Variant report

Variant	esv3432634
Chromosome Location	chr4:102160750-102161318
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:102149127..102151835-chr4:102160270..102161845,2	MCF-7	breast:
2	chr4:102160648..102162431-chr4:102260568..102262904,2	MCF-7	breast:
3	chr4:102152625..102154984-chr4:102158702..102160771,2	MCF-7	breast:
4	chr4:102160185..102162407-chr4:102162832..102166466,3	MCF-7	breast:
5	chr4:102160218..102162445-chr4:102172833..102174744,2	MCF-7	breast:
6	chr4:102161014..102163978-chr4:102184167..102186813,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs186866808	chr4:102160767-102160768	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550070063	chr4:102160784-102160785	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568268456	chr4:102160840-102160841	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs535676478	chr4:102160853-102160854	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs553417520	chr4:102161010-102161011	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs192186465	chr4:102161026-102161027	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs369969582	chr4:102161029-102161030	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs539400303	chr4:102161033-102161034	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs557519101	chr4:102161046-102161047	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs576277904	chr4:102161142-102161143	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs531697457	chr4:102161164-102161165	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs66937517	chr4:102161188-102161189	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs2850337	chr4:102161196-102161197	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs3804399	chr4:102161202-102161203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs200697347	chr4:102161203-102161204	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs3804401	chr4:102161204-102161205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs34664327	chr4:102161205-102161206	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs543702069	chr4:102161206-102161207	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs561982483	chr4:102161212-102161213	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs573845096	chr4:102161215-102161216	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs541259636	chr4:102161227-102161228	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs3804403	chr4:102161241-102161242	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs140061397	chr4:102161271-102161272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs552534408	chr4:102161304-102161305	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs532659953	chr4:102161311-102161312	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:73)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	17603634	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Breast cancer	16272173	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Myelodysplastic syndrome	21251322	CNVD
Lung cancer	18438408	CNVD
Cancer	22429812	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	21183584	CNVD
primary effusion lymphomas	17116491	CNVD
small cell lung cancer	20016488	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	17133270	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Colorectal cancer	20459617	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Hirschsprung''s Disease	21712996	CNVD
Congenital anomalies of the kidney and urinary tract	20505237	CNVD
Breast cancer	17393978	CNVD
Ovarian cancer	21720365	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	16573809	CNVD
Multiple myeloma	16616336	CNVD
Melanoma	20688739	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	18000384	CNVD

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102146400-102162000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr4:102152800-102165600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:102153000-102165600	Weak transcription	Brain Anterior Caudate	brain
4	chr4:102153000-102165600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr4:102157400-102165400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr4:102157800-102179600	Weak transcription	Primary B cells from cord blood	blood
7	chr4:102158400-102161000	Enhancers	Skeletal Muscle Female	skeletal muscle
8	chr4:102159000-102160800	Enhancers	Adipose Nuclei	Adipose
9	chr4:102159000-102161000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr4:102159000-102161000	Enhancers	NHLF	lung
11	chr4:102159000-102161200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:102159200-102162000	Weak transcription	Ovary	ovary
13	chr4:102159200-102162200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr4:102159200-102163000	Weak transcription	Stomach Mucosa	stomach
15	chr4:102159200-102164000	Weak transcription	Gastric	stomach
16	chr4:102159200-102164000	Weak transcription	Pancreas	Pancrea
17	chr4:102159200-102164000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr4:102159200-102165600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr4:102159200-102165600	Weak transcription	Brain Angular Gyrus	brain
20	chr4:102159200-102165600	Weak transcription	Esophagus	oesophagus
21	chr4:102159200-102179800	Weak transcription	Psoas Muscle	Psoas
22	chr4:102159400-102161000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr4:102159600-102161000	Enhancers	Muscle Satellite Cultured Cells	--
24	chr4:102159600-102161000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr4:102159600-102161000	Enhancers	Hela-S3	cervix
26	chr4:102159600-102161200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr4:102159600-102161200	Enhancers	NHDF-Ad	bronchial
28	chr4:102159600-102161200	Enhancers	Osteobl	bone
29	chr4:102159600-102161400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr4:102159800-102160800	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr4:102159800-102160800	Enhancers	Fetal Kidney	kidney
32	chr4:102159800-102161000	Enhancers	Colon Smooth Muscle	Colon
33	chr4:102159800-102161000	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr4:102159800-102161200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:102159800-102161400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr4:102160000-102160800	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr4:102160000-102161000	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr4:102160200-102160800	Enhancers	HUES64 Cell Line	embryonic stem cell
39	chr4:102160200-102160800	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr4:102160200-102161000	Enhancers	Brain Hippocampus Middle	brain
41	chr4:102160200-102161000	Enhancers	HSMM	muscle
42	chr4:102160400-102161000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr4:102160400-102161000	Enhancers	HSMMtube	muscle
44	chr4:102160400-102161400	Enhancers	A549	lung
45	chr4:102160400-102161400	Enhancers	NHEK	skin
46	chr4:102160400-102163200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr4:102160400-102164000	Weak transcription	HMEC	breast
48	chr4:102160400-102165600	Weak transcription	Small Intestine	intestine
49	chr4:102160600-102161000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr4:102160600-102161000	Enhancers	Primary B cells from peripheral blood	blood

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