Variant report

Variant	esv3383624
Chromosome Location	chr7:83766678-83767078
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	chr7:83766680..83768990-chr7:83769908..83771879,2	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34805696	chr7:83766688-83766689	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs536752797	chr7:83766700-83766701	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs56358952	chr7:83766714-83766715	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs375276357	chr7:83766717-83766718	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs59886680	chr7:83766733-83766734	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs201574693	chr7:83766734-83766735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs78714730	chr7:83766760-83766761	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs143967290	chr7:83766793-83766794	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs13225879	chr7:83766796-83766797	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs28523729	chr7:83766809-83766810	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs28756897	chr7:83766826-83766827	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs17158650	chr7:83766839-83766840	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs576787287	chr7:83766858-83766859	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186301977	chr7:83766871-83766872	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs73177448	chr7:83766916-83766917	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs28726181	chr7:83766962-83766963	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs575491624	chr7:83766981-83766982	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs542917906	chr7:83766986-83766987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs34271601	chr7:83766991-83766992	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs113569861	chr7:83766995-83766996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs58880773	chr7:83767006-83767007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs561080745	chr7:83767011-83767012	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs573298255	chr7:83767053-83767054	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs76493550	chr7:83767065-83767066	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
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
Renal cell carcinoma	18194544	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	21611746	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83745000-83769400	Weak transcription	Fetal Stomach	stomach
2	chr7:83752600-83769600	Weak transcription	A549	lung
3	chr7:83753800-83766800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:83753800-83766800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr7:83753800-83768000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:83753800-83768200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr7:83753800-83769600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr7:83753800-83770800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr7:83754000-83767400	Weak transcription	NHLF	lung
10	chr7:83754000-83767800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr7:83754000-83772200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:83754000-83774200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr7:83755000-83768800	Weak transcription	Colon Smooth Muscle	Colon
14	chr7:83761000-83768600	Weak transcription	Fetal Lung	lung
15	chr7:83761000-83775200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr7:83764200-83767800	Weak transcription	NHDF-Ad	bronchial
17	chr7:83764200-83771800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr7:83764400-83767000	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr7:83764400-83769600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:83764400-83771000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:83764400-83774000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr7:83764600-83766800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr7:83765400-83767000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr7:83765400-83769000	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr7:83765400-83769000	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr7:83765600-83773400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:83765800-83768800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr7:83766200-83766800	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr7:83766200-83767200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr7:83766600-83767600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr7:83766800-83767400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr7:83766800-83767400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr7:83766800-83768000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr7:83766800-83770000	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr7:83767000-83767400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr7:83767000-83776800	Weak transcription	H9 Cell Line	embryonic stem cell

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