Variant report

Variant	esv2058026
Chromosome Location	chr5:179712768-179712771
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:179707659..179712077-chr5:179712622..179717997,8	MCF-7	breast:
2	chr5:179712316..179714122-chr5:179920308..179921857,2	K562	blood:
3	chr5:179712494..179714081-chr5:179717178..179718692,2	K562	blood:

Variant related genes	Relation type
ENSG00000113300	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 103 )

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	rs35777469	chr5:179712768-179712769	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
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
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Acute lymphoblastic leukemia	20067559	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
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
Thyroid cancer	19087340	CNVD
Acute myeloid leukemia	20729466	CNVD
lymphocytic leukemia	21291569	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Renal cell carcinoma	19377443	CNVD
Lung cancer	18438408	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18592004	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Prostate cancer	18632612	CNVD
epilepsy	18472482	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Sotos syndrome	21572526	CNVD
T-cell acute lymphoblastic leukemia	20065082	CNVD
Sotos syndrome	17561922	CNVD
Sotos syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Sotos syndrome	22470819	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Acute myeloid leukemia	18000384	CNVD
Sudden cardiac death	19188705	CNVD
Basal cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Olfactory neuroblastoma	18408657	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Lung cancer	17297452	CNVD
Cancer	20164920	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21804112	CNVD
Myelofibrosis	22110671	CNVD
Sotos syndrome	22283845	CNVD
Breast cancer	16272173	CNVD
Sotos syndrome	20503325	CNVD
Lung adenocarcinoma	17086460	CNVD
Congenital Hypertrichosis Syndrome	21636067	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	19181860	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Ehlers-danlos syndrome	17576883	CNVD
Lung cancer	17086460	CNVD
Autism	19246517	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Autism	20808228	CNVD
small cell lung cancer	20016488	CNVD
Autism	22543975	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD
Melanoma	20877625	CNVD

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179653600-179714600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr5:179670200-179712800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:179692800-179718000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr5:179694800-179717600	Weak transcription	HUVEC	blood vessel
5	chr5:179696400-179714800	Weak transcription	Fetal Brain Male	brain
6	chr5:179699000-179714600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:179702400-179714000	Strong transcription	Thymus	Thymus
8	chr5:179703000-179717400	Weak transcription	NHLF	lung
9	chr5:179703400-179714000	Strong transcription	Sigmoid Colon	Sigmoid Colon
10	chr5:179703800-179714600	Strong transcription	Dnd41	blood
11	chr5:179704200-179714200	Strong transcription	Stomach Smooth Muscle	stomach
12	chr5:179704600-179712800	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr5:179704600-179716600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr5:179704600-179716600	Weak transcription	Psoas Muscle	Psoas
15	chr5:179704600-179716800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr5:179704600-179717200	Weak transcription	Small Intestine	intestine
17	chr5:179704600-179718000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr5:179705200-179717200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr5:179705600-179717600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr5:179706200-179712800	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:179706600-179712800	Strong transcription	Primary B cells from cord blood	blood
22	chr5:179706600-179717200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr5:179706600-179717200	Weak transcription	Colon Smooth Muscle	Colon
24	chr5:179706800-179718400	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr5:179707000-179713800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr5:179707200-179713600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr5:179707200-179713800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr5:179707200-179717200	Weak transcription	NHDF-Ad	bronchial
29	chr5:179707400-179717200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr5:179707600-179717600	Weak transcription	Fetal Kidney	kidney
31	chr5:179707800-179713600	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr5:179707800-179716400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
33	chr5:179708000-179717200	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr5:179708200-179717200	Weak transcription	HSMM	muscle
35	chr5:179708400-179717400	Weak transcription	Osteobl	bone
36	chr5:179708400-179717800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr5:179709000-179714000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr5:179709600-179715200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr5:179709800-179712800	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr5:179710000-179716800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr5:179710000-179717400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr5:179710000-179717800	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr5:179710200-179716600	Weak transcription	Colonic Mucosa	Colon
44	chr5:179710200-179717000	Weak transcription	Ovary	ovary
45	chr5:179710400-179713000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
46	chr5:179710400-179713400	Weak transcription	HSMMtube	muscle
47	chr5:179710400-179714400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr5:179710400-179716600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr5:179710400-179716600	Weak transcription	Esophagus	oesophagus
50	chr5:179710400-179717200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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