Variant report

Variant	esv2265170
Chromosome Location	chr3:145942097-145942466
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	FOS	chr3:145940041-145942138	HUVEC	blood vessel:	n/a	chr3:145941406-145941418 chr3:145941382-145941392 chr3:145941407-145941417 chr3:145941384-145941391 chr3:145941382-145941391 chr3:145941381-145941393 chr3:145941381-145941392 chr3:145941383-145941392 chr3:145941407-145941417 chr3:145941382-145941392
2	GATA2	chr3:145941769-145942185	HUVEC	blood vessel:	n/a	n/a
3	HEY1	chr3:145942383-145942583	K562	blood:	n/a	n/a
4	HEY1	chr3:145942370-145942586	HepG2	liver:	n/a	n/a
5	HEY1	chr3:145942400-145942652	HepG2	liver:	n/a	n/a
6	NFYB	chr3:145942387-145942631	K562	blood:	n/a	n/a
7	POLR2A	chr3:145941778-145942284	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr3:145942364-145942531	H1-hESC	embryonic stem cell:	n/a	n/a
9	SP1	chr3:145942332-145942618	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
PLSCR4	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:35 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534038963	chr3:145942099-145942100	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
2	rs558491372	chr3:145942116-145942117	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs570534818	chr3:145942121-145942122	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs9814972	chr3:145942123-145942124	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs79394833	chr3:145942124-145942125	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs76140248	chr3:145942125-145942126	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs144658283	chr3:145942133-145942134	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs554011695	chr3:145942186-145942187	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs148510435	chr3:145942191-145942192	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs9870686	chr3:145942200-145942201	Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs146634489	chr3:145942205-145942206	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs531232658	chr3:145942216-145942217	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs544872510	chr3:145942230-145942231	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs9870699	chr3:145942231-145942232	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs530428064	chr3:145942247-145942248	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs186939856	chr3:145942251-145942252	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs9870547	chr3:145942256-145942257	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs527754553	chr3:145942298-145942299	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs60225679	chr3:145942321-145942322	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs59588061	chr3:145942329-145942330	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs191404725	chr3:145942330-145942331	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs61634701	chr3:145942333-145942334	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs537894085	chr3:145942342-145942343	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs56034521	chr3:145942348-145942349	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs568215808	chr3:145942351-145942352	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs535748419	chr3:145942355-145942356	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs57108549	chr3:145942356-145942357	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs13086396	chr3:145942359-145942360	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs539514970	chr3:145942383-145942384	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs13086427	chr3:145942402-145942403	Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs575979588	chr3:145942414-145942415	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs138357475	chr3:145942422-145942423	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs370166625	chr3:145942433-145942434	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs567713190	chr3:145942440-145942441	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs188292870	chr3:145942457-145942458	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
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
Basal cell lymphoma	21115979	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	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
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Autism	18923514	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Autism	21956041	CNVD
Ovarian clear cell carcinoma	19293255	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:145924400-145944000	Weak transcription	Colon Smooth Muscle	Colon
2	chr3:145924400-145945200	Weak transcription	HSMMtube	muscle
3	chr3:145925000-145945600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr3:145925400-145952800	Weak transcription	Primary hematopoietic stem cells	blood
5	chr3:145925600-145950800	Weak transcription	Fetal Kidney	kidney
6	chr3:145932600-145943800	Weak transcription	Brain Hippocampus Middle	brain
7	chr3:145934600-145952200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:145936000-145945200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr3:145940600-145943600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr3:145940600-145944800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:145940600-145953000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr3:145940600-145953600	Weak transcription	NHDF-Ad	bronchial
13	chr3:145940800-145943200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr3:145940800-145944000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr3:145940800-145944000	Weak transcription	Stomach Smooth Muscle	stomach
16	chr3:145940800-145944400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr3:145940800-145944400	Weak transcription	Fetal Stomach	stomach
18	chr3:145940800-145945000	Weak transcription	Aorta	Aorta
19	chr3:145940800-145945000	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr3:145940800-145945200	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr3:145940800-145945200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr3:145941000-145942200	Enhancers	HUVEC	blood vessel
23	chr3:145941200-145942200	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr3:145941400-145944800	Weak transcription	Adipose Nuclei	Adipose
25	chr3:145941400-145944800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr3:145941400-145945000	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr3:145941400-145945800	Weak transcription	NHLF	lung
28	chr3:145941400-145948400	Weak transcription	Osteobl	bone
29	chr3:145941600-145943400	Weak transcription	Lung	lung
30	chr3:145941600-145945000	Weak transcription	Ovary	ovary
31	chr3:145941600-145945000	Weak transcription	Pancreas	Pancrea
32	chr3:145941600-145946000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr3:145941600-145947000	Weak transcription	Right Atrium	heart
34	chr3:145941600-145952200	Weak transcription	Left Ventricle	heart
35	chr3:145941600-145952600	Weak transcription	Fetal Intestine Small	intestine
36	chr3:145941600-145954000	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr3:145941800-145942200	Strong transcription	Fetal Lung	lung
38	chr3:145941800-145942200	Flanking Active TSS	A549	lung
39	chr3:145941800-145942400	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr3:145942000-145944800	Weak transcription	Liver	Liver
41	chr3:145942000-145947000	Weak transcription	Fetal Intestine Large	intestine
42	chr3:145942200-145943800	Weak transcription	Fetal Lung	lung
43	chr3:145942200-145946800	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr3:145942200-145953400	Weak transcription	HUVEC	blood vessel

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