Variant report

Variant	esv3344922
Chromosome Location	chr3:157917793-157918238
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	KAP1	chr3:157918235-157919649	K562	blood:	n/a	n/a
2	POLR2A	chr3:157917771-157917971	K562	blood:	n/a	n/a
3	SETDB1	chr3:157918189-157919558	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:157907378..157909218-chr3:157917201..157920072,2	K562	blood:

Variant related genes	Relation type
RSRC1	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 50 )

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs73027921	chr3:157917816-157917817	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs191736107	chr3:157917829-157917830	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
3	rs181443804	chr3:157917830-157917831	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
4	rs2682397	chr3:157917834-157917835	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs547546528	chr3:157917849-157917850	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
6	rs566176949	chr3:157917857-157917858	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
7	rs150796274	chr3:157917887-157917888	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
8	rs79990961	chr3:157917913-157917914	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	mRNA abundance
9	rs1193515	chr3:157917973-157917974	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	mRNA abundance
10	rs144001324	chr3:157917976-157917977	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs186350998	chr3:157917981-157917982	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs570988609	chr3:157917990-157917991	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs564300256	chr3:157917999-157918000	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs552759797	chr3:157918002-157918003	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs539845856	chr3:157918038-157918039	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs374201015	chr3:157918043-157918044	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs368526900	chr3:157918048-157918049	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs557034506	chr3:157918051-157918052	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs370985703	chr3:157918062-157918063	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs35146312	chr3:157918071-157918072	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs575593808	chr3:157918075-157918076	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs190803957	chr3:157918095-157918096	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs564587586	chr3:157918106-157918107	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs140513382	chr3:157918107-157918108	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs564426694	chr3:157918159-157918160	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs528236032	chr3:157918172-157918173	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs371664852	chr3:157918178-157918179	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs144254947	chr3:157918214-157918215	Weak transcription ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:50)

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
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
head and neck squamous cell carcinoma	17671120	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Basal cell lymphoma	17170743	CNVD
Breast cancer	16608533	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	20729466	CNVD
Non-small cell lung cancer	19010865	CNVD
abnormal development	18461090	CNVD
Prostate cancer	18632612	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	16547154	CNVD
Neurodevelopmental disorder	22521361	CNVD
Breast cancer	21364760	CNVD
Gastrointestinal stromal cancer	20818650	CNVD

Chromatin state (count:8 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157889800-157918600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr3:157914200-157984400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr3:157914800-157921200	Weak transcription	Pancreas	Pancrea
4	chr3:157916000-157918800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:157916400-157919200	ZNF genes & repeats	Dnd41	blood
6	chr3:157917000-157926200	Weak transcription	Ovary	ovary
7	chr3:157918000-157938000	Weak transcription	Left Ventricle	heart
8	chr3:157918200-157920600	Weak transcription	Hela-S3	cervix

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