Variant report

Variant	esv3449472
Chromosome Location	chr4:48387608-48388148
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	chr4:48342945..48345257-chr4:48386743..48389713,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109171	chromatin interactions

Extended variants
information (count: 27 )
Associated
traits (count: 63 )

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534847912	chr4:48387647-48387648	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs11423786	chr4:48387655-48387656	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs553181632	chr4:48387661-48387662	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs199903721	chr4:48387666-48387667	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs571495192	chr4:48387672-48387673	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs538911973	chr4:48387701-48387702	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs556690031	chr4:48387729-48387730	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs117413697	chr4:48387750-48387751	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs542338328	chr4:48387765-48387766	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs192199882	chr4:48387777-48387778	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs150029907	chr4:48387828-48387829	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs541255296	chr4:48387847-48387848	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs11725992	chr4:48387851-48387852	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs531764188	chr4:48387917-48387918	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs533497489	chr4:48387932-48387933	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs112102812	chr4:48387934-48387935	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs563553561	chr4:48387955-48387956	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs532283338	chr4:48387960-48387961	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs543995511	chr4:48387962-48387963	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs530890277	chr4:48387963-48387964	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs549381422	chr4:48388065-48388066	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs184570700	chr4:48388081-48388082	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs528592407	chr4:48388091-48388092	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs372227169	chr4:48388106-48388107	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs371241511	chr4:48388107-48388108	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs11736283	chr4:48388124-48388125	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	mRNA abundance
27	rs546518038	chr4:48388135-48388136	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:63)

Disease	PMID	Source
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
Oral squamous cell carcinoma	17134496	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Autism	22495311	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	16608533	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	22183965	CNVD
Cancer	22183965	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Acute myeloid leukemia	20729466	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Basal cell lymphoma	21115979	CNVD
Breast cancer	22522925	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Renal cell carcinoma	20952505	CNVD
small cell lung cancer	20016488	CNVD

Chromatin state (count:148 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48355000-48412600	Weak transcription	Aorta	Aorta
2	chr4:48355800-48390600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr4:48363400-48405400	Weak transcription	Right Ventricle	heart
4	chr4:48371400-48395400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr4:48372600-48426800	Weak transcription	Small Intestine	intestine
6	chr4:48377800-48405000	Weak transcription	Esophagus	oesophagus
7	chr4:48377800-48423800	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr4:48378000-48390000	Weak transcription	NHLF	lung
9	chr4:48378000-48423800	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:48378200-48398400	Weak transcription	A549	lung
11	chr4:48378400-48395200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:48378400-48405000	Weak transcription	Gastric	stomach
13	chr4:48378400-48405200	Weak transcription	Psoas Muscle	Psoas
14	chr4:48378600-48395200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:48379600-48391800	Strong transcription	Primary T helper cells PMA-I stimulated	--
16	chr4:48379600-48393600	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr4:48379600-48400200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr4:48379800-48388200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr4:48380000-48389200	Strong transcription	Fetal Lung	lung
20	chr4:48380000-48392000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr4:48380000-48399200	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr4:48380200-48388600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:48380400-48388000	Strong transcription	Primary T cells from cord blood	blood
24	chr4:48381200-48389400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr4:48381400-48405000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr4:48381600-48405000	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr4:48382000-48389000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr4:48382000-48389000	Strong transcription	Primary B cells from peripheral blood	blood
29	chr4:48382200-48398600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr4:48382200-48431800	Weak transcription	H9 Cell Line	embryonic stem cell
31	chr4:48382400-48388000	Strong transcription	Dnd41	blood
32	chr4:48382600-48388000	Strong transcription	Fetal Intestine Large	intestine
33	chr4:48383000-48388400	Weak transcription	Brain Anterior Caudate	brain
34	chr4:48383000-48389200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr4:48383000-48397200	Strong transcription	Fetal Thymus	thymus
36	chr4:48383000-48398400	Weak transcription	Fetal Brain Female	brain
37	chr4:48383000-48405200	Weak transcription	Spleen	Spleen
38	chr4:48383200-48389400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:48383200-48390000	Weak transcription	Brain Substantia Nigra	brain
40	chr4:48383200-48390600	Weak transcription	Brain Cingulate Gyrus	brain
41	chr4:48383200-48397000	Weak transcription	HUVEC	blood vessel
42	chr4:48383200-48398800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr4:48383200-48412000	Weak transcription	Fetal Brain Male	brain
44	chr4:48383600-48389000	Strong transcription	HSMM	muscle
45	chr4:48383600-48398600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr4:48383800-48389400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr4:48383800-48390000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr4:48383800-48395400	Weak transcription	HSMMtube	muscle
49	chr4:48383800-48397400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr4:48383800-48398000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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