Variant report

Variant	esv3392591
Chromosome Location	chr7:106762353-106762759
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:106761889..106764464-chr7:106771416..106774166,2	MCF-7	breast:
2	chr7:106758338..106764919-chr7:106770335..106778369,9	K562	blood:
3	chr7:106755457..106758160-chr7:106760094..106763600,5	K562	blood:

Variant related genes	Relation type
ENSG00000243193	chromatin interactions

Extended variants
information (count: 11 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187803663	chr7:106762384-106762385	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs149865268	chr7:106762447-106762448	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs571230488	chr7:106762534-106762535	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs370113815	chr7:106762552-106762553	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs114323566	chr7:106762599-106762600	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs145580458	chr7:106762627-106762628	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs567132105	chr7:106762655-106762656	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs536396438	chr7:106762686-106762687	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs555992589	chr7:106762710-106762711	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs148882645	chr7:106762711-106762712	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs2237656	chr7:106762739-106762740	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Basal cell lymphoma	17170743	CNVD
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
Non-small cell lung cancer	21829676	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	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
small cell lung cancer	20016488	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
Malignant melanoma	17260012	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	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
Squamous cell cancer	20885788	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Multiple myeloma	16461302	CNVD
Pancreatic cancer	17952125	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:106756600-106771200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:106759200-106762800	Weak transcription	Ovary	ovary
3	chr7:106759400-106762400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr7:106759400-106762600	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr7:106759400-106762800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr7:106759800-106762800	Weak transcription	Fetal Lung	lung
7	chr7:106759800-106763400	Weak transcription	NHLF	lung
8	chr7:106759800-106771600	Weak transcription	Brain Anterior Caudate	brain
9	chr7:106759800-106774000	Weak transcription	Left Ventricle	heart
10	chr7:106760000-106763200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:106760200-106762600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr7:106760200-106763400	Weak transcription	Fetal Stomach	stomach
13	chr7:106760200-106771200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr7:106760200-106782000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr7:106760400-106762600	Weak transcription	Adipose Nuclei	Adipose
16	chr7:106760400-106762800	Weak transcription	K562	blood
17	chr7:106760400-106808400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:106760600-106765400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:106760600-106771400	Weak transcription	Fetal Kidney	kidney
20	chr7:106762000-106762600	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr7:106762000-106763800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr7:106762200-106762400	Weak transcription	A549	lung
23	chr7:106762200-106763400	Enhancers	Pancreatic Islets	Pancreatic Islet
24	chr7:106762200-106765800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr7:106762400-106762600	Enhancers	A549	lung
26	chr7:106762400-106763000	Enhancers	Stomach Smooth Muscle	stomach
27	chr7:106762400-106763400	Enhancers	Liver	Liver
28	chr7:106762600-106763000	Flanking Active TSS	A549	lung
29	chr7:106762600-106763200	Enhancers	Osteobl	bone
30	chr7:106762600-106763400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:106762600-106763400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr7:106762600-106763600	Enhancers	Adipose Nuclei	Adipose
33	chr7:106762600-106763600	Weak transcription	Duodenum Smooth Muscle	Duodenum

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