Variant report

Variant	esv1797514
Chromosome Location	chr20:13541011-13610424
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr20:13589311..13590026-chr7:39112784..39113357,2	MCF-7	breast:
2	chr20:13545680..13548329-chr20:13550479..13553310,2	K562	blood:
3	chr20:13606363..13608023-chr20:13611661..13613306,2	K562	blood:
4	chr20:13591529..13593880-chr20:13614121..13615856,2	K562	blood:
5	chr20:13556269..13557817-chr20:13617779..13619748,2	MCF-7	breast:
6	chr20:13604911..13607863-chr20:13611443..13613306,2	K562	blood:
7	chr20:13543205..13545985-chr20:13547825..13549640,2	MCF-7	breast:
8	chr20:13606234..13607847-chr20:13615873..13617564,2	K562	blood:
9	chr20:13608491..13611413-chr20:13619029..13620797,2	MCF-7	breast:
10	chr20:13601399..13603374-chr20:13617085..13619673,2	MCF-7	breast:
11	chr20:13590611..13591593-chr20:13752224..13753036,3	MCF-7	breast:
12	chr20:13545680..13548329-chr20:13550479..13553310,2	K562	blood:
13	chr20:13543205..13545985-chr20:13547825..13549640,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000089123	chromatin interactions

Extended variants
information (count: 2565 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:2565 , 50 per page) page: 1 2 3 4 5 6 7 ... 52

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6079107	chr20:13541027-13541028	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs182815147	chr20:13541045-13541046	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs536952081	chr20:13541077-13541078	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs556537130	chr20:13541090-13541091	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs576397560	chr20:13541114-13541115	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs557387114	chr20:13541119-13541120	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs560170325	chr20:13541128-13541129	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs144594126	chr20:13541164-13541165	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs540391907	chr20:13541170-13541171	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs559120292	chr20:13541254-13541255	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs572554580	chr20:13541280-13541281	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs375951983	chr20:13541284-13541285	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs138553329	chr20:13541291-13541292	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187099280	chr20:13541324-13541325	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs371889266	chr20:13541352-13541353	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs368505561	chr20:13541404-13541405	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191296782	chr20:13541438-13541439	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs118101881	chr20:13541450-13541451	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs79569765	chr20:13541497-13541498	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs532156742	chr20:13541526-13541527	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs551735497	chr20:13541578-13541579	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs536295559	chr20:13541595-13541596	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs182576417	chr20:13541621-13541622	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs188040098	chr20:13541631-13541632	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs62207591	chr20:13541711-13541712	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs6033758	chr20:13541712-13541713	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370698253	chr20:13541744-13541745	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs377693708	chr20:13541782-13541783	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs547634876	chr20:13541785-13541786	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs141196765	chr20:13541812-13541813	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs536408031	chr20:13541830-13541831	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs192272226	chr20:13541839-13541840	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs550470551	chr20:13541880-13541881	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150733733	chr20:13541918-13541919	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs185039877	chr20:13541940-13541941	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs558982210	chr20:13541965-13541966	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs369219016	chr20:13541976-13541977	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs545264990	chr20:13542103-13542104	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs6134911	chr20:13542154-13542155	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
40	rs535125477	chr20:13542160-13542161	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs187805777	chr20:13542219-13542220	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs149395917	chr20:13542232-13542233	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs543225169	chr20:13542260-13542261	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs543980216	chr20:13542261-13542262	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs373108551	chr20:13542263-13542264	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs79128435	chr20:13542384-13542385	Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs371595192	chr20:13542407-13542408	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs529809491	chr20:13542412-13542413	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs4814242	chr20:13542423-13542424	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
50	rs192243215	chr20:13542439-13542440	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Breast cancer	16397240	CNVD
abortions and stillbirths	19751515	CNVD
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
Glaucoma	21310917	CNVD
Alagille syndrome	22470819	CNVD
Lung cancer	16773561	CNVD
Renal cell carcinoma	18765545	CNVD
Alagille syndrome	17576883	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Prostate cancer	18632612	CNVD
Ewing''s sarcoma	18628472	CNVD
Glioblastoma multiforme	18628472	CNVD
Leukemia	18628472	CNVD
Myelofibrosis	22110671	CNVD
Kabuki syndrome	21720541	CNVD
Glioblastoma multiforme	22286061	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Neurocytoma	17123091	CNVD
Cancer	20164919	CNVD
Gastric cancer	22014070	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Glioblastoma multiforme	21138945	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:1070 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:13485000-13543600	Weak transcription	Small Intestine	intestine
2	chr20:13492200-13567000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr20:13497800-13563400	Weak transcription	Pancreas	Pancrea
4	chr20:13506400-13558800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
5	chr20:13508000-13542000	Weak transcription	Fetal Intestine Small	intestine
6	chr20:13508000-13563600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr20:13508200-13556400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr20:13508400-13546600	Weak transcription	Fetal Kidney	kidney
9	chr20:13508400-13550400	Weak transcription	GM12878-XiMat	blood
10	chr20:13508400-13556000	Weak transcription	HSMM	muscle
11	chr20:13508400-13559600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr20:13508400-13563400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr20:13509200-13548200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr20:13509200-13556000	Weak transcription	Fetal Stomach	stomach
15	chr20:13509800-13547400	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr20:13512800-13548400	Weak transcription	Left Ventricle	heart
17	chr20:13512800-13556000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr20:13513800-13547600	Weak transcription	Primary hematopoietic stem cells	blood
19	chr20:13514800-13546400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr20:13515000-13605600	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr20:13526800-13561800	Weak transcription	Stomach Mucosa	stomach
22	chr20:13526800-13613800	Weak transcription	Hela-S3	cervix
23	chr20:13527000-13556000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr20:13527400-13552200	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr20:13527400-13560000	Weak transcription	HSMMtube	muscle
26	chr20:13527400-13562200	Weak transcription	Aorta	Aorta
27	chr20:13527400-13563400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr20:13527600-13559600	Weak transcription	HMEC	breast
29	chr20:13527800-13563400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr20:13529200-13552200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr20:13529400-13555800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr20:13530600-13547600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr20:13532400-13547800	Weak transcription	Fetal Lung	lung
34	chr20:13532600-13541400	Weak transcription	Adipose Nuclei	Adipose
35	chr20:13533400-13547000	Weak transcription	A549	lung
36	chr20:13534600-13563600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr20:13534600-13563600	Weak transcription	Lung	lung
38	chr20:13534800-13552200	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr20:13535000-13559600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr20:13535000-13563400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr20:13535200-13560200	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr20:13535400-13547400	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr20:13535400-13556400	Weak transcription	Liver	Liver
44	chr20:13535600-13608000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr20:13535800-13547600	Weak transcription	Brain Angular Gyrus	brain
46	chr20:13535800-13552400	Weak transcription	NHDF-Ad	bronchial
47	chr20:13535800-13561400	Weak transcription	NHEK	skin
48	chr20:13536600-13551400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr20:13536600-13556000	Weak transcription	Fetal Muscle Leg	muscle
50	chr20:13536800-13563400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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