Variant report

Variant	esv3400800
Chromosome Location	chr20:1157970-1158302
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr20:1158236..1159047-chr20:1193190..1194193,4	K562	blood:
2	chr20:809841..812174-chr20:1156542..1159276,2	K562	blood:
3	chr20:1153813..1159160-chr20:1161637..1167432,10	K562	blood:
4	chr20:1154655..1157619-chr20:1157887..1161625,5	K562	blood:
5	chr20:1149468..1153458-chr20:1155297..1158129,3	K562	blood:

Variant related genes	Relation type
ENSG00000125895	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs527875323	chr20:1157996-1157997	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs73893613	chr20:1158002-1158003	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
3	rs73893614	chr20:1158028-1158029	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs533171668	chr20:1158073-1158074	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs549736776	chr20:1158084-1158085	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs188944248	chr20:1158086-1158087	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs111832119	chr20:1158130-1158131	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs79663435	chr20:1158150-1158151	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs372906762	chr20:1158159-1158160	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs534772520	chr20:1158183-1158184	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs556641245	chr20:1158218-1158219	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs571327649	chr20:1158246-1158247	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs537063648	chr20:1158266-1158267	Weak transcription Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs534863753	chr20:1158285-1158286	Weak transcription Strong transcription 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
Melanoma	17363583	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1113800-1159000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
2	chr20:1135600-1159800	Weak transcription	Fetal Heart	heart
3	chr20:1137400-1159200	Strong transcription	Primary T cells from cord blood	blood
4	chr20:1138800-1158800	Strong transcription	Fetal Stomach	stomach
5	chr20:1139000-1158400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr20:1139800-1158200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr20:1140200-1158400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr20:1140200-1159000	Strong transcription	Brain Inferior Temporal Lobe	brain
9	chr20:1140400-1158600	Strong transcription	Stomach Smooth Muscle	stomach
10	chr20:1140400-1159200	Strong transcription	Adipose Nuclei	Adipose
11	chr20:1140800-1159000	Strong transcription	Fetal Brain Female	brain
12	chr20:1143000-1161600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr20:1143800-1159200	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr20:1147000-1161400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr20:1147200-1158200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr20:1148600-1158000	Strong transcription	Brain Germinal Matrix	brain
17	chr20:1148600-1158400	Strong transcription	Spleen	Spleen
18	chr20:1148800-1158400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr20:1148800-1158400	Strong transcription	Lung	lung
20	chr20:1149600-1158400	Strong transcription	Fetal Intestine Small	intestine
21	chr20:1150000-1161800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr20:1150200-1164200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr20:1150600-1158600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr20:1150600-1163000	Weak transcription	Small Intestine	intestine
25	chr20:1150800-1158600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr20:1150800-1159800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr20:1151000-1163000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr20:1151200-1158600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr20:1151200-1159000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr20:1151200-1162400	Weak transcription	HMEC	breast
31	chr20:1151600-1158200	Weak transcription	Fetal Kidney	kidney
32	chr20:1151800-1158400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr20:1151800-1158600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr20:1151800-1159000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr20:1151800-1160000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr20:1151800-1162000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr20:1152000-1160600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr20:1152000-1161600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr20:1152000-1162800	Weak transcription	Fetal Thymus	thymus
40	chr20:1152200-1162800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr20:1152400-1163400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr20:1152600-1161800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr20:1152600-1162200	Weak transcription	Colonic Mucosa	Colon
44	chr20:1152800-1165000	Weak transcription	Brain Substantia Nigra	brain
45	chr20:1153600-1159200	Strong transcription	Brain Cingulate Gyrus	brain
46	chr20:1153600-1160200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr20:1153600-1160600	Weak transcription	Left Ventricle	heart
48	chr20:1153800-1159600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr20:1153800-1163200	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr20:1153800-1165400	Weak transcription	A549	lung

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