Variant report

Variant	esv3358398
Chromosome Location	chr3:157030558-157035856
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:157022820..157026060-chr3:157027403..157031164,3	K562	blood:
2	chr3:157034317..157036737-chr3:157259536..157261950,2	MCF-7	breast:
3	chr3:157027546..157030155-chr3:157033829..157035547,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LEKR1-4	chr3:157033600-157033684	ENSG00000243176.1
2	lnc-LEKR1-4	chr3:157033600-157033934	ENSG00000243176.1

Variant related genes	Relation type
ENSG00000174899	chromatin interactions

Extended variants
information (count: 170 )
Associated
traits (count: 51 )

Variant overlapped rSNPs/rCNVs (count:170 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146721223	chr3:157030607-157030608	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs374879246	chr3:157030614-157030615	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs10711048	chr3:157030679-157030680	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs202031834	chr3:157030687-157030688	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs200035580	chr3:157030688-157030689	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs200772380	chr3:157030689-157030690	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs552982216	chr3:157030693-157030694	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs140277345	chr3:157030708-157030709	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553891586	chr3:157030712-157030713	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs574864982	chr3:157030785-157030786	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs201901518	chr3:157030794-157030795	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs542003955	chr3:157030822-157030823	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs563857476	chr3:157030827-157030828	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs575758173	chr3:157030865-157030866	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs572193510	chr3:157030894-157030895	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs564793294	chr3:157030910-157030911	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs528824495	chr3:157030912-157030913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs546605368	chr3:157030914-157030915	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561572374	chr3:157030920-157030921	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs367666166	chr3:157030957-157030958	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs386667421	chr3:157030973-157030974	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs550410244	chr3:157030974-157030975	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs568996796	chr3:157030989-157030990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs569271901	chr3:157030997-157030998	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs182184265	chr3:157031008-157031009	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs548118197	chr3:157031060-157031061	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs551187284	chr3:157031107-157031108	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs374831244	chr3:157031236-157031237	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs145320902	chr3:157031258-157031259	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs533872549	chr3:157031285-157031286	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs553327272	chr3:157031286-157031287	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs113999863	chr3:157031290-157031291	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs535902554	chr3:157031311-157031312	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs34067114	chr3:157031337-157031338	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs201853660	chr3:157031465-157031466	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs369950845	chr3:157031526-157031527	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557190382	chr3:157031539-157031540	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200045514	chr3:157031552-157031553	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs575767035	chr3:157031572-157031573	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs185782381	chr3:157031576-157031577	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs189074613	chr3:157031679-157031680	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs573570750	chr3:157031703-157031704	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs367845486	chr3:157031706-157031707	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181168281	chr3:157031746-157031747	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs372581420	chr3:157031821-157031822	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs562360506	chr3:157031834-157031835	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs185662782	chr3:157031845-157031846	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs376226592	chr3:157031846-157031847	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs550619424	chr3:157031868-157031869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs562420100	chr3:157031918-157031919	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:51)

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
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157013000-157032600	Weak transcription	NH-A	brain
2	chr3:157015600-157048400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr3:157021800-157035400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr3:157028000-157030600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:157028200-157030600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr3:157028200-157030800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr3:157028400-157030600	Enhancers	Hela-S3	cervix
8	chr3:157029000-157030600	Enhancers	NHLF	lung
9	chr3:157029000-157030800	Weak transcription	HUVEC	blood vessel
10	chr3:157029200-157030600	Enhancers	Osteobl	bone
11	chr3:157029200-157031400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:157029800-157030600	Enhancers	NHDF-Ad	bronchial
13	chr3:157030400-157030600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr3:157030400-157030600	Enhancers	Muscle Satellite Cultured Cells	--
15	chr3:157030400-157032600	Weak transcription	HSMM	muscle
16	chr3:157030400-157036200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr3:157030600-157031400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr3:157030600-157035400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr3:157030600-157035400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr3:157030600-157035400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr3:157030600-157035400	Weak transcription	NHDF-Ad	bronchial
22	chr3:157030600-157035400	Weak transcription	NHLF	lung
23	chr3:157030600-157047000	Weak transcription	Osteobl	bone
24	chr3:157030800-157031200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr3:157030800-157031800	Strong transcription	HUVEC	blood vessel
26	chr3:157031200-157031400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr3:157031400-157031600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:157031400-157031800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr3:157031400-157037400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr3:157031800-157035600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr3:157031800-157039200	Weak transcription	HUVEC	blood vessel
32	chr3:157035400-157036000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr3:157035400-157036000	Enhancers	Muscle Satellite Cultured Cells	--
34	chr3:157035400-157036000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr3:157035400-157036000	Enhancers	NHDF-Ad	bronchial
36	chr3:157035400-157036000	Enhancers	NHLF	lung
37	chr3:157035400-157036200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:157035400-157036800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr3:157035400-157036800	Enhancers	A549	lung
40	chr3:157035600-157036800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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