Variant report

Variant	esv3409487
Chromosome Location	chr12:48529681-48530564
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	E2F4	chr12:48530062-48530186	MCF10A-Er-Src	breast:	n/a	n/a
2	MAFF	chr12:48530035-48530212	HepG2	liver:	n/a	n/a
3	MAFK	chr12:48530042-48530183	HepG2	liver:	n/a	chr12:48530092-48530107
4	MAFK	chr12:48530039-48530164	HepG2	liver:	n/a	chr12:48530092-48530107

No.	Distal block	Cell Line	Cell type
1	chr12:48518675..48521479-chr12:48527987..48530696,2	K562	blood:
2	chr12:48529206..48530822-chr12:48539347..48541084,2	MCF-7	breast:
3	chr12:48527797..48530620-chr12:48531013..48533171,2	MCF-7	breast:
4	chr12:48503303..48504914-chr12:48527767..48530328,2	MCF-7	breast:

Variant related genes	Relation type
PFKM	TF binding region
ENSG00000152556	chromatin interactions

Extended variants
information (count: 40 )
Associated
traits (count: 69 )

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs146399624	chr12:48529686-48529687	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs80140486	chr12:48529696-48529697	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs78294086	chr12:48529698-48529699	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs77966213	chr12:48529699-48529700	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs78099010	chr12:48529700-48529701	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs79336782	chr12:48529702-48529703	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs75261947	chr12:48529703-48529704	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs75333732	chr12:48529705-48529706	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs79751478	chr12:48529708-48529709	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs78575533	chr12:48529709-48529710	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs76706444	chr12:48529711-48529712	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs547953148	chr12:48529712-48529713	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs10219645	chr12:48529737-48529738	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
14	rs527625623	chr12:48529742-48529743	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs547662171	chr12:48529747-48529748	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs139739588	chr12:48529752-48529753	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs376196948	chr12:48529768-48529769	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs571628282	chr12:48529860-48529861	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs539391861	chr12:48529871-48529872	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs144488860	chr12:48529882-48529883	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs79485260	chr12:48529916-48529917	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs536074421	chr12:48529949-48529950	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs368012298	chr12:48529950-48529951	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs141041167	chr12:48529996-48529997	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs554311963	chr12:48530039-48530040	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs149907778	chr12:48530081-48530082	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs535046386	chr12:48530105-48530106	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs558385007	chr12:48530110-48530111	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs34996435	chr12:48530149-48530150	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs577969906	chr12:48530185-48530186	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs144924515	chr12:48530213-48530214	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs563463425	chr12:48530251-48530252	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs189692986	chr12:48530257-48530258	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs141985416	chr12:48530269-48530270	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs200454467	chr12:48530273-48530274	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs181737473	chr12:48530461-48530462	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs12817932	chr12:48530476-48530477	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs572621573	chr12:48530534-48530535	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs527480492	chr12:48530536-48530537	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs536443662	chr12:48530545-48530546	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:69)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Seminomas	18059402	CNVD
Wilms tumour	21544195	CNVD
Esophageal cancer	21851588	CNVD
Lung cancer	20668451	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Ewing''s sarcoma	21437220	CNVD
Testicular germ cell tumor	18059402	CNVD
Medulloblastoma	21979893	CNVD
Malaria	21533027	CNVD
Chronic lymphocytic leukemia	22228453	CNVD
Basal cell lymphoma	17053054	CNVD
Chronic lymphocytic leukemia	21670202	CNVD
Ewing''s sarcoma	17952124	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Neurodevelopmental disorder	22521361	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Renal cell carcinoma	18194544	CNVD
Breast cancer	21949216	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21637783	CNVD
Glioblastoma multiforme	21080181	CNVD
Renal cell carcinoma	19461508	CNVD
Burkitt''s lymphoma	18698080	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Gastrointestinal stromal cancer	20470368	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Hirschsprung''s Disease	21712996	CNVD
Lissencephaly	21572526	CNVD
Lung cancer	18438408	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Breast cancer	19602461	CNVD
Breast cancer	17899364	CNVD
Colorectal cancer	16272173	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Adenoid cystic carcinoma	18332873	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	18632612	CNVD
Follicular lymphoma	20505157	CNVD
Hepatocellular carcinoma	16750200	CNVD
Melanoma	18172304	CNVD
Metanephric adenoma	20802469	CNVD
Glioblastoma multiforme	17387387	CNVD
liposarcomas	17372913	CNVD
Non-small cell lung cancer	24170126	CNVD
Cancer	16751803	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Bladder cancer	21909424	CNVD
Multiple myeloma	16616336	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	17661082	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Anaplastic thyroid cancer	18753363	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Myelofibrosis	22110671	CNVD
Intracranial ependymoma	16609018	CNVD

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48514000-48536600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr12:48514000-48537200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:48515600-48535600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr12:48515800-48535600	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:48515800-48545600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:48516200-48545400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr12:48516200-48547200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr12:48516400-48535600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:48516400-48535800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr12:48516400-48542000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr12:48516400-48545000	Strong transcription	GM12878-XiMat	blood
12	chr12:48516400-48545400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:48516400-48545800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr12:48516400-48547200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:48516400-48547200	Strong transcription	Stomach Smooth Muscle	stomach
16	chr12:48516400-48547800	Strong transcription	Fetal Stomach	stomach
17	chr12:48516600-48536600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr12:48516600-48543200	Weak transcription	Stomach Mucosa	stomach
19	chr12:48516600-48545400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:48516600-48545600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr12:48516800-48530400	Strong transcription	Osteobl	bone
22	chr12:48516800-48547400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr12:48517600-48547400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr12:48518200-48529800	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr12:48518600-48547600	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr12:48519600-48547200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr12:48519800-48529800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr12:48520000-48545600	Strong transcription	Hela-S3	cervix
29	chr12:48520600-48529800	Strong transcription	Brain Germinal Matrix	brain
30	chr12:48520800-48547400	Strong transcription	Fetal Brain Female	brain
31	chr12:48522400-48534400	Weak transcription	NHDF-Ad	bronchial
32	chr12:48522600-48532800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr12:48522800-48530200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr12:48523200-48529800	Strong transcription	Fetal Intestine Large	intestine
35	chr12:48523400-48546600	Strong transcription	Fetal Muscle Leg	muscle
36	chr12:48523800-48530000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr12:48523800-48540400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:48523800-48547400	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:48524000-48536400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr12:48525000-48536400	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr12:48525000-48539800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:48525400-48536600	Weak transcription	Right Atrium	heart
43	chr12:48525600-48530200	Strong transcription	Left Ventricle	heart
44	chr12:48525600-48546200	Strong transcription	A549	lung
45	chr12:48525800-48535600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:48526200-48547600	Strong transcription	Adipose Nuclei	Adipose
47	chr12:48526400-48530000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr12:48526400-48540200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
49	chr12:48526400-48543600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr12:48527000-48536600	Weak transcription	Primary neutrophils fromperipheralblood	blood

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