Variant report

Variant	esv2467988
Chromosome Location	chr2:152317770-152319395
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	chr2:152318468-152318536	MCF-7	breast:	n/a	n/a
2	POLR2A	chr2:152318481-152318500	MCF-7	breast:	n/a	n/a
3	POLR2A	chr2:152318431-152318545	A549	lung:	n/a	n/a
4	POLR2A	chr2:152318487-152318492	K562	blood:	n/a	n/a
5	POLR2A	chr2:152318400-152318552	MCF-7	breast:	n/a	n/a
6	POLR2A	chr2:152318882-152327530	K562	blood:	n/a	n/a
7	RFX5	chr2:152319360-152319546	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:152316997..152319818-chr2:152338220..152340859,2	K562	blood:

Variant related genes	Relation type
RIF1	TF binding region

Extended variants
information (count: 74 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:74 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs369530249	chr2:152317789-152317790	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs201028450	chr2:152317830-152317831	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs535883794	chr2:152317865-152317866	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs374480238	chr2:152317906-152317907	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs367890620	chr2:152317929-152317930	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs553004196	chr2:152317975-152317976	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs186704629	chr2:152317997-152317998	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs545156557	chr2:152318010-152318011	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs4664438	chr2:152318031-152318032	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
10	rs575527027	chr2:152318037-152318038	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs544914151	chr2:152318038-152318039	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs561108080	chr2:152318066-152318067	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs35689729	chr2:152318130-152318131	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs530080144	chr2:152318133-152318134	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs375359288	chr2:152318164-152318165	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs540273738	chr2:152318174-152318175	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs191559371	chr2:152318236-152318237	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146770634	chr2:152318328-152318329	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs376360656	chr2:152318333-152318334	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs551599530	chr2:152318370-152318371	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs140314831	chr2:152318375-152318376	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs530700400	chr2:152318431-152318432	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs184027197	chr2:152318453-152318454	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs567471033	chr2:152318480-152318481	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs536196398	chr2:152318499-152318500	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
26	rs117965743	chr2:152318500-152318501	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs13412524	chr2:152318513-152318514	Strong transcription Weak transcription	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs538391994	chr2:152318518-152318519	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs558701506	chr2:152318534-152318535	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs575465933	chr2:152318536-152318537	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs113934813	chr2:152318544-152318545	Strong transcription Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs115632968	chr2:152318598-152318599	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs555201213	chr2:152318636-152318637	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs575043000	chr2:152318666-152318667	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs540613673	chr2:152318677-152318678	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs188062713	chr2:152318683-152318684	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs577390859	chr2:152318702-152318703	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs59316798	chr2:152318714-152318715	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs201121498	chr2:152318715-152318716	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs199758389	chr2:152318716-152318717	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs398060665	chr2:152318717-152318718	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546353954	chr2:152318721-152318722	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs193032815	chr2:152318747-152318748	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs147636840	chr2:152318778-152318779	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs185136325	chr2:152318782-152318783	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs369863433	chr2:152318798-152318799	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs142792870	chr2:152318818-152318819	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs372581674	chr2:152318841-152318842	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs150351738	chr2:152318848-152318849	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs377341152	chr2:152318863-152318864	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:48)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
epilepsy	18472482	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Colorectal cancer	16272173	CNVD
myoclonus epilepsy	18472482	CNVD
Benign familial neonatal-infantile seizures	18472482	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Prostate cancer	18632612	CNVD
Lung cancer	18438408	CNVD
Mental retardation	22214275	CNVD
Glioblastoma	21080181	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Myelofibrosis	22110671	CNVD
Mental retardation	19156171	CNVD
Acute myeloid leukemia	18000384	CNVD
Autism	20808228	CNVD

Chromatin state (count:167 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152267600-152379400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:152267800-152340400	Weak transcription	Stomach Mucosa	stomach
3	chr2:152268000-152342800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:152268200-152319400	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:152268200-152320800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:152268200-152327800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr2:152268200-152328400	Strong transcription	H1 Cell Line	embryonic stem cell
8	chr2:152268200-152328600	Strong transcription	Fetal Thymus	thymus
9	chr2:152268400-152327800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:152268600-152319200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:152268600-152326800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:152268600-152327800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr2:152268600-152334400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:152268600-152342600	Strong transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:152268800-152319600	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:152268800-152326800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:152268800-152327800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:152268800-152327800	Strong transcription	Primary neutrophils fromperipheralblood	blood
19	chr2:152269400-152327200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:152272400-152319200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr2:152272400-152327800	Strong transcription	Dnd41	blood
22	chr2:152283800-152334000	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr2:152284200-152327000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:152284600-152327800	Strong transcription	HepG2	liver
25	chr2:152285000-152327800	Strong transcription	Placenta	Placenta
26	chr2:152285200-152327600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr2:152285200-152327800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:152285200-152331200	Strong transcription	Adipose Nuclei	Adipose
29	chr2:152290600-152323400	Weak transcription	Aorta	Aorta
30	chr2:152291800-152321000	Strong transcription	Duodenum Mucosa	Duodenum
31	chr2:152294400-152321400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr2:152294600-152327800	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr2:152294800-152327800	Strong transcription	Primary T helper cells fromperipheralblood	blood
34	chr2:152295800-152348400	Weak transcription	Right Ventricle	heart
35	chr2:152298600-152327600	Strong transcription	HUVEC	blood vessel
36	chr2:152300000-152333400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr2:152300200-152327800	Strong transcription	K562	blood
38	chr2:152301000-152319200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:152301600-152324400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr2:152301800-152343800	Weak transcription	Gastric	stomach
41	chr2:152303200-152325000	Weak transcription	Small Intestine	intestine
42	chr2:152303400-152319000	Weak transcription	Fetal Brain Male	brain
43	chr2:152303400-152326400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr2:152304800-152319000	Weak transcription	Ovary	ovary
45	chr2:152304800-152319200	Weak transcription	Psoas Muscle	Psoas
46	chr2:152304800-152322800	Strong transcription	Osteobl	bone
47	chr2:152304800-152354000	Weak transcription	Spleen	Spleen
48	chr2:152305000-152318000	Weak transcription	Lung	lung
49	chr2:152306200-152322800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr2:152306400-152324800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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