Variant report

Variant	esv3693427
Chromosome Location	chr2:152303171-152320118
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:89)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:89 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:152308372-152308605	K562	blood:	n/a	n/a
2	CEBPB	chr2:152316008-152316181	IMR90	lung:	n/a	n/a
3	CTCF	chr2:152312600-152312750	Caco-2	colon:	n/a	n/a
4	CTCF	chr2:152318468-152318536	MCF-7	breast:	n/a	n/a
5	CUX1	chr2:152316046-152316127	GM12878	blood:	n/a	n/a
6	E2F4	chr2:152308094-152308294	MCF10A-Er-Src	breast:	n/a	n/a
7	E2F4	chr2:152311628-152311781	MCF10A-Er-Src	breast:	n/a	n/a
8	EP300	chr2:152308486-152308594	GM12878	blood:	n/a	n/a
9	FAM48A	chr2:152315887-152315905	GM12878	blood:	n/a	n/a
10	GATA3	chr2:152305143-152305412	SH-SY5Y	brain:	n/a	chr2:152305201-152305211
11	GATA3	chr2:152311387-152311787	SH-SY5Y	brain:	n/a	n/a
12	GATA3	chr2:152315959-152316026	SH-SY5Y	brain:	n/a	n/a
13	GATA3	chr2:152310529-152310914	SH-SY5Y	brain:	n/a	n/a
14	GATA3	chr2:152309177-152309376	SH-SY5Y	brain:	n/a	chr2:152309218-152309227
15	GTF2F1	chr2:152308145-152308171	K562	blood:	n/a	n/a
16	IRF1	chr2:152306949-152306961	K562	blood:	n/a	n/a
17	JUN	chr2:152309117-152309306	HepG2	liver:	n/a	chr2:152309191-152309204
18	JUND	chr2:152309171-152309325	HepG2	liver:	n/a	n/a
19	MAFF	chr2:152319543-152319564	HepG2	liver:	n/a	n/a
20	MYC	chr2:152306844-152306849	H1-hESC	embryonic stem cell:	n/a	n/a
21	NFYA	chr2:152312693-152312890	GM12878	blood:	n/a	n/a
22	POLR2A	chr2:152318487-152318492	K562	blood:	n/a	n/a
23	POLR2A	chr2:152313633-152313726	MCF10A-Er-Src	breast:	n/a	n/a
24	POLR2A	chr2:152312365-152312394	MCF-7	breast:	n/a	n/a
25	POLR2A	chr2:152308714-152308760	GM12878	blood:	n/a	n/a
26	POLR2A	chr2:152305993-152306081	K562	blood:	n/a	n/a
27	POLR2A	chr2:152305361-152305444	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr2:152312298-152312341	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr2:152312632-152312907	K562	blood:	n/a	n/a
30	POLR2A	chr2:152312322-152312379	K562	blood:	n/a	n/a
31	POLR2A	chr2:152309131-152309159	GM12878	blood:	n/a	n/a
32	POLR2A	chr2:152313200-152313377	Hela-S3	cervix:	n/a	n/a
33	POLR2A	chr2:152314203-152314403	MCF10A-Er-Src	breast:	n/a	n/a
34	POLR2A	chr2:152313661-152313816	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr2:152318481-152318500	MCF-7	breast:	n/a	n/a
36	POLR2A	chr2:152307798-152307809	HepG2	liver:	n/a	n/a
37	POLR2A	chr2:152318431-152318545	A549	lung:	n/a	n/a
38	POLR2A	chr2:152319969-152320261	HepG2	liver:	n/a	n/a
39	POLR2A	chr2:152317281-152317431	MCF-7	breast:	n/a	n/a
40	POLR2A	chr2:152313366-152313441	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr2:152311431-152311537	MCF10A-Er-Src	breast:	n/a	n/a
42	POLR2A	chr2:152307475-152308089	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr2:152312748-152313103	K562	blood:	n/a	n/a
44	POLR2A	chr2:152318400-152318552	MCF-7	breast:	n/a	n/a
45	POLR2A	chr2:152319814-152320932	K562	blood:	n/a	n/a
46	POLR2A	chr2:152312501-152312522	H1-hESC	embryonic stem cell:	n/a	n/a
47	POLR2A	chr2:152310117-152310533	K562	blood:	n/a	n/a
48	POLR2A	chr2:152305182-152305751	K562	blood:	n/a	n/a
49	POLR2A	chr2:152308807-152308814	MCF-7	breast:	n/a	n/a
50	POLR2A	chr2:152312277-152312294	MCF-7	breast:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:152302369..152305079-chr2:152310226..152311747,2	K562	blood:
2	chr2:152310372..152313299-chr2:152315100..152317140,2	K562	blood:
3	chr2:152287979..152289902-chr2:152304216..152306739,2	K562	blood:
4	chr2:152306334..152309706-chr2:152310783..152314645,4	K562	blood:
5	chr2:152306334..152309706-chr2:152310783..152314645,4	K562	blood:
6	chr2:152293439..152294985-chr2:152313987..152316926,2	K562	blood:
7	chr2:152302369..152305079-chr2:152310226..152311747,2	K562	blood:
8	chr2:152303193..152305342-chr2:152320808..152322922,2	K562	blood:
9	chr2:152310372..152313299-chr2:152315100..152317140,2	K562	blood:
10	chr2:152315322..152317556-chr2:152319590..152322026,2	K562	blood:
11	chr2:152280542..152282087-chr2:152301597..152303265,2	K562	blood:
12	chr2:152316997..152319818-chr2:152338220..152340859,2	K562	blood:

No data

Variant related genes	Relation type
RIF1	TF binding region
ENSG00000080345	chromatin interactions

Extended variants
information (count: 763 )
Associated
traits (count: 48 )

Variant overlapped rSNPs/rCNVs (count:763 , 50 per page) page: 1 2 3 4 5 6 7 ... 16

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2432941	chr2:152303171-152303172	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs563913377	chr2:152303176-152303177	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs548108443	chr2:152303200-152303201	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs532973920	chr2:152303232-152303233	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs148463669	chr2:152303275-152303276	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs142556285	chr2:152303292-152303293	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs190752193	chr2:152303306-152303307	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs549592825	chr2:152303308-152303309	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs145981716	chr2:152303314-152303315	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs569814371	chr2:152303381-152303382	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs537991397	chr2:152303425-152303426	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs535319611	chr2:152303440-152303441	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs550236243	chr2:152303446-152303447	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs558451024	chr2:152303448-152303449	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs71403169	chr2:152303459-152303460	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs201521835	chr2:152303460-152303461	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs578203154	chr2:152303461-152303462	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs537417466	chr2:152303463-152303464	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs558602853	chr2:152303473-152303474	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs2432942	chr2:152303480-152303481	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
21	rs565215545	chr2:152303496-152303497	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs573751240	chr2:152303526-152303527	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs542760117	chr2:152303527-152303528	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs183321322	chr2:152303529-152303530	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs571947291	chr2:152303548-152303549	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs55982073	chr2:152303551-152303552	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs564379496	chr2:152303650-152303651	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs553708142	chr2:152303674-152303675	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs62169383	chr2:152303693-152303694	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs533084721	chr2:152303703-152303704	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs111804938	chr2:152303718-152303719	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs376335199	chr2:152303737-152303738	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs532728142	chr2:152303751-152303752	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs528985075	chr2:152303767-152303768	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs16830040	chr2:152303807-152303808	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs11689442	chr2:152303809-152303810	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs535200558	chr2:152303819-152303820	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs536518700	chr2:152303840-152303841	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs116664667	chr2:152303847-152303848	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs140725440	chr2:152303852-152303853	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs111307408	chr2:152303872-152303873	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs551951884	chr2:152303892-152303893	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs547935443	chr2:152303911-152303912	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs150028168	chr2:152303924-152303925	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs370700993	chr2:152303991-152303992	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs554892345	chr2:152304006-152304007	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs573738863	chr2:152304018-152304019	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs6726149	chr2:152304041-152304042	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs536334331	chr2:152304044-152304045	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs372857168	chr2:152304069-152304070	Strong transcription Weak transcription	Chromatin interactive region	1 gene(s)	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:478 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

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	chr2:152275800-152310000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:152278600-152310200	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr2:152282600-152313800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr2:152282800-152315800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:152283800-152334000	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr2:152284200-152327000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:152284600-152327800	Strong transcription	HepG2	liver
29	chr2:152285000-152303400	Strong transcription	Osteobl	bone
30	chr2:152285000-152314200	Strong transcription	HMEC	breast
31	chr2:152285000-152327800	Strong transcription	Placenta	Placenta
32	chr2:152285200-152306200	Strong transcription	Liver	Liver
33	chr2:152285200-152306200	Strong transcription	HSMM	muscle
34	chr2:152285200-152315400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr2:152285200-152327600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr2:152285200-152327800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr2:152285200-152331200	Strong transcription	Adipose Nuclei	Adipose
38	chr2:152285600-152308400	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:152288800-152304200	Weak transcription	Colonic Mucosa	Colon
40	chr2:152288800-152309200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:152290600-152323400	Weak transcription	Aorta	Aorta
42	chr2:152291400-152314600	Strong transcription	Primary B cells from peripheral blood	blood
43	chr2:152291800-152312400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:152291800-152321000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr2:152292200-152307400	Strong transcription	Fetal Intestine Small	intestine
46	chr2:152293000-152313000	Strong transcription	A549	lung
47	chr2:152293600-152312000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr2:152293800-152304600	Strong transcription	NH-A	brain
49	chr2:152294000-152306200	Strong transcription	Fetal Lung	lung
50	chr2:152294400-152321400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links