Variant report

Variant	esv3410716
Chromosome Location	chr2:37519728-37520086
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:37519700-37519735	MCF-7	breast:	n/a	n/a
2	MYC	chr2:37519841-37519900	MCF-7	breast:	n/a	n/a
3	MYC	chr2:37519672-37519801	MCF-7	breast:	n/a	n/a
4	POLR2A	chr2:37519631-37519834	MCF-7	breast:	n/a	n/a
5	POLR2A	chr2:37519837-37519843	MCF-7	breast:	n/a	n/a
6	POLR2A	chr2:37519661-37519899	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37515749..37518986-chr2:37519736..37522711,3	K562	blood:

Variant related genes	Relation type
PRKD3	TF binding region
ENSG00000115825	chromatin interactions

Extended variants
information (count: 23 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs376089156	chr2:37519736-37519737	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs537954577	chr2:37519740-37519741	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs539688086	chr2:37519759-37519760	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs11682607	chr2:37519768-37519769	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs536073350	chr2:37519779-37519780	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs554320971	chr2:37519781-37519782	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs2888463	chr2:37519782-37519783	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs540485565	chr2:37519785-37519786	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs375740643	chr2:37519796-37519797	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs146539257	chr2:37519798-37519799	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs576727777	chr2:37519812-37519813	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs113057338	chr2:37519824-37519825	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs533975539	chr2:37519835-37519836	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs543861727	chr2:37519856-37519857	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs7340216	chr2:37519858-37519859	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs201612633	chr2:37519932-37519933	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs11124577	chr2:37519967-37519968	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
18	rs200986602	chr2:37519968-37519969	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs11693917	chr2:37519969-37519970	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
20	rs573739478	chr2:37519984-37519985	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs560642256	chr2:37520035-37520036	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs527995060	chr2:37520036-37520037	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs11683872	chr2:37520079-37520080	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:57)

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
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	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
Breast cancer	21785460	CNVD
Lung cancer	18438408	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
Neurocytoma	17123091	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37460200-37528600	Weak transcription	Stomach Mucosa	stomach
2	chr2:37467600-37530200	Weak transcription	Pancreas	Pancrea
3	chr2:37470400-37521600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:37470800-37521400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:37479400-37520600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr2:37482800-37528600	Weak transcription	Brain Cingulate Gyrus	brain
7	chr2:37484200-37539000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr2:37484600-37550400	Weak transcription	Right Ventricle	heart
9	chr2:37487200-37528600	Weak transcription	Brain Substantia Nigra	brain
10	chr2:37487600-37521200	Weak transcription	Brain Angular Gyrus	brain
11	chr2:37490600-37521000	Strong transcription	Dnd41	blood
12	chr2:37499200-37520800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:37499200-37521400	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:37499200-37522200	Weak transcription	Spleen	Spleen
15	chr2:37499400-37522800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr2:37499400-37528600	Weak transcription	Brain Anterior Caudate	brain
17	chr2:37499400-37540200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr2:37500200-37529800	Weak transcription	Fetal Intestine Small	intestine
19	chr2:37500200-37530200	Weak transcription	Gastric	stomach
20	chr2:37500400-37520400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr2:37500600-37530200	Weak transcription	Thymus	Thymus
22	chr2:37502200-37528200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:37502200-37528600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:37502600-37520000	Weak transcription	Fetal Brain Female	brain
25	chr2:37502600-37521600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:37502600-37524600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr2:37502600-37528600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:37502600-37532600	Weak transcription	Small Intestine	intestine
29	chr2:37502600-37533000	Weak transcription	Psoas Muscle	Psoas
30	chr2:37502600-37535800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr2:37502800-37528800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr2:37502800-37528800	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:37502800-37533800	Weak transcription	Lung	lung
34	chr2:37502800-37543400	Weak transcription	Esophagus	oesophagus
35	chr2:37505000-37521000	Strong transcription	Monocytes-CD14+_RO01746	blood
36	chr2:37505600-37520400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:37509000-37550800	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr2:37509600-37528600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:37509600-37539000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr2:37510200-37526600	Weak transcription	K562	blood
41	chr2:37510600-37536600	Weak transcription	Placenta	Placenta
42	chr2:37510800-37532200	Weak transcription	Rectal Smooth Muscle	rectum
43	chr2:37511000-37533600	Weak transcription	Left Ventricle	heart
44	chr2:37511000-37550800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr2:37511200-37530200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:37511200-37534600	Weak transcription	HSMMtube	muscle
47	chr2:37511600-37520200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr2:37511800-37528600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr2:37512400-37520400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr2:37512600-37520400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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