Variant report

Variant	esv3373650
Chromosome Location	chr7:3308126-3312324
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	chr7:3283973..3284780-chr7:3307461..3308331,2	MCF-7	breast:

Extended variants
information (count: 207 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:207 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs530903571	chr7:3308141-3308142	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs144494788	chr7:3308160-3308161	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs564306538	chr7:3308171-3308172	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs560288879	chr7:3308183-3308184	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs533323604	chr7:3308189-3308190	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs6959074	chr7:3308195-3308196	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs567121371	chr7:3308197-3308198	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
8	rs139124558	chr7:3308200-3308201	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
9	rs186120273	chr7:3308204-3308205	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs190050939	chr7:3308216-3308217	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs143981766	chr7:3308298-3308299	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs368196210	chr7:3308300-3308301	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs557870662	chr7:3308332-3308333	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
14	rs577683396	chr7:3308338-3308339	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs6963073	chr7:3308351-3308352	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs553492237	chr7:3308352-3308353	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs57221572	chr7:3308359-3308360	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs542555218	chr7:3308360-3308361	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs6944576	chr7:3308363-3308364	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs146522743	chr7:3308369-3308370	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs113079048	chr7:3308370-3308371	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
22	rs564576667	chr7:3308371-3308372	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs533267575	chr7:3308390-3308391	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs550100055	chr7:3308428-3308429	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
25	rs546930313	chr7:3308432-3308433	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
26	rs568602832	chr7:3308433-3308434	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
27	rs142169541	chr7:3308450-3308451	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
28	rs532722095	chr7:3308481-3308482	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
29	rs374581721	chr7:3308494-3308495	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
30	rs554415545	chr7:3308496-3308497	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
31	rs529607940	chr7:3308497-3308498	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
32	rs549727251	chr7:3308503-3308504	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
33	rs548106499	chr7:3308528-3308529	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
34	rs569459970	chr7:3308533-3308534	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
35	rs183348222	chr7:3308538-3308539	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
36	rs572084146	chr7:3308580-3308581	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
37	rs551711898	chr7:3308585-3308586	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
38	rs571274787	chr7:3308600-3308601	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
39	rs533661130	chr7:3308614-3308615	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
40	rs55954852	chr7:3308631-3308632	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs573350076	chr7:3308679-3308680	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
42	rs536123898	chr7:3308683-3308684	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
43	rs80205186	chr7:3308710-3308711	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
44	rs185810094	chr7:3308719-3308720	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
45	rs151185611	chr7:3308770-3308771	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
46	rs79326480	chr7:3308793-3308794	Weak transcription Enhancers Bivalent Enhancer	n/a	n/a	Overlapped CNVs	n/a
47	rs564939068	chr7:3308818-3308819	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs578041143	chr7:3308894-3308895	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs557912449	chr7:3308906-3308907	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs140288961	chr7:3308907-3308908	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Chordoma	21602918	CNVD
Lynch syndrome	22585707	CNVD
Follicular lymphoma	20505157	CNVD
Breast cancer	16397240	CNVD
Raine Syndrome	17924334	CNVD
Diffuse large b-cell lymphoma	21266526	CNVD
Melanoma	18172304	CNVD
Sudden cardiac death	19188705	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	16573809	CNVD
Glioma	18556773	CNVD
Ovarian cancer	21720365	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Ovarian cancer	22174824	CNVD
Urothelial carcinoma	18382360	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Biliary cancer	19435499	CNVD
Cancer	16751803	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Wilms tumour	21544195	CNVD
Glioblastoma multiforme	17387387	CNVD
Astrocytoma	17387387	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	18923191	CNVD
Glioma	21971842	CNVD
Glioblastoma multiforme	21080181	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Oral cancer	21386901	CNVD
colon cancer	17210682	CNVD
Lung adenocarcinoma	21810691	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Colorectal cancer	19359472	CNVD
Hypothalamic hamartomas	18252217	CNVD
Human rectal carcinomas	16397240	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Medulloblastoma	18056178	CNVD
Basal cell lymphoma	17170743	CNVD
Ewing''s sarcoma	21437220	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Developmental delay	21147756	CNVD
Prostate cancer	18632612	CNVD
Urothelial carcinoma	21177765	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Thoracic aortic aneurysm	21092924	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Nasopharyngeal cancer	20548289	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Leukemia	23979775	CNVD
Spondylocostal dysostosis	21085971	CNVD
Mental retardation	17901693	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	22286061	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Cancer	20164920	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Pancreatic cancer	17952125	CNVD
Colorectal cancer	21645411	CNVD
Intellectual disability	21811512	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:3305400-3311000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr7:3306400-3309000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr7:3306800-3308400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:3307200-3308800	Enhancers	Fetal Muscle Leg	muscle
5	chr7:3307400-3308200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:3307400-3308200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:3307400-3308200	Enhancers	Fetal Stomach	stomach
8	chr7:3307400-3308200	Enhancers	Osteobl	bone
9	chr7:3307400-3308400	Enhancers	HSMMtube	muscle
10	chr7:3307400-3308400	Enhancers	NH-A	brain
11	chr7:3307400-3308400	Enhancers	NHDF-Ad	bronchial
12	chr7:3307400-3308400	Enhancers	NHLF	lung
13	chr7:3307400-3308800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:3307400-3308800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr7:3307600-3308200	Flanking Active TSS	A549	lung
16	chr7:3307600-3308600	Enhancers	Muscle Satellite Cultured Cells	--
17	chr7:3307800-3308200	Enhancers	Fetal Lung	lung
18	chr7:3307800-3308200	Enhancers	Fetal Thymus	thymus
19	chr7:3307800-3308400	Enhancers	Skeletal Muscle Female	skeletal muscle
20	chr7:3307800-3308400	Flanking Active TSS	HSMM	muscle
21	chr7:3307800-3312800	Weak transcription	Aorta	Aorta
22	chr7:3308000-3308200	Enhancers	Esophagus	oesophagus
23	chr7:3308000-3308200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr7:3308000-3308600	Enhancers	Fetal Muscle Trunk	muscle
25	chr7:3308200-3308800	Bivalent Enhancer	Fetal Stomach	stomach
26	chr7:3308200-3309000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:3308400-3311800	Weak transcription	NHLF	lung
28	chr7:3308400-3312200	Weak transcription	HSMM	muscle
29	chr7:3308400-3312200	Weak transcription	HSMMtube	muscle
30	chr7:3308600-3312000	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr7:3308600-3312600	Weak transcription	Fetal Muscle Trunk	muscle
32	chr7:3308800-3312000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr7:3308800-3312000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:3308800-3312000	Weak transcription	Fetal Muscle Leg	muscle
35	chr7:3309000-3311800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr7:3309000-3312000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:3311000-3311400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr7:3311400-3312600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:3311800-3313400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr7:3312000-3313000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:3312000-3313000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:3312000-3313200	Enhancers	Muscle Satellite Cultured Cells	--
43	chr7:3312000-3313200	Enhancers	NH-A	brain
44	chr7:3312000-3313400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:3312000-3313400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
46	chr7:3312000-3313400	Enhancers	Fetal Muscle Leg	muscle
47	chr7:3312000-3313400	Enhancers	NHDF-Ad	bronchial
48	chr7:3312000-3313400	Enhancers	NHLF	lung
49	chr7:3312200-3312800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:3312200-3313200	Enhancers	HSMM	muscle

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