Variant report

Variant	rs370640628
Chromosome Location	chr12:48153815-48153816
allele	-/TG
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	chr12:48151992-48153868	SK-N-SH	brain:	n/a	chr12:48152289-48152302 chr12:48153350-48153368 chr12:48153353-48153363 chr12:48153189-48153202
2	STAT3	chr12:48153655-48153855	MCF10A-Er-Src	breast:	n/a	n/a
3	NFIC	chr12:48151059-48153984	ECC-1	luminal epithelium:	n/a	n/a
4	EP300	chr12:48150750-48153828	ECC-1	luminal epithelium:	n/a	chr12:48153612-48153626 chr12:48153099-48153115 chr12:48152632-48152648 chr12:48152971-48152981 chr12:48153189-48153205
5	CTCF	chr12:48152401-48153836	A549	lung:	n/a	chr12:48153350-48153368 chr12:48153353-48153363 chr12:48153189-48153202
6	CTCF	chr12:48153780-48153930	NHDF-neo	bronchial:	n/a	n/a
7	CTCF	chr12:48153800-48153950	NHLF	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr12:48153014..48156848-chr12:48203481..48206772,3	K562	blood:
2	chr12:48151756..48154631-chr12:48166805..48168592,3	MCF-7	breast:
3	chr12:48137493..48138878-chr12:48152464..48153861,18	MCF-7	breast:
4	chr12:48151483..48157972-chr12:48164331..48169743,9	K562	blood:
5	chr12:48115323..48118041-chr12:48153022..48154829,2	MCF-7	breast:
6	chr12:48138994..48139580-chr12:48153253..48153916,2	MCF-7	breast:
7	chr12:48111105..48111630-chr12:48153104..48154150,3	MCF-7	breast:
8	chr12:48151782..48154257-chr12:48166848..48168699,2	MCF-7	breast:
9	chr12:48134835..48139182-chr12:48152118..48155732,5	MCF-7	breast:
10	chr12:48097907..48100262-chr12:48151350..48154397,3	K562	blood:
11	chr12:48152241..48154431-chr12:48164400..48166889,3	K562	blood:

Variant related genes	Relation type
RAPGEF3	TF binding region
ENSG00000211584	Chromatin interaction
ENSG00000257433	Chromatin interaction
ENSG00000111405	Chromatin interaction
ENSG00000079337	Chromatin interaction
ENSG00000005175	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1813565	chr12:48097697-48177858	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv470289	chr12:48110551-48180508	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1051941	chr12:48114026-48233128	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
4	nsv541487	chr12:48114026-48233128	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	75 gene(s)	inside rSNPs	diseases
5	nsv1036804	chr12:48114026-48287048	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
6	nsv524967	chr12:48119562-48215180	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv527470	chr12:48119955-48190166	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
8	nsv899059	chr12:48129344-48215180	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
9	nsv1052034	chr12:48146633-48287048	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
10	esv3436585	chr12:48153518-48153869	Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48151000-48154200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr12:48153000-48154400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:48153200-48154400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr12:48153400-48154200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:48153400-48154200	Enhancers	Primary T killer memory cells from peripheral blood	blood
6	chr12:48153400-48154200	Enhancers	Stomach Mucosa	stomach
7	chr12:48153400-48156000	Weak transcription	Fetal Kidney	kidney
8	chr12:48153400-48159200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:48153400-48161800	Weak transcription	Aorta	Aorta
10	chr12:48153600-48154000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr12:48153600-48154000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:48153600-48154000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr12:48153600-48154000	Enhancers	Fetal Intestine Small	intestine
14	chr12:48153600-48154000	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr12:48153600-48154200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
16	chr12:48153600-48154200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:48153600-48154200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:48153600-48154400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr12:48153600-48154400	Enhancers	Brain Cingulate Gyrus	brain
20	chr12:48153600-48154400	Enhancers	Esophagus	oesophagus
21	chr12:48153600-48154400	Enhancers	Fetal Muscle Leg	muscle
22	chr12:48153600-48154400	Enhancers	Placenta Amnion	Placenta Amnion
23	chr12:48153600-48155800	Weak transcription	Ovary	ovary
24	chr12:48153600-48156000	Weak transcription	Spleen	Spleen
25	chr12:48153600-48156800	Weak transcription	Left Ventricle	heart
26	chr12:48153600-48157000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:48153600-48157000	Weak transcription	Lung	lung
28	chr12:48153600-48157200	Weak transcription	Pancreas	Pancrea
29	chr12:48153600-48157200	Weak transcription	Right Atrium	heart
30	chr12:48153600-48157400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:48153600-48157400	Weak transcription	Fetal Lung	lung
32	chr12:48153600-48157400	Weak transcription	GM12878-XiMat	blood
33	chr12:48153600-48159000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:48153600-48159400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:48153600-48159800	Weak transcription	Brain Germinal Matrix	brain
36	chr12:48153600-48161000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr12:48153600-48161200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:48153600-48161200	Weak transcription	NHDF-Ad	bronchial
39	chr12:48153600-48162000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr12:48153600-48162200	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr12:48153600-48162800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr12:48153600-48166000	Weak transcription	Brain Angular Gyrus	brain
43	chr12:48153600-48166200	Weak transcription	Brain Anterior Caudate	brain
44	chr12:48153600-48166400	Weak transcription	Fetal Brain Female	brain
45	chr12:48153600-48166800	Weak transcription	Gastric	stomach
46	chr12:48153800-48154000	Enhancers	Primary B cells from cord blood	blood
47	chr12:48153800-48154000	Enhancers	Primary hematopoietic stem cells	blood
48	chr12:48153800-48154000	Enhancers	Fetal Heart	heart
49	chr12:48153800-48154000	Enhancers	Fetal Thymus	thymus
50	chr12:48153800-48154000	Enhancers	Skeletal Muscle Male	skeletal muscle

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