Variant report

Variant	rs60685879
Chromosome Location	chr12:8299261-8299262
allele	A/C
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	POLR2A	chr12:8298469-8299268	Gliobla	brain:	n/a	n/a
2	CTCF	chr12:8299120-8299270	AoAF	blood vessel:	n/a	n/a
3	CTCF	chr12:8299180-8299330	HAc	cerebellar:	n/a	n/a
4	CTCF	chr12:8299240-8299390	WERI-Rb-1	eye:	n/a	n/a
5	POLR2A	chr12:8298821-8299305	ProgFib	skin:	n/a	n/a

Variant related genes	Relation type
GCSHP4	TF binding region

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11043787	1.00[EUR][1000 genomes]
rs12297901	1.00[EUR][1000 genomes]
rs12304428	1.00[EUR][1000 genomes]
rs57972054	1.00[EUR][1000 genomes]
rs60833337	1.00[EUR][1000 genomes]
rs73246124	1.00[EUR][1000 genomes]
rs73246126	1.00[EUR][1000 genomes]
rs9669736	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1048545	chr12:7778760-8608231	Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
2	nsv541368	chr12:7778760-8608231	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	esv1795892	chr12:7856819-8508693	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
4	esv2758292	chr12:7856819-8623987	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	esv2759877	chr12:7856819-8623987	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv428270	chr12:7856819-8623987	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
7	esv1793572	chr12:7995827-8568422	Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
8	nsv916941	chr12:8003501-8608220	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	86 gene(s)	inside rSNPs	diseases
9	nsv1040958	chr12:8177050-8309724	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
10	nsv541396	chr12:8177050-8309724	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
11	nsv430460	chr12:8225225-8388656	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv1040302	chr12:8245364-8695612	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
13	nsv541397	chr12:8245364-8695612	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
14	esv1796538	chr12:8276546-8508693	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv427902	chr12:8276546-8623987	Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
16	esv2757488	chr12:8280755-8580804	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	esv1800691	chr12:8295128-8379865	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:8295200-8306400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr12:8298000-8299400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:8298200-8299400	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr12:8298200-8299400	Enhancers	H1 Cell Line	embryonic stem cell
5	chr12:8298200-8299400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:8298200-8299400	Enhancers	HUES48 Cell Line	embryonic stem cell
7	chr12:8298200-8299400	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr12:8298200-8299400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:8298200-8299400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr12:8298200-8299400	Flanking Active TSS	Brain Anterior Caudate	brain
11	chr12:8298200-8299400	Enhancers	Placenta	Placenta
12	chr12:8298200-8299400	Flanking Active TSS	HSMMtube	muscle
13	chr12:8298200-8299600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr12:8298400-8299400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:8298400-8299400	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr12:8298400-8299400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr12:8298400-8299400	Flanking Active TSS	Brain Substantia Nigra	brain
18	chr12:8298400-8299400	Bivalent Enhancer	Left Ventricle	heart
19	chr12:8298400-8299400	Flanking Active TSS	HSMM	muscle
20	chr12:8298400-8299400	Flanking Active TSS	NHDF-Ad	bronchial
21	chr12:8298400-8299400	Flanking Active TSS	Osteobl	bone
22	chr12:8298400-8299600	Enhancers	Fetal Muscle Leg	muscle
23	chr12:8298600-8299400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:8298600-8299400	Active TSS	Stomach Smooth Muscle	stomach
25	chr12:8298800-8299400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:8298800-8299400	Active TSS	Colonic Mucosa	Colon
27	chr12:8298800-8299400	Flanking Active TSS	NHLF	lung
28	chr12:8298800-8299600	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr12:8299000-8299400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr12:8299000-8299400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr12:8299000-8299400	Flanking Active TSS	Brain Cingulate Gyrus	brain
32	chr12:8299000-8299400	Enhancers	Brain Germinal Matrix	brain
33	chr12:8299000-8299400	Active TSS	Fetal Lung	lung
34	chr12:8299000-8299400	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr12:8299000-8299600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:8299200-8299400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
37	chr12:8299200-8299400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:8299200-8299400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr12:8299200-8299400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:8299200-8299400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr12:8299200-8299400	Enhancers	Adipose Nuclei	Adipose
42	chr12:8299200-8299400	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr12:8299200-8299400	Flanking Active TSS	Brain Hippocampus Middle	brain
44	chr12:8299200-8299600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr12:8299200-8299600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr12:8299200-8299600	Enhancers	Right Atrium	heart

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