Variant report

Variant	esv3529148
Chromosome Location	chr2:86396634-86397017
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	chr2:86394345..86397737-chr2:86420748..86423502,3	MCF-7	breast:
2	chr2:86332781..86335214-chr2:86396440..86398251,2	K562	blood:

Variant related genes	Relation type
ENSG00000068654	chromatin interactions
ENSG00000273080	chromatin interactions
ENSG00000132300	chromatin interactions
ENSG00000132305	chromatin interactions

Extended variants
information (count: 14 )
Associated
traits (count: 49 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373110815	chr2:86396650-86396651	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs139331099	chr2:86396670-86396671	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs184569911	chr2:86396675-86396676	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs537786673	chr2:86396691-86396692	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs555676585	chr2:86396714-86396715	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs2278083	chr2:86396719-86396720	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
7	rs535088693	chr2:86396738-86396739	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs553528408	chr2:86396750-86396751	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs578038686	chr2:86396806-86396807	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs567470750	chr2:86396854-86396855	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs545430727	chr2:86396855-86396856	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs563744684	chr2:86396929-86396930	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs576254905	chr2:86397001-86397002	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs543729376	chr2:86397004-86397005	Weak transcription Strong transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:49)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Lung cancer	18438408	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	16272173	CNVD
Breast cancer	20409316	CNVD
Breast cancer	21990379	CNVD
Astrocytoma	22246337	CNVD
Papillary thyroid carcinoma	22161024	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Breast cancer	21364760	CNVD
Autism	22495309	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86335000-86409000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:86335400-86408800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr2:86335600-86401000	Strong transcription	Placenta	Placenta
4	chr2:86335600-86407400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr2:86335600-86408600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:86336000-86401200	Strong transcription	Adipose Nuclei	Adipose
7	chr2:86336800-86407400	Strong transcription	Dnd41	blood
8	chr2:86342000-86399800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr2:86342800-86408600	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:86342800-86408600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:86343000-86408600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:86367600-86403400	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr2:86368000-86402000	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:86368200-86400600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:86370600-86401400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr2:86371200-86398400	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr2:86375200-86397000	Weak transcription	Small Intestine	intestine
18	chr2:86377600-86403200	Weak transcription	Stomach Mucosa	stomach
19	chr2:86378600-86401000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:86379800-86407400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:86380000-86400600	Strong transcription	Duodenum Mucosa	Duodenum
22	chr2:86380000-86401400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:86381000-86400400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:86381000-86400800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr2:86381200-86401400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr2:86381600-86399600	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr2:86381600-86400800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr2:86381600-86409000	Strong transcription	Fetal Thymus	thymus
29	chr2:86381800-86398600	Strong transcription	Cortex derived primary cultured neurospheres	brain
30	chr2:86381800-86399800	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:86381800-86400000	Strong transcription	Left Ventricle	heart
32	chr2:86381800-86400200	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:86381800-86401000	Strong transcription	Fetal Muscle Leg	muscle
34	chr2:86381800-86401200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr2:86381800-86401200	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr2:86381800-86401400	Strong transcription	Primary B cells from peripheral blood	blood
37	chr2:86381800-86401400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:86381800-86401600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr2:86381800-86401800	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr2:86381800-86407400	Strong transcription	Liver	Liver
41	chr2:86381800-86409000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr2:86382000-86400000	Strong transcription	Fetal Muscle Trunk	muscle
43	chr2:86382400-86399600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:86382600-86400400	Strong transcription	Stomach Smooth Muscle	stomach
45	chr2:86383000-86398800	Strong transcription	Skeletal Muscle Female	skeletal muscle
46	chr2:86383600-86398200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr2:86384000-86400400	Strong transcription	Osteobl	bone
48	chr2:86384000-86400800	Strong transcription	H1 Cell Line	embryonic stem cell
49	chr2:86386200-86413000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr2:86387600-86410000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links