Variant report

Variant	esv3351183
Chromosome Location	chr7:104453953-104454539
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	chr7:104451035..104453878-chr7:104454466..104456364,2	K562	blood:
2	chr7:104453530..104456071-chr7:104485897..104488742,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10249687	chr7:104454012-104454013	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs537339412	chr7:104454036-104454037	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs557674657	chr7:104454120-104454121	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs370288536	chr7:104454122-104454123	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs140103873	chr7:104454145-104454146	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs145524437	chr7:104454173-104454174	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376507164	chr7:104454177-104454178	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs558656936	chr7:104454205-104454206	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs6964274	chr7:104454292-104454293	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs2465063	chr7:104454298-104454299	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs147379566	chr7:104454367-104454368	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs188262103	chr7:104454498-104454499	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs139519249	chr7:104454499-104454500	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563610272	chr7:104454507-104454508	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs532358382	chr7:104454523-104454524	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	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
Bladder cancer	21909424	CNVD
Breast cancer	21858162	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Autism	19401682	CNVD
Neuroticism	17667963	CNVD
Prostate cancer	18632612	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Cancer	19907438	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Myelofibrosis	22110671	CNVD
early-passage human iPS cells	21368824	CNVD
Cancer	20164919	CNVD
Ovarian cancer	21781307	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:9 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104440400-104482400	Weak transcription	Fetal Intestine Small	intestine
2	chr7:104446600-104455200	Weak transcription	Brain Hippocampus Middle	brain
3	chr7:104448600-104459800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr7:104449000-104454800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:104452800-104455600	Weak transcription	Brain Substantia Nigra	brain
6	chr7:104453000-104459200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:104453800-104454400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr7:104454000-104455400	Enhancers	Brain Anterior Caudate	brain
9	chr7:104454400-104454800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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