Variant report

Variant	esv3403333
Chromosome Location	chr20:24188596-24188888
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 46 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:46 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550130000	chr20:24188606-24188607	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs569975941	chr20:24188610-24188611	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs570791650	chr20:24188623-24188624	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535947629	chr20:24188628-24188629	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs555934994	chr20:24188631-24188632	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs534694418	chr20:24188635-24188636	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs572577865	chr20:24188642-24188643	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs376563350	chr20:24188662-24188663	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs535204344	chr20:24188663-24188664	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs142769810	chr20:24188679-24188680	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140375128	chr20:24188724-24188725	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs35695146	chr20:24188725-24188726	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs543788315	chr20:24188726-24188727	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563292191	chr20:24188727-24188728	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs34114294	chr20:24188728-24188729	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs542226075	chr20:24188729-24188730	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558975252	chr20:24188731-24188732	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs367994823	chr20:24188732-24188733	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs551519540	chr20:24188733-24188734	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs2644841	chr20:24188735-24188736	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs530808600	chr20:24188739-24188740	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs369517037	chr20:24188740-24188741	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs550645627	chr20:24188745-24188746	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs2749425	chr20:24188750-24188751	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs28719682	chr20:24188754-24188755	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs549422515	chr20:24188759-24188760	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs187662576	chr20:24188762-24188763	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs145748657	chr20:24188766-24188767	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs370228161	chr20:24188780-24188781	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs567459248	chr20:24188781-24188782	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs558309088	chr20:24188788-24188789	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs386813466	chr20:24188789-24188790	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs114432533	chr20:24188793-24188794	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs571795578	chr20:24188794-24188795	ZNF genes & repeats Active TSS Weak transcription Flanking Active TSS Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs386813467	chr20:24188812-24188813	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs374492967	chr20:24188818-24188819	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs142590143	chr20:24188822-24188823	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs557331816	chr20:24188826-24188827	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs148470851	chr20:24188842-24188843	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs369848379	chr20:24188843-24188844	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573997432	chr20:24188851-24188852	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs542186019	chr20:24188858-24188859	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs375036028	chr20:24188874-24188875	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs145815531	chr20:24188883-24188884	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs552564758	chr20:24188884-24188885	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs374620852	chr20:24188888-24188889	ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	16272173	CNVD
Melanoma	18172304	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Oral cancer	19627613	CNVD
colon cancer	17210682	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Cancer	16751803	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Colorectal cancer	19359472	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Medulloblastoma	21979893	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
Acute myeloid leukemia	20729466	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Autism	22495311	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Cancer	21183584	CNVD
Myxofibrosarcoma	16751306	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Breast cancer	16608533	CNVD
Bladder cancer	21909424	CNVD
Esophageal cancer	21851588	CNVD
Breast cancer	17133270	CNVD
Thrombophilia	17576883	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	21062444	CNVD
Hepatocellular carcinoma	22174799	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Chordoma	18071362	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	21364760	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24184800-24188600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr20:24185400-24188800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr20:24186200-24188600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr20:24186200-24188600	Enhancers	Fetal Intestine Large	intestine
5	chr20:24187400-24188600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr20:24187400-24188600	Enhancers	Fetal Intestine Small	intestine
7	chr20:24188000-24192200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr20:24188400-24188800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr20:24188400-24188800	Enhancers	Pancreas	Pancrea
10	chr20:24188400-24192200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr20:24188600-24188800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr20:24188600-24189200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
13	chr20:24188600-24189400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr20:24188600-24189600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
15	chr20:24188600-24190400	Weak transcription	Fetal Intestine Large	intestine
16	chr20:24188600-24190800	Weak transcription	Fetal Intestine Small	intestine
17	chr20:24188600-24192200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr20:24188800-24189000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr20:24188800-24192600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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