Variant report

Variant	esv1994737
Chromosome Location	chr7:80838018-80838431
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	chr7:80828235..80830977-chr7:80837024..80839340,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 79 )

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	rs12112311	chr7:80838039-80838040	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs530616767	chr7:80838062-80838063	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs369117422	chr7:80838068-80838069	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs75760806	chr7:80838113-80838114	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs527366416	chr7:80838154-80838155	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs327714	chr7:80838183-80838184	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs566547227	chr7:80838212-80838213	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs564000353	chr7:80838240-80838241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs150317732	chr7:80838245-80838246	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs1981593	chr7:80838277-80838278	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs327715	chr7:80838340-80838341	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs575627124	chr7:80838371-80838372	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs76740965	chr7:80838409-80838410	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs558059109	chr7:80838422-80838423	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs114405398	chr7:80838427-80838428	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:79)

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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Biliary cancer	19435499	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	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
Non-syndromic sensorineural hearing loss	21987784	CNVD
Neurodevelopmental disorder	22521361	CNVD
Metanephric adenoma	20802469	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	21364760	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Williams-beuren syndrome	16826523	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	19318497	CNVD
Multiple myeloma	16616336	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Schizophrenia	17879154	CNVD
Prostate cancer	16573809	CNVD
Prostate cancer	16461572	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Autism	20858243	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Breast cancer	21611746	CNVD

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:80835800-80838800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr7:80837000-80838400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr7:80837000-80839600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:80837200-80838200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr7:80837400-80838400	Weak transcription	A549	lung
6	chr7:80837400-80838400	Weak transcription	HSMM	muscle
7	chr7:80837400-80839800	Enhancers	K562	blood
8	chr7:80837600-80839800	Weak transcription	Fetal Muscle Leg	muscle
9	chr7:80837600-80840800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr7:80838000-80841800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:80838000-80841800	Enhancers	NHDF-Ad	bronchial
12	chr7:80838200-80838400	Enhancers	Primary hematopoietic stem cells	blood
13	chr7:80838200-80839800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:80838400-80838600	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr7:80838400-80838600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:80838400-80838600	Enhancers	NH-A	brain
17	chr7:80838400-80838800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:80838400-80838800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr7:80838400-80840800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:80838400-80841400	Enhancers	NHLF	lung
21	chr7:80838400-80841400	Enhancers	Osteobl	bone
22	chr7:80838400-80841600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:80838400-80841600	Enhancers	A549	lung
24	chr7:80838400-80841600	Enhancers	HSMM	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links