Variant report

Variant	esv2524932
Chromosome Location	chr20:1130006-1131500
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:1098102..1099832-chr20:1129647..1131844,2	MCF-7	breast:
2	chr20:1125308..1130487-chr20:1130887..1133332,4	K562	blood:
3	chr20:1125308..1130487-chr20:1130887..1133332,4	K562	blood:

Variant related genes	Relation type
ENSG00000125818	chromatin interactions

Extended variants
information (count: 54 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs545041742	chr20:1130008-1130009	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs373610719	chr20:1130009-1130010	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs6077915	chr20:1130033-1130034	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs530500852	chr20:1130044-1130045	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs374655124	chr20:1130166-1130167	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs550523063	chr20:1130187-1130188	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs539281611	chr20:1130208-1130209	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs61048625	chr20:1130209-1130210	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs115382330	chr20:1130214-1130215	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs149803325	chr20:1130224-1130225	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs79478713	chr20:1130314-1130315	Weak transcription Strong transcription Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs557747190	chr20:1130408-1130409	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571343210	chr20:1130431-1130432	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs183657552	chr20:1130436-1130437	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs556884851	chr20:1130446-1130447	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs145735487	chr20:1130490-1130491	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs189154739	chr20:1130514-1130515	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs553102120	chr20:1130534-1130535	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs6077918	chr20:1130536-1130537	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs73604113	chr20:1130605-1130606	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs11697802	chr20:1130627-1130628	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
22	rs6077919	chr20:1130691-1130692	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs190376179	chr20:1130772-1130773	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs6077921	chr20:1130782-1130783	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs386811589	chr20:1130806-1130807	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs6104662	chr20:1130823-1130824	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs530566753	chr20:1130865-1130866	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs544216456	chr20:1130891-1130892	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs76184961	chr20:1130905-1130906	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs141413941	chr20:1130916-1130917	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs77715652	chr20:1130922-1130923	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs572772231	chr20:1130932-1130933	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs566229951	chr20:1130950-1130951	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs146992697	chr20:1130975-1130976	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs118099569	chr20:1130986-1130987	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs138129472	chr20:1130996-1130997	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs6040154	chr20:1131029-1131030	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs6108702	chr20:1131053-1131054	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
39	rs182797360	chr20:1131067-1131068	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs561098980	chr20:1131089-1131090	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs111349364	chr20:1131090-1131091	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs529928947	chr20:1131116-1131117	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs6040155	chr20:1131119-1131120	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs552974606	chr20:1131177-1131178	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs573019966	chr20:1131178-1131179	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs78654849	chr20:1131180-1131181	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs143599809	chr20:1131218-1131219	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs187522708	chr20:1131230-1131231	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs56398212	chr20:1131308-1131309	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs544228936	chr20:1131343-1131344	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Hodgkin''s lymphoma	18641027	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Glioblastoma multiforme	22286061	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	19455253	CNVD
Ovarian cancer	20844748	CNVD
Breast cancer	17603634	CNVD
Colorectal cancer	19359472	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Intracranial aneurysm	16715129	CNVD
Colorectal cancer	16774939	CNVD
Autism	18414403	CNVD
Neurocytoma	17123091	CNVD
Medulloblastoma	21979893	CNVD
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
Esophageal squamous carcinoma	18350619	CNVD
Human rectal carcinomas	16397240	CNVD
Olfactory neuroblastoma	18408657	CNVD
Central neurocytomas	17123091	CNVD
Colorectal cancer	16272173	CNVD
Gastric cancer	17908304	CNVD
Urothelial carcinoma	21177765	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	20729466	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Colorectal cancer	21645411	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	17363583	CNVD

Chromatin state (count:168 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1100400-1132600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr20:1100400-1146600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr20:1103600-1130800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr20:1103600-1130800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr20:1104600-1135800	Strong transcription	Dnd41	blood
6	chr20:1112200-1137400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr20:1112400-1154800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr20:1113800-1130200	Strong transcription	HepG2	liver
9	chr20:1113800-1135200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr20:1113800-1159000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr20:1114000-1138000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr20:1115200-1153600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr20:1115800-1137800	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr20:1116000-1141400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr20:1116600-1144600	Weak transcription	Stomach Mucosa	stomach
16	chr20:1116800-1141800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr20:1117000-1130200	Weak transcription	Psoas Muscle	Psoas
18	chr20:1117000-1141200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr20:1117000-1141600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr20:1117200-1144600	Weak transcription	Hela-S3	cervix
21	chr20:1118000-1134000	Weak transcription	HSMMtube	muscle
22	chr20:1118000-1135400	Weak transcription	Fetal Brain Male	brain
23	chr20:1118000-1135600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr20:1120200-1133000	Weak transcription	Fetal Kidney	kidney
25	chr20:1121000-1140800	Weak transcription	K562	blood
26	chr20:1121200-1140400	Weak transcription	NH-A	brain
27	chr20:1121400-1144600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr20:1121800-1134000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr20:1121800-1141200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
30	chr20:1122400-1132800	Weak transcription	NHDF-Ad	bronchial
31	chr20:1123600-1130800	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr20:1123800-1130400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr20:1123800-1130600	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr20:1124000-1136600	Strong transcription	Primary B cells from cord blood	blood
35	chr20:1124000-1136600	Strong transcription	Primary T cells from cord blood	blood
36	chr20:1124200-1130800	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr20:1124200-1131400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr20:1125800-1131200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr20:1125800-1138200	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr20:1126400-1130400	Strong transcription	HMEC	breast
41	chr20:1127000-1130600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr20:1127200-1141200	Weak transcription	HUVEC	blood vessel
43	chr20:1127200-1143800	Weak transcription	Colon Smooth Muscle	Colon
44	chr20:1127400-1130200	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr20:1127400-1141400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr20:1127600-1134000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr20:1128000-1135600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr20:1128000-1140600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr20:1128200-1131000	Weak transcription	Osteobl	bone
50	chr20:1128200-1134000	Weak transcription	HSMM	muscle

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