Variant report

Variant	esv2629879
Chromosome Location	chr20:24955256-24956508
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	chr20:24949924..24953271-chr20:24955139..24959186,4	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:32 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs200329640	chr20:24955275-24955276	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs559829987	chr20:24955324-24955325	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs556868359	chr20:24955346-24955347	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs113625449	chr20:24955354-24955355	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs566576001	chr20:24955368-24955369	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs551796997	chr20:24955383-24955384	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564936739	chr20:24955422-24955423	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs148698249	chr20:24955431-24955432	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs550877645	chr20:24955463-24955464	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs376578847	chr20:24955534-24955535	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs80243165	chr20:24955539-24955540	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs374278524	chr20:24955774-24955775	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs566609432	chr20:24955810-24955811	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs538359725	chr20:24955881-24955882	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs192066289	chr20:24955898-24955899	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs6132777	chr20:24955981-24955982	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
17	rs6132778	chr20:24956061-24956062	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs183403605	chr20:24956065-24956066	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs377331564	chr20:24956075-24956076	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs540460905	chr20:24956076-24956077	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553185266	chr20:24956091-24956092	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs6036999	chr20:24956133-24956134	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs112863740	chr20:24956138-24956139	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs150789720	chr20:24956186-24956187	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs185842193	chr20:24956205-24956206	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs115979838	chr20:24956206-24956207	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs561287185	chr20:24956234-24956235	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs530229905	chr20:24956238-24956239	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs545695092	chr20:24956307-24956308	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs547125508	chr20:24956309-24956310	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs75229351	chr20:24956321-24956322	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs139540040	chr20:24956406-24956407	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	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
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
Oral cancer	21386901	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:150 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:24935200-24957600	Strong transcription	Liver	Liver
2	chr20:24935200-24971800	Weak transcription	K562	blood
3	chr20:24936000-24955600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr20:24936400-24956000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
5	chr20:24936800-24955400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr20:24936800-24955800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr20:24937400-24957200	Strong transcription	HepG2	liver
8	chr20:24938200-24955600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr20:24942000-24972400	Weak transcription	Fetal Heart	heart
10	chr20:24942800-24961600	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr20:24943200-24955400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr20:24943200-24965000	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr20:24944400-24955800	Strong transcription	Primary hematopoietic stem cells	blood
14	chr20:24944400-24958200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr20:24944800-24960600	Weak transcription	Stomach Mucosa	stomach
16	chr20:24950000-24966400	Weak transcription	Small Intestine	intestine
17	chr20:24950800-24961000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr20:24951600-24960400	Genic enhancers	Primary neutrophils fromperipheralblood	blood
19	chr20:24952600-24957200	Strong transcription	Primary B cells from cord blood	blood
20	chr20:24952800-24961000	Weak transcription	NHDF-Ad	bronchial
21	chr20:24953200-24955400	Strong transcription	Hela-S3	cervix
22	chr20:24953200-24962200	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr20:24953600-24956200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr20:24953600-24956400	Weak transcription	Fetal Lung	lung
25	chr20:24953600-24957000	Weak transcription	Fetal Kidney	kidney
26	chr20:24953600-24958000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr20:24953600-24960400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr20:24953600-24960800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr20:24953600-24972000	Weak transcription	NH-A	brain
30	chr20:24953800-24957600	Weak transcription	Fetal Brain Male	brain
31	chr20:24954000-24956600	Enhancers	HUVEC	blood vessel
32	chr20:24954000-24957200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr20:24954000-24960600	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr20:24954000-24961000	Weak transcription	Colon Smooth Muscle	Colon
35	chr20:24954200-24955600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr20:24954200-24955800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr20:24954200-24956800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr20:24954200-24957000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr20:24954200-24957000	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr20:24954200-24957000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr20:24954200-24957000	Weak transcription	Osteobl	bone
42	chr20:24954200-24957200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr20:24954200-24957200	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr20:24954200-24957200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr20:24954200-24957400	Weak transcription	Brain Cingulate Gyrus	brain
46	chr20:24954200-24957400	Weak transcription	Brain Substantia Nigra	brain
47	chr20:24954200-24958000	Weak transcription	Colonic Mucosa	Colon
48	chr20:24954200-24958400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr20:24954200-24958600	Weak transcription	Muscle Satellite Cultured Cells	--
50	chr20:24954200-24958800	Weak transcription	Skeletal Muscle Male	skeletal muscle

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