Variant report

Variant	esv2421650
Chromosome Location	chr4:20556711-20565861
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:20555229..20557515-chr4:20560187..20562423,2	K562	blood:
2	chr4:20555967..20557515-chr4:20560187..20562969,2	K562	blood:
3	chr4:20555967..20557515-chr4:20560187..20562969,2	K562	blood:

Variant related genes	Relation type
ENSG00000145147	chromatin interactions

Extended variants
information (count: 347 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:347 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs544817101	chr4:20556773-20556774	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs563219941	chr4:20556779-20556780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186162571	chr4:20556782-20556783	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs191408927	chr4:20556801-20556802	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530661502	chr4:20556807-20556808	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs548700948	chr4:20556834-20556835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs35356564	chr4:20556876-20556877	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564782531	chr4:20556877-20556878	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs371887631	chr4:20556884-20556885	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs376169496	chr4:20556981-20556982	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572092759	chr4:20557018-20557019	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs551119435	chr4:20557049-20557050	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs114084309	chr4:20557090-20557091	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs571992005	chr4:20557128-20557129	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs539202984	chr4:20557161-20557162	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs551232315	chr4:20557183-20557184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs569248782	chr4:20557207-20557208	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs536791869	chr4:20557213-20557214	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs569341600	chr4:20557230-20557231	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554775569	chr4:20557244-20557245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs183156758	chr4:20557253-20557254	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs533951953	chr4:20557277-20557278	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs576127	chr4:20557302-20557303	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs140775222	chr4:20557374-20557375	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs186023249	chr4:20557393-20557394	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs74340016	chr4:20557398-20557399	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs575242492	chr4:20557416-20557417	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs190738911	chr4:20557452-20557453	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs575088	chr4:20557459-20557460	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs528065638	chr4:20557468-20557469	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs183276649	chr4:20557476-20557477	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs565564415	chr4:20557492-20557493	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs144739904	chr4:20557497-20557498	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs369032314	chr4:20557504-20557505	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs567537014	chr4:20557539-20557540	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550883739	chr4:20557541-20557542	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs147923355	chr4:20557546-20557547	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs532170149	chr4:20557586-20557587	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs140065510	chr4:20557644-20557645	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs552658886	chr4:20557757-20557758	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs11945956	chr4:20557764-20557765	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs142943078	chr4:20557772-20557773	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs151115179	chr4:20557787-20557788	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs558554718	chr4:20557796-20557797	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577515134	chr4:20557802-20557803	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs534729652	chr4:20557808-20557809	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs571433	chr4:20557837-20557838	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs187962182	chr4:20557838-20557839	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs189695962	chr4:20557843-20557844	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542478711	chr4:20557845-20557846	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21785460	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21858162	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Breast cancer	17133270	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Multiple myeloma	17550852	CNVD
Prostate cancer	18632612	CNVD
Ovarian cancer	17908972	CNVD
Olfactory neuroblastoma	18408657	CNVD
Burkitt''s lymphoma	20823134	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelofibrosis	22110671	CNVD
Colorectal cancer	16774939	CNVD
Breast cancer	22522925	CNVD
Breast cancer	22737080	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20492000-20599800	Weak transcription	Aorta	Aorta
2	chr4:20511800-20576200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr4:20519400-20571000	Weak transcription	Adipose Nuclei	Adipose
4	chr4:20533000-20578000	Weak transcription	NHLF	lung
5	chr4:20533800-20576200	Weak transcription	Left Ventricle	heart
6	chr4:20534800-20576400	Weak transcription	Fetal Brain Male	brain
7	chr4:20535800-20593600	Weak transcription	Fetal Kidney	kidney
8	chr4:20536600-20572200	Weak transcription	Placenta	Placenta
9	chr4:20536800-20618600	Weak transcription	Spleen	Spleen
10	chr4:20547000-20576000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr4:20549200-20568800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:20550000-20561400	Strong transcription	NHDF-Ad	bronchial
13	chr4:20550400-20561000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr4:20552000-20557600	Strong transcription	Fetal Lung	lung
15	chr4:20552400-20561000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:20552600-20558600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr4:20553000-20569200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr4:20553600-20565400	Weak transcription	Colon Smooth Muscle	Colon
19	chr4:20554000-20557200	Weak transcription	Lung	lung
20	chr4:20554200-20576600	Weak transcription	Fetal Stomach	stomach
21	chr4:20555000-20557400	Weak transcription	Brain Anterior Caudate	brain
22	chr4:20555200-20557800	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:20555200-20585600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr4:20555400-20562800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:20555400-20569200	Weak transcription	Osteobl	bone
26	chr4:20555600-20599200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr4:20555800-20559600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr4:20556000-20558600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr4:20556000-20559000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:20556000-20566400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr4:20556000-20591000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr4:20557600-20558200	Weak transcription	Fetal Lung	lung
33	chr4:20557800-20558600	Enhancers	HUES48 Cell Line	embryonic stem cell
34	chr4:20558200-20558400	Strong transcription	Fetal Lung	lung
35	chr4:20558400-20558800	Weak transcription	Fetal Lung	lung
36	chr4:20558600-20559400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:20558600-20559400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr4:20558600-20567000	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr4:20558800-20560800	Strong transcription	Fetal Lung	lung
40	chr4:20559000-20560000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr4:20559400-20560000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:20559400-20568200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr4:20560000-20567400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr4:20560000-20583200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr4:20560800-20562200	Weak transcription	Fetal Lung	lung
46	chr4:20561000-20567000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:20561000-20568600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr4:20561400-20567800	Weak transcription	NHDF-Ad	bronchial
49	chr4:20562200-20563000	Strong transcription	Fetal Lung	lung
50	chr4:20562800-20563200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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