Variant report

Variant	nsv526739
Chromosome Location	chr3:23521204-23522217
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	chr3:23521010-23521515	HEK293	kidney:	n/a	n/a
2	POLR2A	chr3:23521515-23521521	A549	lung:	n/a	n/a
3	POLR2A	chr3:23521524-23521641	A549	lung:	n/a	n/a
4	RFX5	chr3:23521360-23521432	HepG2	liver:	n/a	n/a
5	SETDB1	chr3:23521074-23521639	U2OS	brain:	n/a	n/a
6	ZNF143	chr3:23521865-23522060	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000265645	TF binding region

Extended variants
information (count: 54 )
Associated
traits (count: 74 )

Variant overlapped rSNPs/rCNVs (count:54 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9862734	chr3:23521204-23521205	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs571849417	chr3:23521225-23521226	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539270379	chr3:23521235-23521236	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs547740092	chr3:23521251-23521252	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs554163096	chr3:23521263-23521264	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs572708662	chr3:23521305-23521306	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs542609805	chr3:23521324-23521325	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs373002974	chr3:23521336-23521337	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs567729173	chr3:23521372-23521373	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs554566313	chr3:23521415-23521416	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs576096004	chr3:23521498-23521499	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs73043635	chr3:23521532-23521533	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs565065290	chr3:23521533-23521534	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs532203704	chr3:23521564-23521565	Strong transcription Weak transcription ZNF genes & repeats Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs139646064	chr3:23521613-23521614	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs73043636	chr3:23521614-23521615	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs530004918	chr3:23521625-23521626	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs570196076	chr3:23521630-23521631	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
19	rs547847303	chr3:23521634-23521635	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs117824143	chr3:23521640-23521641	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs143463950	chr3:23521647-23521648	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs552299081	chr3:23521648-23521649	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs1695197	chr3:23521650-23521651	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs545306703	chr3:23521697-23521698	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs547976233	chr3:23521742-23521743	Enhancers Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs566216988	chr3:23521827-23521828	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs1692650	chr3:23521847-23521848	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
28	rs554878991	chr3:23521865-23521866	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs73043637	chr3:23521867-23521868	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs537091723	chr3:23521956-23521957	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs558614498	chr3:23521961-23521962	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs577274521	chr3:23521962-23521963	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs377200633	chr3:23521979-23521980	Enhancers Weak transcription ZNF genes & repeats Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs1695192	chr3:23522003-23522004	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs559520419	chr3:23522007-23522008	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs146798543	chr3:23522035-23522036	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs115587185	chr3:23522043-23522044	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs530511308	chr3:23522049-23522050	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs552211683	chr3:23522057-23522058	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs140504846	chr3:23522075-23522076	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs528213751	chr3:23522091-23522092	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs547642977	chr3:23522100-23522101	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs566249872	chr3:23522105-23522106	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs58341793	chr3:23522116-23522117	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs34377610	chr3:23522122-23522123	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs201198495	chr3:23522136-23522137	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs376513405	chr3:23522137-23522138	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs370681483	chr3:23522138-23522139	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs536472693	chr3:23522144-23522145	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs548467924	chr3:23522151-23522152	Enhancers Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:74)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	17603634	CNVD
Neuroblastoma	17327916	CNVD
Glioblastoma multiforme	21080181	CNVD
Neuroblastoma	18923191	CNVD
Colorectal cancer	21297112	CNVD
Lynch syndrome	18415027	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	20729466	CNVD
Urothelial carcinoma	18382360	CNVD
Melanoma	18172304	CNVD
Cervical cancer	21062161	CNVD
Hirschsprung''s Disease	21712996	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Insulin resistance	16721378	CNVD
Neuroblastoma	18664255	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Multiple myeloma	17077331	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	21484798	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Oral cancer	19627613	CNVD
Renal cell carcinoma	19461508	CNVD
Epithelial cancer	22065749	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Acute myeloid leukemia	16864856	CNVD
Liposarcoma	21253554	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Pancreatic endocrine tumor	20981439	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	17387387	CNVD
Oral cancer	21386901	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Retinoblastoma	21504564	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
lymphocytic leukemia	21291569	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Renal cell carcinoma	21668985	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Intellectual disability	22102821	CNVD
Esophageal cancer	20955586	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Myelofibrosis	22110671	CNVD
Gastric adenocarcinoma	19115996	CNVD
Squamous cell cancer	20885788	CNVD
Esophageal squamous carcinoma	17470683	CNVD
Breast cancer	17133270	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Melanoma	20688739	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:23512000-23523000	Weak transcription	Psoas Muscle	Psoas
2	chr3:23512000-23527400	Weak transcription	Left Ventricle	heart
3	chr3:23513400-23522800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:23513800-23527400	Weak transcription	Right Atrium	heart
5	chr3:23517000-23522000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr3:23517400-23521800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr3:23518800-23522000	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
8	chr3:23519400-23522200	ZNF genes & repeats	Primary B cells from cord blood	blood
9	chr3:23520400-23521800	ZNF genes & repeats	Thymus	Thymus
10	chr3:23520400-23522200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
11	chr3:23520400-23522200	ZNF genes & repeats	Fetal Thymus	thymus
12	chr3:23520600-23521400	Enhancers	Esophagus	oesophagus
13	chr3:23520600-23521600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr3:23520600-23521800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr3:23520600-23521800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr3:23520600-23521800	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr3:23520600-23521800	ZNF genes & repeats	Spleen	Spleen
18	chr3:23520600-23522000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr3:23520600-23522000	ZNF genes & repeats	Lung	lung
20	chr3:23520600-23522200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:23520600-23522200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr3:23520600-23522200	ZNF genes & repeats	Fetal Muscle Trunk	muscle
23	chr3:23520600-23522200	ZNF genes & repeats	GM12878-XiMat	blood
24	chr3:23520800-23521400	ZNF genes & repeats	Fetal Lung	lung
25	chr3:23520800-23522000	ZNF genes & repeats	Fetal Muscle Leg	muscle
26	chr3:23520800-23522000	ZNF genes & repeats	Pancreas	Pancrea
27	chr3:23521000-23521400	ZNF genes & repeats	Fetal Kidney	kidney
28	chr3:23521000-23521600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr3:23521000-23521600	Weak transcription	Brain Angular Gyrus	brain
30	chr3:23521000-23521800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr3:23521000-23522000	Weak transcription	Primary T cells from cord blood	blood
32	chr3:23521000-23522000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
33	chr3:23521000-23522800	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr3:23521000-23527600	Weak transcription	Right Ventricle	heart
35	chr3:23521000-23531800	Weak transcription	NHDF-Ad	bronchial
36	chr3:23521200-23521400	ZNF genes & repeats	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr3:23521200-23521600	Enhancers	Stomach Smooth Muscle	stomach
38	chr3:23521200-23521800	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
39	chr3:23521200-23522000	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr3:23521200-23522000	ZNF genes & repeats	HSMMtube	muscle
41	chr3:23521200-23522200	Enhancers	Brain Hippocampus Middle	brain
42	chr3:23521200-23522200	Enhancers	Brain Substantia Nigra	brain
43	chr3:23521200-23523000	Enhancers	Brain Cingulate Gyrus	brain
44	chr3:23521200-23527600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr3:23521400-23521800	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
46	chr3:23521400-23522000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr3:23521400-23522600	Weak transcription	Fetal Kidney	kidney
48	chr3:23521400-23522600	Weak transcription	Fetal Lung	lung
49	chr3:23521400-23523400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:23521600-23521800	Enhancers	Brain Angular Gyrus	brain

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