600	Strong transcription	Primary T helper cells PMA-I stimulated	--
18	chr5:94828800-94862600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr5:94828800-94885800	Strong transcription	Fetal Thymus	thymus
20	chr5:94829200-94866200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr5:94831400-94868400	Strong transcription	Fetal Intestine Large	intestine
22	chr5:94831600-94856200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr5:94835200-94864800	Weak transcription	Spleen	Spleen
24	chr5:94835200-94881000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:94835400-94868000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:94836200-94866400	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr5:94836600-94860800	Strong transcription	Placenta	Placenta
28	chr5:94836600-94861000	Strong transcription	Duodenum Mucosa	Duodenum
29	chr5:94836600-94867600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:94837000-94866600	Strong transcription	Adipose Nuclei	Adipose
31	chr5:94837200-94851000	Strong transcription	Left Ventricle	heart
32	chr5:94837400-94856200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr5:94839400-94852800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr5:94839600-94851400	Weak transcription	A549	lung
35	chr5:94841400-94855800	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr5:94841400-94883400	Strong transcription	Primary B cells from cord blood	blood
37	chr5:94841600-94867600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:94841800-94886000	Strong transcription	Primary T cells fromperipheralblood	blood
39	chr5:94842000-94849800	Strong transcription	Skeletal Muscle Male	skeletal muscle
40	chr5:94842000-94853600	Strong transcription	Stomach Smooth Muscle	stomach
41	chr5:94842000-94854800	Strong transcription	GM12878-XiMat	blood
42	chr5:94842000-94858200	Strong transcription	Fetal Lung	lung
43	chr5:94842000-94866000	Strong transcription	NH-A	brain
44	chr5:94842000-94873600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
45	chr5:94842000-94884800	Strong transcription	Dnd41	blood
46	chr5:94842200-94851800	Strong transcription	Fetal Muscle Leg	muscle
47	chr5:94842200-94854600	Strong transcription	HUES6 Cell Line	embryonic stem cell
48	chr5:94842200-94859000	Strong transcription	Rectal Mucosa Donor 31	rectum
49	chr5:94842200-94882000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:94842200-94886000	Strong transcription	Primary B cells from peripheral blood	blood

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