Variant report

Variant	rs57072278
Chromosome Location	chr12:118491667-118491668
allele	C/G
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	ARID3A	chr12:118491285-118491863	HepG2	liver:	n/a	n/a
2	TEAD4	chr12:118491378-118491822	HepG2	liver:	n/a	chr12:118491620-118491629 chr12:118491627-118491636
3	HNF4A	chr12:118491492-118491682	HepG2	liver:	n/a	chr12:118491636-118491651 chr12:118491636-118491651 chr12:118491636-118491651
4	POLR2A	chr12:118489880-118491712	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:118490377..118492216-chr12:118538475..118541095,2	MCF-7	breast:
2	chr12:118405716..118409105-chr12:118489157..118492188,4	MCF-7	breast:
3	chr12:118491454..118494389-chr12:118600464..118603193,2	K562	blood:
4	chr12:118480642..118483852-chr12:118489666..118492317,3	K562	blood:
5	chr12:118490804..118495433-chr12:118539497..118543131,5	MCF-7	breast:

Variant related genes	Relation type
WSB2	TF binding region
ENSG00000176834	Chromatin interaction
ENSG00000171435	Chromatin interaction
ENSG00000176871	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10507288	1.00[AMR][1000 genomes]
rs16948163	1.00[AMR][1000 genomes]
rs16948168	1.00[AMR][1000 genomes]
rs16948171	1.00[AMR][1000 genomes]
rs16948173	1.00[AMR][1000 genomes]
rs16948189	1.00[AMR][1000 genomes]
rs16948195	1.00[AMR][1000 genomes]
rs16948199	1.00[AMR][1000 genomes]
rs16948225	1.00[AMR][1000 genomes]
rs16948241	1.00[AMR][1000 genomes]
rs55965100	1.00[AMR][1000 genomes]
rs56210304	1.00[AMR][1000 genomes]
rs56319724	1.00[AMR][1000 genomes]
rs56743940	1.00[AMR][1000 genomes]
rs56819745	1.00[AMR][1000 genomes]
rs57170485	1.00[AMR][1000 genomes]
rs5745863	1.00[AMR][1000 genomes]
rs57865918	1.00[AMR][1000 genomes]
rs58340234	1.00[AMR][1000 genomes]
rs59036425	1.00[AMR][1000 genomes]
rs59151662	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59271270	0.92[AFR][1000 genomes]
rs59360632	1.00[AMR][1000 genomes]
rs60160994	1.00[AMR][1000 genomes]
rs7300357	0.92[AFR][1000 genomes]
rs7963735	1.00[AMR][1000 genomes]
rs7963880	1.00[AMR][1000 genomes]
rs7977168	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1795965	chr12:118463329-118504859	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118455200-118497400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:118476400-118497600	Weak transcription	Fetal Brain Male	brain
3	chr12:118477000-118497600	Weak transcription	Primary B cells from cord blood	blood
4	chr12:118477200-118491800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:118480800-118497200	Weak transcription	Fetal Kidney	kidney
6	chr12:118481000-118493000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:118481000-118498200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr12:118481200-118497600	Weak transcription	Fetal Thymus	thymus
9	chr12:118481400-118497800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:118482600-118497600	Weak transcription	Primary B cells from peripheral blood	blood
11	chr12:118482600-118497600	Weak transcription	Primary hematopoietic stem cells	blood
12	chr12:118482800-118497200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr12:118487200-118493000	Weak transcription	K562	blood
14	chr12:118489400-118493000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr12:118489400-118497200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:118489600-118491800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:118489600-118493000	Weak transcription	Dnd41	blood
18	chr12:118489600-118494200	Enhancers	Left Ventricle	heart
19	chr12:118489600-118494200	Enhancers	HUVEC	blood vessel
20	chr12:118489600-118496800	Weak transcription	GM12878-XiMat	blood
21	chr12:118489600-118497200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:118489800-118491800	Enhancers	Duodenum Smooth Muscle	Duodenum
23	chr12:118489800-118491800	Enhancers	HSMMtube	muscle
24	chr12:118489800-118491800	Enhancers	NHLF	lung
25	chr12:118490200-118491800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr12:118490200-118491800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:118490200-118494200	Enhancers	Primary T cells fromperipheralblood	blood
28	chr12:118490400-118491800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr12:118490400-118491800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr12:118490400-118491800	Enhancers	HMEC	breast
31	chr12:118490400-118492000	Enhancers	Fetal Intestine Small	intestine
32	chr12:118490400-118493200	Enhancers	Fetal Intestine Large	intestine
33	chr12:118490400-118497400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:118490400-118497400	Enhancers	Liver	Liver
35	chr12:118490600-118491800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:118490600-118491800	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr12:118490600-118491800	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr12:118490600-118496800	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr12:118490600-118497200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr12:118490600-118497200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr12:118490600-118497200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr12:118490600-118497400	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr12:118490800-118491800	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr12:118490800-118491800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:118490800-118497400	Weak transcription	Primary T cells from cord blood	blood
46	chr12:118490800-118497800	Weak transcription	Thymus	Thymus
47	chr12:118491000-118491800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr12:118491000-118491800	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr12:118491000-118491800	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr12:118491000-118491800	Enhancers	Hela-S3	cervix

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