Variant report

Variant	esv995627
Chromosome Location	chr3:20424694-20434341
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	CTCF	chr3:20425961-20426058	Spleen_OC	spleen:	n/a	n/a
2	FOS	chr3:20427130-20427287	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr3:20432020-20432163	MCF10A-Er-Src	breast:	n/a	n/a
4	STAT3	chr3:20430502-20430560	MCF10A-Er-Src	breast:	n/a	n/a
5	STAT3	chr3:20433847-20434004	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr3:20432677-20432847	MCF10A-Er-Src	breast:	n/a	n/a
7	ZNF143	chr3:20426088-20426093	H1-hESC	embryonic stem cell:	n/a	n/a

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KAT2B-3	chr3:20429741-20432054	ENSG00000261734.1

Variant related genes	Relation type
ENSG00000261734	TF binding region

Extended variants
information (count: 330 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:330 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs62241800	chr3:20424702-20424703	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs183195614	chr3:20424730-20424731	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs7614624	chr3:20424736-20424737	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs111871286	chr3:20424747-20424748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558415644	chr3:20424757-20424758	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs191705637	chr3:20424767-20424768	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs184206351	chr3:20424784-20424785	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs371316429	chr3:20424785-20424786	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs187514840	chr3:20424815-20424816	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs574436755	chr3:20424820-20424821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs375937881	chr3:20424845-20424846	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs571941129	chr3:20424876-20424877	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs7614794	chr3:20424881-20424882	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs193251791	chr3:20424924-20424925	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs567077344	chr3:20426027-20426028	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs534356084	chr3:20426031-20426032	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs77117421	chr3:20426039-20426040	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs568186566	chr3:20426050-20426051	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs371066590	chr3:20426808-20426809	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs182284936	chr3:20426825-20426826	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs568852697	chr3:20426828-20426829	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs80116324	chr3:20426846-20426847	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs147951225	chr3:20426847-20426848	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs79044183	chr3:20426848-20426849	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs574541300	chr3:20426857-20426858	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs187332884	chr3:20426947-20426948	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs543935051	chr3:20426948-20426949	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs77749922	chr3:20426956-20426957	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs192397516	chr3:20427003-20427004	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
30	rs140120348	chr3:20427007-20427008	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs562806082	chr3:20427095-20427096	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs546241412	chr3:20427135-20427136	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs533384769	chr3:20427136-20427137	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs545444011	chr3:20427153-20427154	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs560485756	chr3:20427155-20427156	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs528030603	chr3:20427191-20427192	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs113253326	chr3:20427198-20427199	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs182062153	chr3:20427281-20427282	ZNF genes & repeats	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs186691959	chr3:20427310-20427311	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs531779338	chr3:20427314-20427315	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs550676413	chr3:20427359-20427360	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs528785326	chr3:20427378-20427379	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs190077526	chr3:20427380-20427381	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs182704930	chr3:20427394-20427395	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs551002657	chr3:20427416-20427417	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs115760643	chr3:20427491-20427492	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs533839298	chr3:20427504-20427505	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs542157585	chr3:20427539-20427540	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs200115749	chr3:20427568-20427569	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs71038678	chr3:20427592-20427593	ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

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
Developmental delay	21147756	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Bipolar disorder	19114987	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:20423400-20424800	Enhancers	Fetal Intestine Large	intestine
2	chr3:20423400-20425000	Enhancers	Fetal Intestine Small	intestine
3	chr3:20426800-20427600	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
4	chr3:20427600-20433200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:20433000-20433400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr3:20433000-20433600	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr3:20433200-20433400	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr3:20433200-20433600	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr3:20433400-20435800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr3:20433600-20435800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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