Variant report

Variant	esv3336849
Chromosome Location	chr7:107766316-107768264
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:107763374..107765754-chr7:107767326..107769960,2	K562	blood:
2	chr7:107766187..107769615-chr7:107773231..107776675,3	K562	blood:
3	chr7:107641169..107643422-chr7:107765213..107768078,2	K562	blood:
4	chr7:107760953..107762544-chr7:107765009..107767000,2	K562	blood:

Variant related genes	Relation type
ENSG00000091136	chromatin interactions

Extended variants
information (count: 73 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:73 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs572571674	chr7:107766366-107766367	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs541579784	chr7:107766407-107766408	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs117995389	chr7:107766522-107766523	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs530320514	chr7:107766528-107766529	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs550179881	chr7:107766531-107766532	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs189438487	chr7:107766602-107766603	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs554796685	chr7:107766650-107766651	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs532722128	chr7:107766659-107766660	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs73725357	chr7:107766660-107766661	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs536537537	chr7:107766669-107766670	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs180944885	chr7:107766674-107766675	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs73428719	chr7:107766708-107766709	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs185222572	chr7:107766734-107766735	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs147748460	chr7:107766740-107766741	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs537263843	chr7:107766748-107766749	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs73428721	chr7:107766756-107766757	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs577049053	chr7:107766795-107766796	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs539399012	chr7:107766796-107766797	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs111968928	chr7:107766829-107766830	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs572483821	chr7:107766862-107766863	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs73428724	chr7:107766907-107766908	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs569989808	chr7:107766933-107766934	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs374170454	chr7:107766938-107766939	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs76117744	chr7:107766944-107766945	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs367967299	chr7:107766995-107766996	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs201668300	chr7:107766999-107767000	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs112271563	chr7:107767000-107767001	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs71137605	chr7:107767020-107767021	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs374662029	chr7:107767041-107767042	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs563774246	chr7:107767049-107767050	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs532830779	chr7:107767109-107767110	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs573106203	chr7:107767159-107767160	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs189597155	chr7:107767165-107767166	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs558874397	chr7:107767167-107767168	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs528094116	chr7:107767171-107767172	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs386716658	chr7:107767172-107767173	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs557345804	chr7:107767177-107767178	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs368918537	chr7:107767183-107767184	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs373262294	chr7:107767186-107767187	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs567803033	chr7:107767228-107767229	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs370002242	chr7:107767264-107767265	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs112047870	chr7:107767292-107767293	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs75929052	chr7:107767309-107767310	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs2395957	chr7:107767377-107767378	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs150199544	chr7:107767401-107767402	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs117805065	chr7:107767502-107767503	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs73725359	chr7:107767516-107767517	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs2395958	chr7:107767517-107767518	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs555030307	chr7:107767578-107767579	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs367637843	chr7:107767616-107767617	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:85)

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
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:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107762000-107769600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr7:107763600-107770000	Weak transcription	Esophagus	oesophagus
3	chr7:107765600-107766400	Enhancers	Fetal Intestine Large	intestine
4	chr7:107765800-107767400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:107765800-107769600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:107766200-107767400	Weak transcription	NHEK	skin
7	chr7:107766400-107768600	Weak transcription	Fetal Intestine Large	intestine
8	chr7:107767400-107770800	Enhancers	NHEK	skin
9	chr7:107767400-107772200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr7:107767600-107768200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:107767800-107768600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr7:107767800-107768600	Enhancers	HMEC	breast
13	chr7:107768000-107768800	Enhancers	Placenta	Placenta
14	chr7:107768000-107769000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr7:107768200-107769000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr7:107768200-107769000	Enhancers	Placenta Amnion	Placenta Amnion

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