Variant report

Variant	esv3392392
Chromosome Location	chr7:107666383-107667717
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:70136458..70137142-chr7:107666196..107666815,2	MCF-7	breast:
2	chr7:107665219..107667481-chr7:107746452..107749075,2	K562	blood:
3	chr7:107662423..107664727-chr7:107664864..107667765,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:62 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs569335304	chr7:107666467-107666468	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184361894	chr7:107666502-107666503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs558318897	chr7:107666578-107666579	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs578233467	chr7:107666582-107666583	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs139314922	chr7:107666638-107666639	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs13241560	chr7:107666654-107666655	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs554526403	chr7:107666674-107666675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs1732162	chr7:107666675-107666676	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs76591245	chr7:107666693-107666694	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs116160592	chr7:107666702-107666703	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs1732161	chr7:107666730-107666731	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs571210876	chr7:107666735-107666736	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs544816628	chr7:107666753-107666754	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs565077296	chr7:107666766-107666767	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs527513160	chr7:107666774-107666775	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs547263435	chr7:107666801-107666802	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs188770007	chr7:107666819-107666820	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs1732160	chr7:107666857-107666858	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs200900182	chr7:107666860-107666861	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs1732159	chr7:107666864-107666865	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs181148624	chr7:107666871-107666872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs144562872	chr7:107666884-107666885	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs184629136	chr7:107666897-107666898	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs571841097	chr7:107666899-107666900	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs1636951	chr7:107666926-107666927	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs554464851	chr7:107666953-107666954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs568711356	chr7:107667001-107667002	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs376968382	chr7:107667030-107667031	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs536133691	chr7:107667031-107667032	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs574390265	chr7:107667085-107667086	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs536590947	chr7:107667103-107667104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs148477156	chr7:107667104-107667105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs371482452	chr7:107667129-107667130	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs556069514	chr7:107667133-107667134	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs545068394	chr7:107667142-107667143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs564662254	chr7:107667184-107667185	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs114375582	chr7:107667191-107667192	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs540828204	chr7:107667194-107667195	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs560793300	chr7:107667198-107667199	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs529988924	chr7:107667202-107667203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs1732158	chr7:107667270-107667271	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs1636952	chr7:107667272-107667273	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs562878723	chr7:107667335-107667336	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs531629951	chr7:107667341-107667342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs189096697	chr7:107667361-107667362	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs182547927	chr7:107667385-107667386	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs115878459	chr7:107667447-107667448	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs144169497	chr7:107667490-107667491	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs1732157	chr7:107667497-107667498	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs77275429	chr7:107667502-107667503	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute myeloid leukemia	16864856	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Melanoma	17363583	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	CNVD
Biliary cancer	19435499	CNVD
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
T-cell lymphomas	22341440	CNVD
Autism	19401682	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107655200-107670000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:107655400-107666600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr7:107657400-107667200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr7:107657600-107667200	Weak transcription	NHDF-Ad	bronchial
5	chr7:107658600-107666800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr7:107658800-107666400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr7:107658800-107671200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:107661800-107666400	Weak transcription	K562	blood
9	chr7:107663600-107666600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr7:107663800-107667200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:107664000-107666800	Weak transcription	Osteobl	bone
12	chr7:107664000-107667000	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr7:107664000-107667200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:107664000-107669800	Weak transcription	NHLF	lung
15	chr7:107664400-107667200	Weak transcription	A549	lung
16	chr7:107666400-107666800	Enhancers	K562	blood
17	chr7:107666400-107667800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr7:107666600-107667400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr7:107666600-107667800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr7:107666800-107667400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr7:107666800-107667400	Enhancers	Fetal Muscle Trunk	muscle
22	chr7:107666800-107667400	Enhancers	Fetal Muscle Leg	muscle
23	chr7:107666800-107667600	Enhancers	Fetal Lung	lung
24	chr7:107666800-107668200	Enhancers	Osteobl	bone
25	chr7:107667000-107667200	Enhancers	HSMM	muscle
26	chr7:107667000-107668000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr7:107667000-107668200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr7:107667200-107667600	Enhancers	NH-A	brain
29	chr7:107667200-107667800	Enhancers	Colon Smooth Muscle	Colon
30	chr7:107667200-107667800	Enhancers	Stomach Smooth Muscle	stomach
31	chr7:107667200-107667800	Enhancers	A549	lung
32	chr7:107667200-107667800	Weak transcription	HSMM	muscle
33	chr7:107667200-107668000	Enhancers	NHDF-Ad	bronchial
34	chr7:107667200-107668200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr7:107667200-107668400	Enhancers	Rectal Smooth Muscle	rectum
36	chr7:107667200-107668600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr7:107667400-107667600	Enhancers	Duodenum Mucosa	Duodenum
38	chr7:107667400-107667800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr7:107667400-107668400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr7:107667400-107670200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:107667600-107669800	Weak transcription	NH-A	brain

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