Variant report

Variant	rs61937062
Chromosome Location	chr12:64282930-64282931
allele	A/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	NR3C1	chr12:64282666-64283083	A549	lung:	n/a	n/a
2	FOSL2	chr12:64282778-64284172	A549	lung:	n/a	chr12:64283755-64283764 chr12:64283258-64283265 chr12:64283256-64283265
3	NR3C1	chr12:64282450-64283279	A549	lung:	n/a	chr12:64283082-64283089
4	FOXA1	chr12:64282729-64283085	A549	lung:	n/a	n/a
5	CREB1	chr12:64282641-64283186	A549	lung:	n/a	n/a
6	EP300	chr12:64282867-64284337	A549	lung:	n/a	chr12:64283256-64283265
7	TCF12	chr12:64282875-64284563	A549	lung:	n/a	n/a
8	NR3C1	chr12:64282587-64283148	A549	lung:	n/a	chr12:64283082-64283089
9	FOXA1	chr12:64282647-64283038	A549	lung:	n/a	n/a
10	NR3C1	chr12:64282534-64283137	A549	lung:	n/a	chr12:64283082-64283089
11	NR3C1	chr12:64282618-64283179	A549	lung:	n/a	chr12:64283082-64283089
12	POLR2A	chr12:64282869-64283109	A549	lung:	n/a	n/a
13	USF1	chr12:64282663-64283109	A549	lung:	n/a	n/a
14	NR3C1	chr12:64282593-64283152	A549	lung:	n/a	chr12:64283082-64283089

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:64254946..64256892-chr12:64282588..64284962,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256399	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs11175203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11175204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2251126	1.00[ASN][1000 genomes]
rs2954910	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55965024	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56206744	1.00[ASN][1000 genomes]
rs61933087	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933089	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933092	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61935958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937060	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937064	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61937066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73113978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73126646	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73313480	0.81[EUR][1000 genomes];1.00[ASN][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	nsv1046836	chr12:63392391-64377169	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv832442	chr12:64228071-64442771	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64246200-64286400	Weak transcription	Fetal Brain Female	brain
2	chr12:64250200-64287200	Weak transcription	Aorta	Aorta
3	chr12:64258800-64286200	Weak transcription	Fetal Intestine Small	intestine
4	chr12:64263800-64289200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:64264000-64294400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr12:64274800-64292800	Weak transcription	Right Atrium	heart
7	chr12:64275000-64285000	Weak transcription	Right Ventricle	heart
8	chr12:64276800-64284800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:64277000-64286400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr12:64277000-64291600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:64277200-64285000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:64277200-64285200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:64277200-64286200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr12:64277200-64286400	Weak transcription	Fetal Heart	heart
15	chr12:64277200-64286600	Weak transcription	Fetal Muscle Leg	muscle
16	chr12:64277200-64299400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:64277800-64289400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr12:64278600-64289800	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:64279600-64291200	Weak transcription	Fetal Stomach	stomach
20	chr12:64279800-64286400	Weak transcription	Brain Germinal Matrix	brain
21	chr12:64281000-64285200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr12:64281400-64283600	Enhancers	Brain Anterior Caudate	brain
23	chr12:64281800-64284200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr12:64282000-64283800	Enhancers	NHDF-Ad	bronchial
25	chr12:64282000-64284200	Enhancers	Adipose Nuclei	Adipose
26	chr12:64282200-64283400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:64282400-64283200	Enhancers	HSMMtube	muscle
28	chr12:64282400-64283200	Enhancers	NHLF	lung
29	chr12:64282400-64284000	Enhancers	Brain Angular Gyrus	brain
30	chr12:64282400-64284200	Enhancers	Muscle Satellite Cultured Cells	--
31	chr12:64282400-64286400	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:64282600-64283000	Enhancers	Brain Cingulate Gyrus	brain
33	chr12:64282600-64283000	Enhancers	Fetal Muscle Trunk	muscle
34	chr12:64282600-64283200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr12:64282600-64283200	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr12:64282600-64283200	Enhancers	Gastric	stomach
37	chr12:64282600-64283200	Enhancers	Left Ventricle	heart
38	chr12:64282600-64283200	Enhancers	Stomach Mucosa	stomach
39	chr12:64282600-64283200	Enhancers	HMEC	breast
40	chr12:64282600-64283200	Enhancers	NHEK	skin
41	chr12:64282600-64283400	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr12:64282600-64283400	Enhancers	Brain Substantia Nigra	brain
43	chr12:64282600-64283400	Enhancers	Pancreas	Pancrea
44	chr12:64282600-64283400	Flanking Active TSS	A549	lung
45	chr12:64282600-64283800	Enhancers	HepG2	liver
46	chr12:64282600-64284000	Enhancers	Osteobl	bone
47	chr12:64282600-64284200	Enhancers	Placenta	Placenta
48	chr12:64282600-64284200	Enhancers	HSMM	muscle
49	chr12:64282600-64284600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:64282600-64285000	Enhancers	Fetal Intestine Large	intestine

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