Variant report

Variant	rs7485961
Chromosome Location	chr12:48157931-48157932
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:48151483..48157972-chr12:48164331..48169743,9	K562	blood:
2	chr12:48134751..48136933-chr12:48155873..48158098,2	K562	blood:
3	chr12:48151685..48153406-chr12:48157553..48160155,2	K562	blood:
4	chr12:48144320..48146490-chr12:48155859..48158301,2	MCF-7	breast:
5	chr12:48135968..48137533-chr12:48157491..48159141,2	MCF-7	breast:
6	chr12:48156301..48158741-chr12:48170596..48173234,2	MCF-7	breast:
7	chr12:48142143..48143879-chr12:48156627..48159183,2	MCF-7	breast:
8	chr12:48153850..48156955-chr12:48157657..48160878,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000079337	Chromatin interaction
ENSG00000211584	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11608804	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3759408	0.87[EUR][1000 genomes]
rs7138076	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73105899	0.88[EUR][1000 genomes]
rs73107911	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48153400-48159200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:48153400-48161800	Weak transcription	Aorta	Aorta
3	chr12:48153600-48159000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:48153600-48159400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:48153600-48159800	Weak transcription	Brain Germinal Matrix	brain
6	chr12:48153600-48161000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr12:48153600-48161200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:48153600-48161200	Weak transcription	NHDF-Ad	bronchial
9	chr12:48153600-48162000	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr12:48153600-48162200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:48153600-48162800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr12:48153600-48166000	Weak transcription	Brain Angular Gyrus	brain
13	chr12:48153600-48166200	Weak transcription	Brain Anterior Caudate	brain
14	chr12:48153600-48166400	Weak transcription	Fetal Brain Female	brain
15	chr12:48153600-48166800	Weak transcription	Gastric	stomach
16	chr12:48153800-48161400	Weak transcription	K562	blood
17	chr12:48153800-48162000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr12:48153800-48162200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr12:48153800-48165600	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:48153800-48165800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr12:48153800-48166200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr12:48154200-48161200	Weak transcription	A549	lung
23	chr12:48154200-48161200	Weak transcription	Hela-S3	cervix
24	chr12:48154400-48159000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:48154400-48159400	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:48154400-48165800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr12:48155800-48159200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:48156000-48158200	Enhancers	Fetal Kidney	kidney
29	chr12:48156400-48158200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr12:48156400-48159800	Enhancers	Right Ventricle	heart
31	chr12:48156400-48160200	Enhancers	Fetal Heart	heart
32	chr12:48156400-48161600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:48156800-48160200	Enhancers	HMEC	breast
34	chr12:48156800-48163400	Enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr12:48157000-48158000	Enhancers	Primary hematopoietic stem cells	blood
36	chr12:48157200-48158000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr12:48157200-48158000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr12:48157200-48158000	Enhancers	Adipose Nuclei	Adipose
39	chr12:48157200-48158200	Enhancers	Primary B cells from cord blood	blood
40	chr12:48157200-48158600	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr12:48157200-48158600	Enhancers	Esophagus	oesophagus
42	chr12:48157200-48162400	Enhancers	Fetal Thymus	thymus
43	chr12:48157400-48158000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:48157400-48158000	Enhancers	GM12878-XiMat	blood
45	chr12:48157400-48158400	Enhancers	Primary B cells from peripheral blood	blood
46	chr12:48157400-48158400	Enhancers	Stomach Smooth Muscle	stomach
47	chr12:48157400-48158400	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr12:48157600-48158200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr12:48157600-48158200	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr12:48157600-48158400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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