Variant report

Variant	esv3438260
Chromosome Location	chr20:1096340-1096695
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr20:1096291-1096379	HepG2	liver:	n/a	n/a
2	POLR2A	chr20:1096419-1096674	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr20:1094199..1096459-chr20:1097621..1099554,3	MCF-7	breast:
2	chr20:1093479..1095284-chr20:1095646..1099615,3	K562	blood:

Variant related genes	Relation type
PSMF1	TF binding region
ENSG00000125818	chromatin interactions

Extended variants
information (count: 20 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34304279	chr20:1096378-1096379	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs577008075	chr20:1096380-1096381	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs11087011	chr20:1096381-1096382	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs538364053	chr20:1096382-1096383	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs397933654	chr20:1096395-1096396	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs200496274	chr20:1096396-1096397	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568891164	chr20:1096409-1096410	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs537876073	chr20:1096454-1096455	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs573918607	chr20:1096461-1096462	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs190659946	chr20:1096478-1096479	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs6039939	chr20:1096518-1096519	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs6039940	chr20:1096536-1096537	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs536936369	chr20:1096605-1096606	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs4813028	chr20:1096630-1096631	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	mRNA abundance
15	rs573342449	chr20:1096632-1096633	Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs370808072	chr20:1096678-1096679	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs386393078	chr20:1096679-1096680	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs386393079	chr20:1096686-1096687	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs386393080	chr20:1096691-1096692	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs11473727	chr20:1096692-1096693	Weak transcription	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
XY gonadal dysgenesis	20685758	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr20:1085600-1098200	Weak transcription	Spleen	Spleen
2	chr20:1089000-1098200	Weak transcription	K562	blood
3	chr20:1089200-1098200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr20:1089400-1098200	Weak transcription	Primary B cells from peripheral blood	blood
5	chr20:1094000-1097800	Weak transcription	Pancreas	Pancrea
6	chr20:1095000-1098400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr20:1095000-1098600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr20:1095000-1098600	Weak transcription	Fetal Muscle Trunk	muscle
9	chr20:1095200-1098200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr20:1095200-1098200	Weak transcription	Adipose Nuclei	Adipose
11	chr20:1095200-1098200	Weak transcription	A549	lung
12	chr20:1095200-1098600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr20:1095400-1098400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr20:1095400-1098400	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr20:1095600-1098400	Weak transcription	Primary T cells from cord blood	blood
16	chr20:1096000-1096400	Enhancers	HepG2	liver
17	chr20:1096200-1096400	Enhancers	Rectal Mucosa Donor 31	rectum
18	chr20:1096200-1098600	Weak transcription	Gastric	stomach
19	chr20:1096200-1098600	Weak transcription	Stomach Mucosa	stomach
20	chr20:1096400-1098400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr20:1096400-1098400	Weak transcription	HepG2	liver

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