Variant report

Variant	esv2151782
Chromosome Location	chr5:118670188-118670189
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:118666728..118668661-chr5:118669320..118670898,2	MCF-7	breast:
2	chr5:118669449..118670965-chr5:118681990..118684958,2	K562	blood:
3	chr5:118670103..118672210-chr5:118744741..118746294,2	MCF-7	breast:
4	chr5:118667237..118669895-chr5:118670074..118672597,2	K562	blood:
5	chr5:118322596..118324427-chr5:118669439..118671541,2	MCF-7	breast:
6	chr5:118650756..118653747-chr5:118669086..118671011,2	MCF-7	breast:
7	chr5:118666448..118669414-chr5:118669488..118671183,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145779	chromatin interactions
ENSG00000169570	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 72 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs111535980	chr5:118670188-118670189	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:72)

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
Esophageal squamous carcinoma	17470683	CNVD
Glaucoma	21310917	CNVD
Glioblastoma multiforme	22286061	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Prostate cancer	22341455	CNVD
Gastric cancer	17229543	CNVD

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118658200-118670400	Weak transcription	Lung	lung
2	chr5:118659600-118677800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:118660200-118675600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr5:118660200-118678600	Weak transcription	HepG2	liver
5	chr5:118660400-118670400	Weak transcription	Right Atrium	heart
6	chr5:118662600-118670400	Weak transcription	Right Ventricle	heart
7	chr5:118664200-118671600	Weak transcription	Small Intestine	intestine
8	chr5:118664200-118673400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr5:118664400-118678200	Weak transcription	Fetal Kidney	kidney
10	chr5:118664800-118670600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr5:118664800-118673000	Weak transcription	HSMM	muscle
12	chr5:118665000-118670400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr5:118665000-118670600	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr5:118665000-118672600	Weak transcription	Hela-S3	cervix
15	chr5:118665200-118670400	Weak transcription	Osteobl	bone
16	chr5:118665400-118670600	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr5:118665400-118670600	Weak transcription	NHLF	lung
18	chr5:118665400-118677000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr5:118665600-118670400	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr5:118665600-118670400	Weak transcription	Aorta	Aorta
21	chr5:118665600-118670600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr5:118665800-118670600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr5:118665800-118672600	Weak transcription	Fetal Intestine Small	intestine
24	chr5:118665800-118673200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr5:118666200-118672200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr5:118666600-118670400	Weak transcription	Adipose Nuclei	Adipose
27	chr5:118666600-118672600	Weak transcription	Fetal Stomach	stomach
28	chr5:118666800-118671000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr5:118667600-118670200	Weak transcription	Spleen	Spleen
30	chr5:118667600-118670400	Weak transcription	Esophagus	oesophagus
31	chr5:118667600-118670400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr5:118667600-118670400	Weak transcription	Left Ventricle	heart
33	chr5:118667600-118670400	Weak transcription	Pancreas	Pancrea
34	chr5:118667600-118671200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr5:118667600-118671800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr5:118667600-118673000	Weak transcription	Gastric	stomach
37	chr5:118667800-118670400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr5:118667800-118670400	Weak transcription	Liver	Liver
39	chr5:118668000-118672200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
40	chr5:118668200-118671200	Flanking Active TSS	Primary T cells from cord blood	blood
41	chr5:118668400-118670400	Flanking Active TSS	Primary B cells from cord blood	blood
42	chr5:118668400-118670800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr5:118668400-118671800	Flanking Active TSS	NHEK	skin
44	chr5:118668400-118672200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr5:118668600-118670600	Active TSS	GM12878-XiMat	blood
46	chr5:118668600-118671000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr5:118668600-118671600	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr5:118668600-118672000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr5:118668800-118670200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr5:118668800-118671200	Active TSS	Duodenum Mucosa	Duodenum

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