Variant report

Variant	esv3449818
Chromosome Location	chr4:102084799-102086042
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	chr14:50527951..50530395-chr4:102085394..102088001,2	MCF-7	breast:

Extended variants
information (count: 44 )
Associated
traits (count: 73 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs5014618	chr4:102084920-102084921	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs566056303	chr4:102084931-102084932	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs535912699	chr4:102084959-102084960	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs17030836	chr4:102084965-102084966	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs150390353	chr4:102084986-102084987	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs530075647	chr4:102084995-102084996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs192936052	chr4:102085015-102085016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs577090641	chr4:102085067-102085068	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs111288492	chr4:102085160-102085161	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs368481796	chr4:102085169-102085170	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs372251666	chr4:102085172-102085173	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375133809	chr4:102085176-102085177	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs368503432	chr4:102085177-102085178	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs563492172	chr4:102085182-102085183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs183575808	chr4:102085240-102085241	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs188957009	chr4:102085244-102085245	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs149914807	chr4:102085246-102085247	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs192488732	chr4:102085248-102085249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs184752518	chr4:102085254-102085255	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs142631546	chr4:102085324-102085325	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs578227840	chr4:102085369-102085370	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs529918703	chr4:102085396-102085397	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs58879959	chr4:102085400-102085401	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs142958644	chr4:102085402-102085403	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs199530481	chr4:102085405-102085406	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs116383168	chr4:102085423-102085424	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs144911524	chr4:102085431-102085432	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs546708148	chr4:102085436-102085437	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs571896737	chr4:102085473-102085474	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138666475	chr4:102085483-102085484	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs72681044	chr4:102085505-102085506	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs191304067	chr4:102085525-102085526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs536454619	chr4:102085532-102085533	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs114060431	chr4:102085628-102085629	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs80068469	chr4:102085686-102085687	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs373118181	chr4:102085719-102085720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs36078367	chr4:102085720-102085721	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs58882435	chr4:102085734-102085735	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs1810024	chr4:102085740-102085741	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs141789729	chr4:102085764-102085765	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576928892	chr4:102085816-102085817	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs544472771	chr4:102085971-102085972	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs556507900	chr4:102085995-102085996	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs111555569	chr4:102086012-102086013	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:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102062600-102090400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr4:102078400-102093200	Weak transcription	HUVEC	blood vessel
3	chr4:102078400-102096600	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr4:102078600-102088400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr4:102078600-102090200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr4:102078800-102096000	Weak transcription	Ovary	ovary
7	chr4:102079000-102088800	Weak transcription	Fetal Intestine Small	intestine
8	chr4:102079400-102113800	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr4:102079600-102088800	Weak transcription	Psoas Muscle	Psoas
10	chr4:102079800-102087200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr4:102079800-102096400	Weak transcription	Adipose Nuclei	Adipose
12	chr4:102080000-102085200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr4:102080000-102085200	Weak transcription	Osteobl	bone
14	chr4:102080000-102092200	Weak transcription	NHDF-Ad	bronchial
15	chr4:102080000-102092600	Weak transcription	NH-A	brain
16	chr4:102080200-102085200	Weak transcription	HSMM	muscle
17	chr4:102080400-102087400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:102080400-102088800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr4:102080600-102093000	Weak transcription	NHLF	lung
20	chr4:102080600-102100600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr4:102081000-102090200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr4:102082600-102090000	Weak transcription	Primary B cells from cord blood	blood
23	chr4:102082800-102084800	Weak transcription	NHEK	skin
24	chr4:102082800-102085200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr4:102083000-102088400	Weak transcription	Brain Anterior Caudate	brain
26	chr4:102083000-102096200	Weak transcription	Brain Hippocampus Middle	brain
27	chr4:102083200-102096800	Weak transcription	Brain Angular Gyrus	brain
28	chr4:102083800-102087200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr4:102084000-102084800	Enhancers	Primary B cells from peripheral blood	blood
30	chr4:102084000-102084800	Enhancers	Colon Smooth Muscle	Colon
31	chr4:102084000-102085800	Enhancers	HMEC	breast
32	chr4:102084000-102086400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:102084000-102086400	Enhancers	A549	lung
34	chr4:102084000-102089200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr4:102084200-102086000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:102084200-102088800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr4:102084200-102103400	Weak transcription	Primary hematopoietic stem cells	blood
38	chr4:102084600-102084800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:102084600-102084800	Enhancers	Brain Cingulate Gyrus	brain
40	chr4:102084600-102085400	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr4:102084600-102089400	Weak transcription	Brain Substantia Nigra	brain
42	chr4:102084800-102085000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr4:102084800-102086000	Enhancers	NHEK	skin
44	chr4:102084800-102090200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr4:102084800-102092000	Weak transcription	Colon Smooth Muscle	Colon
46	chr4:102085000-102085200	Weak transcription	Esophagus	oesophagus
47	chr4:102085200-102085400	Enhancers	Esophagus	oesophagus
48	chr4:102085200-102085600	Enhancers	Muscle Satellite Cultured Cells	--
49	chr4:102085200-102085600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr4:102085200-102085600	Enhancers	HSMM	muscle

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