Variant report

Variant	esv2757011
Chromosome Location	chr3:133020950-133032892
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	chr17:59476795..59478670-chr3:133018765..133021636,2	MCF-7	breast:
2	chr3:133001474..133003322-chr3:133021148..133022871,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267280	chromatin interactions
ENSG00000121068	chromatin interactions
ENSG00000267131	chromatin interactions

Extended variants
information (count: 515 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:515 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs16840202	chr3:133020950-133020951	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs4600815	chr3:133020968-133020969	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs570100815	chr3:133020970-133020971	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs185536498	chr3:133020973-133020974	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs148642376	chr3:133021038-133021039	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs566397602	chr3:133021053-133021054	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs6792283	chr3:133021063-133021064	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs553786780	chr3:133021068-133021069	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs6792361	chr3:133021115-133021116	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs1708367	chr3:133021116-133021117	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs567505222	chr3:133021117-133021118	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs530035766	chr3:133021123-133021124	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs556228368	chr3:133021127-133021128	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs573670029	chr3:133021128-133021129	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs576116241	chr3:133021138-133021139	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs373685145	chr3:133021141-133021142	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs538845473	chr3:133021166-133021167	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs558404628	chr3:133021167-133021168	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs571990136	chr3:133021177-133021178	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs540963019	chr3:133021202-133021203	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs201713174	chr3:133021261-133021262	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs201317998	chr3:133021262-133021263	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs28568827	chr3:133021263-133021264	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs112560820	chr3:133021267-133021268	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs560941721	chr3:133021303-133021304	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs538491137	chr3:133021304-133021305	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs142908705	chr3:133021313-133021314	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs150674742	chr3:133021358-133021359	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs1616304	chr3:133021359-133021360	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs532568929	chr3:133021382-133021383	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs552782704	chr3:133021392-133021393	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs560022191	chr3:133021414-133021415	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs546741524	chr3:133021427-133021428	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs538324016	chr3:133021463-133021464	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs112603418	chr3:133021466-133021467	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs184556534	chr3:133021506-133021507	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs536254893	chr3:133021510-133021511	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs549577696	chr3:133021511-133021512	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
39	rs569757270	chr3:133021515-133021516	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs538386307	chr3:133021516-133021517	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs373078432	chr3:133021524-133021525	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
42	rs571951708	chr3:133021532-133021533	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
43	rs534556752	chr3:133021559-133021560	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
44	rs67607639	chr3:133021560-133021561	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs574705678	chr3:133021620-133021621	Enhancers Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
46	rs571542341	chr3:133021666-133021667	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs543818866	chr3:133021681-133021682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs77529601	chr3:133021695-133021696	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs577252509	chr3:133021740-133021741	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs188578449	chr3:133021748-133021749	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

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
Cancer	21129771	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
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	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
Hailey-hailey disease	17597066	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133016400-133038200	Weak transcription	Fetal Lung	lung
2	chr3:133018200-133021000	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr3:133019000-133024400	Weak transcription	Brain Germinal Matrix	brain
4	chr3:133019200-133022400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr3:133019600-133021000	Enhancers	Osteobl	bone
6	chr3:133019800-133021000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:133019800-133021000	Enhancers	HSMM	muscle
8	chr3:133020000-133021000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr3:133020000-133021000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr3:133020200-133021000	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr3:133020200-133021000	Enhancers	HMEC	breast
12	chr3:133020200-133021000	Flanking Active TSS	HUVEC	blood vessel
13	chr3:133020400-133021000	Flanking Active TSS	NH-A	brain
14	chr3:133020600-133021200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr3:133020800-133021200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:133020800-133021200	Enhancers	Fetal Brain Male	brain
17	chr3:133020800-133022800	Enhancers	Muscle Satellite Cultured Cells	--
18	chr3:133021000-133021200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr3:133021000-133022200	Weak transcription	Osteobl	bone
20	chr3:133021000-133023000	Enhancers	NH-A	brain
21	chr3:133021000-133023400	Enhancers	HUVEC	blood vessel
22	chr3:133021000-133031800	Weak transcription	HSMM	muscle
23	chr3:133021000-133037600	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr3:133022200-133022400	Enhancers	Osteobl	bone

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