Variant report

Variant	esv3445094
Chromosome Location	chr5:177950946-177953744
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 104 )
Associated
traits (count: 100 )

Variant overlapped rSNPs/rCNVs (count:104 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142529814	chr5:177950948-177950949	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs111890172	chr5:177950967-177950968	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs147213624	chr5:177951089-177951090	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs529937422	chr5:177951123-177951124	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs186177314	chr5:177951125-177951126	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs140660599	chr5:177951126-177951127	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144397798	chr5:177951217-177951218	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs189943275	chr5:177951264-177951265	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs547761689	chr5:177951278-177951279	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376080573	chr5:177951283-177951284	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs566269583	chr5:177951286-177951287	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs540013958	chr5:177951287-177951288	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs557904212	chr5:177951328-177951329	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs569802961	chr5:177951343-177951344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs537122397	chr5:177951396-177951397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs377515985	chr5:177951437-177951438	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs116316669	chr5:177951516-177951517	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs558072194	chr5:177951575-177951576	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs541328691	chr5:177951576-177951577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs552944088	chr5:177951581-177951582	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs577437103	chr5:177951630-177951631	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs140297073	chr5:177951654-177951655	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs563125688	chr5:177951681-177951682	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs531718203	chr5:177951687-177951688	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs549329510	chr5:177951700-177951701	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs562149750	chr5:177951712-177951713	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs529229071	chr5:177951736-177951737	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs632384	chr5:177951781-177951782	Weak transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs111590565	chr5:177951797-177951798	Weak transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs566346135	chr5:177951841-177951842	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs376141348	chr5:177951854-177951855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs533653950	chr5:177951857-177951858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs75848518	chr5:177951866-177951867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs370202952	chr5:177951876-177951877	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs150001568	chr5:177951888-177951889	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs145255381	chr5:177951901-177951902	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs28699028	chr5:177951907-177951908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs149134219	chr5:177951909-177951910	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs567256070	chr5:177951920-177951921	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534294816	chr5:177951939-177951940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs553247173	chr5:177952020-177952021	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs75202239	chr5:177952021-177952022	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs180746870	chr5:177952060-177952061	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs4355536	chr5:177952071-177952072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs575083469	chr5:177952077-177952078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs111601424	chr5:177952111-177952112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs111070775	chr5:177952128-177952129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs79505655	chr5:177952131-177952132	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs4045503	chr5:177952191-177952192	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs1694803	chr5:177952251-177952252	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:100)

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
Thoracic aortic aneurysm	21092924	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
small cell lung cancer	20016488	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
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177946600-177951400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr5:177947200-177953200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr5:177947800-177952800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr5:177948000-177952800	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:177950400-177953800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr5:177950800-177951400	Enhancers	Dnd41	blood
7	chr5:177951400-177951600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr5:177951400-177951600	Weak transcription	Right Atrium	heart
9	chr5:177951600-177951800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr5:177951600-177951800	Enhancers	Right Atrium	heart
11	chr5:177951800-177952800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:177951800-177953000	Weak transcription	Right Atrium	heart
13	chr5:177952800-177953200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr5:177952800-177953200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
15	chr5:177952800-177954000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr5:177952800-177954400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr5:177952800-177955200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:177952800-177956400	Enhancers	Left Ventricle	heart
19	chr5:177953000-177953200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:177953000-177953400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr5:177953000-177953400	Enhancers	Psoas Muscle	Psoas
22	chr5:177953000-177953600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr5:177953000-177953800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr5:177953000-177954200	Enhancers	H9 Cell Line	embryonic stem cell
25	chr5:177953000-177954200	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr5:177953000-177954400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr5:177953000-177954800	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr5:177953000-177954800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr5:177953000-177954800	Enhancers	Right Atrium	heart
30	chr5:177953000-177955200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr5:177953000-177956000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr5:177953000-177956800	Enhancers	Right Ventricle	heart
33	chr5:177953200-177954200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
34	chr5:177953200-177954400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr5:177953200-177954400	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr5:177953200-177954400	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr5:177953200-177954400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:177953200-177954600	Enhancers	H1 Cell Line	embryonic stem cell
39	chr5:177953200-177954600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr5:177953200-177954600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr5:177953200-177954600	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr5:177953200-177955000	Enhancers	Fetal Heart	heart
43	chr5:177953200-177955400	Enhancers	Fetal Stomach	stomach
44	chr5:177953200-177955800	Enhancers	Cortex derived primary cultured neurospheres	brain
45	chr5:177953400-177953600	Enhancers	Stomach Smooth Muscle	stomach
46	chr5:177953400-177953800	Bivalent Enhancer	Fetal Muscle Leg	muscle
47	chr5:177953400-177953800	Weak transcription	Psoas Muscle	Psoas
48	chr5:177953400-177954200	Enhancers	NHDF-Ad	bronchial
49	chr5:177953400-177954400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr5:177953400-177954600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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