Variant report

Variant	esv3438421
Chromosome Location	chr4:20716154-20720452
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:20699912..20701731-chr4:20714831..20716673,2	K562	blood:

Extended variants
information (count: 215 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:215 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs140873498	chr4:20716158-20716159	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
2	rs181401991	chr4:20716159-20716160	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs4510461	chr4:20716165-20716166	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs569756617	chr4:20716173-20716174	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs537044804	chr4:20716190-20716191	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs199540188	chr4:20716210-20716211	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs200789347	chr4:20716217-20716218	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs549695733	chr4:20716219-20716220	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs568001172	chr4:20716220-20716221	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs201978108	chr4:20716224-20716225	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs535307778	chr4:20716261-20716262	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs553906525	chr4:20716282-20716283	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs572054593	chr4:20716310-20716311	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs185135785	chr4:20716338-20716339	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs376469602	chr4:20716346-20716347	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs1988796	chr4:20716404-20716405	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs576132159	chr4:20716420-20716421	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs543426464	chr4:20716429-20716430	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs562383447	chr4:20716450-20716451	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs574245398	chr4:20716470-20716471	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs10011908	chr4:20716479-20716480	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs559857412	chr4:20716483-20716484	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs533354723	chr4:20716520-20716521	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs551506532	chr4:20716521-20716522	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs563419969	chr4:20716549-20716550	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs530849483	chr4:20716560-20716561	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs570531614	chr4:20716598-20716599	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs568287654	chr4:20716608-20716609	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs190068254	chr4:20716642-20716643	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs547363761	chr4:20716660-20716661	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs565912003	chr4:20716662-20716663	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs181804765	chr4:20716680-20716681	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs557918582	chr4:20716697-20716698	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs576170983	chr4:20716701-20716702	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs537065612	chr4:20716704-20716705	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs56266369	chr4:20716709-20716710	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs574262605	chr4:20716764-20716765	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs62410129	chr4:20716812-20716813	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs559792010	chr4:20716813-20716814	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs578145596	chr4:20716835-20716836	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs567168486	chr4:20716886-20716887	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs186417185	chr4:20716895-20716896	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs9991750	chr4:20716905-20716906	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
44	rs530887349	chr4:20716936-20716937	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs555689708	chr4:20716953-20716954	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs548970816	chr4:20716965-20716966	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs191225589	chr4:20716982-20716983	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs528471489	chr4:20717019-20717020	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs547694533	chr4:20717031-20717032	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs564020251	chr4:20717049-20717050	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

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
Cancer	20164919	CNVD

Chromatin state (count:285 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:20702400-20722600	Weak transcription	Spleen	Spleen
2	chr4:20702600-20717200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:20703000-20717200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr4:20703000-20717400	Weak transcription	Fetal Heart	heart
5	chr4:20703000-20721800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr4:20703000-20722800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:20703000-20741400	Weak transcription	Stomach Mucosa	stomach
8	chr4:20703200-20722800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr4:20703200-20741000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr4:20703400-20722800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr4:20703400-20722800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:20703400-20723600	Weak transcription	Pancreas	Pancrea
13	chr4:20703400-20724000	Weak transcription	A549	lung
14	chr4:20703600-20716200	Weak transcription	Hela-S3	cervix
15	chr4:20703600-20717200	Weak transcription	Brain Germinal Matrix	brain
16	chr4:20705000-20718200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr4:20705400-20718200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr4:20706000-20717400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:20706600-20722600	Weak transcription	Gastric	stomach
20	chr4:20706800-20738600	Weak transcription	Psoas Muscle	Psoas
21	chr4:20707200-20716800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr4:20707200-20717400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr4:20707200-20717400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr4:20707200-20722800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:20707200-20722800	Weak transcription	Thymus	Thymus
26	chr4:20707200-20723200	Weak transcription	Esophagus	oesophagus
27	chr4:20707200-20723400	Weak transcription	Colonic Mucosa	Colon
28	chr4:20707200-20724000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr4:20707200-20739400	Weak transcription	HepG2	liver
30	chr4:20707400-20717200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr4:20707400-20722600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:20707600-20717200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr4:20707600-20717200	Weak transcription	Left Ventricle	heart
34	chr4:20707600-20717200	Weak transcription	Lung	lung
35	chr4:20707600-20717200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr4:20707600-20717400	Weak transcription	HSMMtube	muscle
37	chr4:20707600-20722200	Weak transcription	Small Intestine	intestine
38	chr4:20707600-20723000	Weak transcription	Right Ventricle	heart
39	chr4:20707600-20724000	Weak transcription	Primary neutrophils fromperipheralblood	blood
40	chr4:20707600-20724000	Weak transcription	NHEK	skin
41	chr4:20707600-20724000	Weak transcription	NHLF	lung
42	chr4:20708000-20717200	Weak transcription	NH-A	brain
43	chr4:20708000-20724000	Weak transcription	HMEC	breast
44	chr4:20708200-20733600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr4:20709400-20717200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:20709400-20717200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr4:20709400-20717200	Weak transcription	Primary B cells from peripheral blood	blood
48	chr4:20709400-20717200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr4:20709400-20717200	Weak transcription	Aorta	Aorta
50	chr4:20709400-20717200	Weak transcription	Fetal Muscle Leg	muscle

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