Variant report

Variant	esv3361548
Chromosome Location	chr2:32304380-32304820
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	chr2:32299913..32303134-chr2:32303836..32306094,3	MCF-7	breast:
2	chr2:32288016..32290061-chr2:32304327..32306371,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000021574	chromatin interactions

Extended variants
information (count: 22 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs577947935	chr2:32304422-32304423	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs7584235	chr2:32304445-32304446	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs531194538	chr2:32304449-32304450	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs550478767	chr2:32304496-32304497	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs186260440	chr2:32304501-32304502	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs78688080	chr2:32304502-32304503	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs572818009	chr2:32304537-32304538	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs541596620	chr2:32304548-32304549	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs111840558	chr2:32304573-32304574	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs58989905	chr2:32304583-32304584	Weak transcription Genic enhancers Strong transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs561550452	chr2:32304610-32304611	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs530483773	chr2:32304618-32304619	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs543965873	chr2:32304625-32304626	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs564255024	chr2:32304651-32304652	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs56740303	chr2:32304656-32304657	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs199672557	chr2:32304693-32304694	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs111385117	chr2:32304694-32304695	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs369656360	chr2:32304695-32304696	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs546612359	chr2:32304742-32304743	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs190861441	chr2:32304744-32304745	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs139811774	chr2:32304793-32304794	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs549549824	chr2:32304798-32304799	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Breast cancer	17393978	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Breast cancer	17603634	CNVD
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Bladder cancer	21909424	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Autism	22495311	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	19521722	CNVD
Autism	18522746	CNVD
Breast cancer	21364760	CNVD
Wilms tumour	21544195	CNVD
Non-small cell lung cancer	18927303	CNVD
Hereditary gingival fibromatosis	19633868	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21785460	CNVD
Myelofibrosis	22110671	CNVD
Breast cancer	21045282	CNVD
Prostate cancer	21965145	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Neurocytoma	17123091	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:32289600-32330800	Weak transcription	Spleen	Spleen
2	chr2:32289800-32313800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr2:32289800-32314600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:32289800-32315800	Weak transcription	Colon Smooth Muscle	Colon
5	chr2:32289800-32319400	Weak transcription	Aorta	Aorta
6	chr2:32289800-32319400	Weak transcription	Pancreas	Pancrea
7	chr2:32289800-32330800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr2:32290000-32315800	Weak transcription	Fetal Kidney	kidney
9	chr2:32290000-32315800	Weak transcription	HSMM	muscle
10	chr2:32290000-32316600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:32290000-32318600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:32290200-32313800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr2:32290200-32330800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:32290400-32313400	Weak transcription	Fetal Thymus	thymus
15	chr2:32290400-32313800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:32290400-32315000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:32290400-32315000	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr2:32290400-32315000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:32290400-32331000	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:32290400-32353400	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:32290600-32314800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:32290600-32330800	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr2:32290800-32313600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:32290800-32313800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr2:32290800-32317200	Weak transcription	Brain Hippocampus Middle	brain
26	chr2:32290800-32330200	Weak transcription	Primary hematopoietic stem cells	blood
27	chr2:32291000-32314800	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr2:32291000-32330400	Weak transcription	Brain Anterior Caudate	brain
29	chr2:32291000-32330800	Weak transcription	Brain Angular Gyrus	brain
30	chr2:32291000-32332600	Weak transcription	A549	lung
31	chr2:32291400-32327600	Weak transcription	Hela-S3	cervix
32	chr2:32291400-32331000	Weak transcription	Brain Cingulate Gyrus	brain
33	chr2:32291600-32322000	Weak transcription	Cortex derived primary cultured neurospheres	brain
34	chr2:32291600-32330800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr2:32291600-32330800	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr2:32291600-32332200	Weak transcription	HUVEC	blood vessel
37	chr2:32291800-32313200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:32292000-32314600	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr2:32292000-32330800	Weak transcription	Lung	lung
40	chr2:32292000-32343200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:32292400-32314800	Weak transcription	Placenta	Placenta
42	chr2:32292400-32330800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr2:32292600-32313600	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr2:32292600-32317600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr2:32292600-32353800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr2:32294600-32314200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:32294600-32325000	Weak transcription	Dnd41	blood
48	chr2:32294800-32313200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr2:32295000-32313000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr2:32295000-32330200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood

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