Variant report

Variant	esv2564720
Chromosome Location	chr3:142346329-142347704
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142344136..142346877-chr3:142364474..142366213,2	K562	blood:
2	chr3:142340189..142342403-chr3:142344376..142347027,3	K562	blood:

Variant related genes	Relation type
ENSG00000120756	chromatin interactions

Extended variants
information (count: 57 )
Associated
traits (count: 52 )

Variant overlapped rSNPs/rCNVs (count:57 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs532016260	chr3:142346352-142346353	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs551215372	chr3:142346353-142346354	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs375816000	chr3:142346370-142346371	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs569441830	chr3:142346406-142346407	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs537002689	chr3:142346419-142346420	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs373091546	chr3:142346444-142346445	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs548780366	chr3:142346479-142346480	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs370368574	chr3:142346504-142346505	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs567107147	chr3:142346522-142346523	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs534253504	chr3:142346535-142346536	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs539071476	chr3:142346548-142346549	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs13075800	chr3:142346554-142346555	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs577126433	chr3:142346558-142346559	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs537840502	chr3:142346572-142346573	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs5853077	chr3:142346639-142346640	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs191681923	chr3:142346748-142346749	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs1916639	chr3:142346764-142346765	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs542942417	chr3:142346765-142346766	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs113396792	chr3:142346800-142346801	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs560714158	chr3:142346828-142346829	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs572721616	chr3:142346833-142346834	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372511876	chr3:142346864-142346865	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs375768031	chr3:142346908-142346909	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs183731609	chr3:142346912-142346913	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs550303806	chr3:142346921-142346922	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs543026325	chr3:142346926-142346927	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs77747978	chr3:142346951-142346952	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs530314908	chr3:142347013-142347014	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs373497062	chr3:142347045-142347046	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs144919763	chr3:142347046-142347047	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368487412	chr3:142347062-142347063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs188208797	chr3:142347090-142347091	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs73864563	chr3:142347109-142347110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs11273998	chr3:142347178-142347179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs552842230	chr3:142347186-142347187	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs6804298	chr3:142347207-142347208	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs6779917	chr3:142347208-142347209	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs368435806	chr3:142347211-142347212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs76168517	chr3:142347216-142347217	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs75997903	chr3:142347217-142347218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs62278464	chr3:142347221-142347222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs76936053	chr3:142347227-142347228	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs148867740	chr3:142347233-142347234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs536112229	chr3:142347255-142347256	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs554445576	chr3:142347267-142347268	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs371630304	chr3:142347313-142347314	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185548345	chr3:142347358-142347359	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs112293947	chr3:142347376-142347377	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs372906945	chr3:142347402-142347403	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188314451	chr3:142347466-142347467	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:52)

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
Breast cancer	22522925	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142334000-142357200	Weak transcription	Pancreas	Pancrea
2	chr3:142337800-142348400	Weak transcription	Gastric	stomach
3	chr3:142343400-142348600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr3:142343400-142366400	Weak transcription	Fetal Intestine Small	intestine
5	chr3:142344800-142346600	Enhancers	K562	blood
6	chr3:142345200-142353800	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr3:142345800-142346600	Enhancers	Rectal Mucosa Donor 31	rectum
8	chr3:142346000-142347000	Weak transcription	Stomach Mucosa	stomach
9	chr3:142346200-142347600	Weak transcription	HepG2	liver
10	chr3:142346200-142354800	Weak transcription	A549	lung
11	chr3:142346600-142351600	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr3:142347600-142347800	Enhancers	Stomach Mucosa	stomach
13	chr3:142347600-142347800	Enhancers	HepG2	liver

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