Variant report

Variant	esv2760760
Chromosome Location	chr3:133014772-133025189
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	chr3:133001474..133003322-chr3:133021148..133022871,2	MCF-7	breast:
2	chr17:59476795..59478670-chr3:133018765..133021636,2	MCF-7	breast:

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

Extended variants
information (count: 395 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:395 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4854579	chr3:133014772-133014773	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs554910957	chr3:133014825-133014826	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs112476766	chr3:133014827-133014828	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs552677107	chr3:133014829-133014830	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs566137295	chr3:133014882-133014883	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs528685363	chr3:133014931-133014932	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140914871	chr3:133014966-133014967	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs80345998	chr3:133014987-133014988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150197585	chr3:133015021-133015022	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs115391061	chr3:133015048-133015049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs139112361	chr3:133015075-133015076	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537726983	chr3:133015132-133015133	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs79108024	chr3:133015235-133015236	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs557679596	chr3:133015270-133015271	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs538345755	chr3:133015289-133015290	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs577406787	chr3:133015311-133015312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs558667854	chr3:133015321-133015322	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs182432105	chr3:133015331-133015332	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs540842210	chr3:133015342-133015343	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs114747103	chr3:133015400-133015401	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs553954916	chr3:133015453-133015454	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs35356925	chr3:133015467-133015468	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs78343907	chr3:133015484-133015485	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs565973303	chr3:133015499-133015500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs376567871	chr3:133015501-133015502	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs376349651	chr3:133015518-133015519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs545929119	chr3:133015531-133015532	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs562039710	chr3:133015547-133015548	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs193103349	chr3:133015563-133015564	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs113047041	chr3:133015603-133015604	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs116006985	chr3:133015605-133015606	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs143140919	chr3:133015645-133015646	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs531216529	chr3:133015656-133015657	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs146980981	chr3:133015758-133015759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs138156717	chr3:133015770-133015771	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs149510546	chr3:133015775-133015776	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs551950447	chr3:133015800-133015801	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs116315746	chr3:133015819-133015820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs534439145	chr3:133015842-133015843	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs10428212	chr3:133015844-133015845	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs574330212	chr3:133015859-133015860	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs536942684	chr3:133015903-133015904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs10512895	chr3:133015904-133015905	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs183562471	chr3:133015905-133015906	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs577120017	chr3:133015915-133015916	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs144099560	chr3:133015966-133015967	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs148694175	chr3:133015969-133015970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573355835	chr3:133015982-133015983	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188442053	chr3:133016000-133016001	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs542379066	chr3:133016018-133016019	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Non-syndromic sensorineural hearing loss	18451855	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:131 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133003400-133015400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:133009800-133015400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr3:133010400-133016600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr3:133010800-133015400	Enhancers	HUVEC	blood vessel
5	chr3:133012200-133015000	Enhancers	HSMM	muscle
6	chr3:133012200-133015400	Enhancers	Osteobl	bone
7	chr3:133012400-133014800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:133012400-133015400	Weak transcription	Right Ventricle	heart
9	chr3:133012400-133015600	Enhancers	NH-A	brain
10	chr3:133012600-133014800	Weak transcription	Fetal Heart	heart
11	chr3:133012600-133015400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr3:133012800-133015400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr3:133013000-133015400	Weak transcription	Fetal Brain Female	brain
14	chr3:133013400-133014800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:133013400-133014800	Enhancers	NHEK	skin
16	chr3:133013600-133014800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr3:133013600-133016400	Enhancers	Fetal Lung	lung
18	chr3:133014000-133014800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr3:133014000-133015000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:133014000-133015600	Enhancers	Left Ventricle	heart
21	chr3:133014000-133015600	Enhancers	Right Atrium	heart
22	chr3:133014000-133015800	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr3:133014000-133016000	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr3:133014000-133016200	Enhancers	HSMMtube	muscle
25	chr3:133014000-133017000	Enhancers	Ovary	ovary
26	chr3:133014200-133014800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr3:133014200-133014800	Enhancers	Skeletal Muscle Female	skeletal muscle
28	chr3:133014200-133014800	Enhancers	GM12878-XiMat	blood
29	chr3:133014200-133015000	Enhancers	Psoas Muscle	Psoas
30	chr3:133014200-133015400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:133014200-133016600	Enhancers	Brain Germinal Matrix	brain
32	chr3:133014200-133016600	Enhancers	Fetal Muscle Leg	muscle
33	chr3:133014400-133014800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr3:133014400-133014800	Enhancers	Esophagus	oesophagus
35	chr3:133014400-133015400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr3:133014400-133015600	Enhancers	Adipose Nuclei	Adipose
37	chr3:133014400-133017000	Enhancers	Fetal Brain Male	brain
38	chr3:133014600-133014800	Enhancers	Fetal Stomach	stomach
39	chr3:133014600-133014800	Enhancers	Rectal Smooth Muscle	rectum
40	chr3:133014600-133015000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
41	chr3:133014600-133015600	Weak transcription	HMEC	breast
42	chr3:133014600-133019000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr3:133014800-133015200	Weak transcription	Fetal Stomach	stomach
44	chr3:133014800-133015200	Weak transcription	Rectal Smooth Muscle	rectum
45	chr3:133014800-133015200	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr3:133014800-133015400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr3:133014800-133015800	Enhancers	Muscle Satellite Cultured Cells	--
48	chr3:133014800-133016400	Enhancers	Fetal Heart	heart
49	chr3:133014800-133019800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr3:133014800-133019800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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