Variant report

Variant	esv2046490
Chromosome Location	chr3:142721893-142721894
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr3:142719115-142722150	Hela-S3	cervix:	n/a	n/a
2	MXI1	chr3:142719220-142721923	Hela-S3	cervix:	n/a	chr3:142721094-142721103
3	POLR2A	chr3:142719261-142721981	K562	blood:	n/a	n/a
4	POLR2A	chr3:142718446-142722255	K562	blood:	n/a	n/a
5	TBL1XR1	chr3:142721055-142722215	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:142297403..142299294-chr3:142720282..142722143,3	MCF-7	breast:
2	chr3:142295918..142298932-chr3:142719049..142722504,4	MCF-7	breast:
3	chr3:142296202..142300183-chr3:142719946..142722583,4	K562	blood:
4	chr3:142295888..142299099-chr3:142720440..142723490,3	K562	blood:
5	chr3:142442669..142444351-chr3:142720029..142722522,2	MCF-7	breast:
6	chr3:142605846..142608751-chr3:142718093..142722238,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268129	TF binding region
ENSG00000144935	chromatin interactions
ENSG00000242390	chromatin interactions
ENSG00000163710	chromatin interactions
ENSG00000175054	chromatin interactions

Extended variants
information (count: 1 )
Associated
traits (count: 58 )

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs202211773	chr3:142721893-142721894	Flanking Active TSS Weak transcription Active TSS Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142718200-142725000	Active TSS	K562	blood
2	chr3:142718400-142722000	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr3:142718400-142722400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:142718600-142722200	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr3:142718600-142722200	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr3:142718800-142722200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:142718800-142722400	Active TSS	H1 Cell Line	embryonic stem cell
8	chr3:142718800-142722400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr3:142718800-142722400	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr3:142718800-142723000	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr3:142719000-142722000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr3:142719000-142722200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr3:142719000-142722200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:142719000-142722200	Active TSS	HSMMtube	muscle
15	chr3:142719000-142722800	Active TSS	A549	lung
16	chr3:142719200-142722000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr3:142719200-142722000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:142719200-142722200	Active TSS	NHLF	lung
19	chr3:142719200-142723400	Active TSS	GM12878-XiMat	blood
20	chr3:142719400-142722000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr3:142719400-142722000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr3:142719400-142722000	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr3:142719400-142722000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr3:142719400-142722000	Active TSS	Fetal Intestine Large	intestine
25	chr3:142719400-142722200	Active TSS	Hela-S3	cervix
26	chr3:142719400-142722200	Active TSS	NHDF-Ad	bronchial
27	chr3:142719400-142722400	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr3:142719400-142722400	Active TSS	NHEK	skin
29	chr3:142719600-142722000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr3:142719600-142722000	Active TSS	Aorta	Aorta
31	chr3:142719600-142722000	Active TSS	Fetal Intestine Small	intestine
32	chr3:142719600-142722000	Active TSS	Fetal Stomach	stomach
33	chr3:142719600-142722000	Active TSS	Right Ventricle	heart
34	chr3:142719600-142722000	Active TSS	HSMM	muscle
35	chr3:142719600-142722200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr3:142719600-142722200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr3:142719600-142722200	Active TSS	Psoas Muscle	Psoas
38	chr3:142719600-142722200	Active TSS	NH-A	brain
39	chr3:142719600-142722400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:142719600-142722400	Active TSS	HMEC	breast
41	chr3:142719800-142722000	Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr3:142719800-142722000	Active TSS	Fetal Kidney	kidney
43	chr3:142719800-142722000	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr3:142719800-142722000	Active TSS	Small Intestine	intestine
45	chr3:142719800-142722200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr3:142720000-142722000	Active TSS	Fetal Muscle Leg	muscle
47	chr3:142720000-142722400	Active TSS	Fetal Thymus	thymus
48	chr3:142720800-142722000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
49	chr3:142720800-142722200	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr3:142720800-142722200	Active TSS	Brain Germinal Matrix	brain

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