Variant report

Variant	rs60858026
Chromosome Location	chr12:121107543-121107544
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:121086713..121087372-chr12:121107159..121108129,2	MCF-7	breast:
2	chr12:121106092..121108586-chr12:121122971..121126312,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110917	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12311479	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12828810	0.93[ASN][1000 genomes]
rs12829722	0.93[ASN][1000 genomes]
rs2066938	0.93[ASN][1000 genomes]
rs2239758	0.87[ASN][1000 genomes]
rs3021337	0.87[ASN][1000 genomes]
rs3021338	0.82[ASN][1000 genomes]
rs34030695	0.93[ASN][1000 genomes]
rs34734847	0.90[ASN][1000 genomes]
rs35360964	0.88[ASN][1000 genomes]
rs35525135	1.00[ASN][1000 genomes]
rs35599677	1.00[ASN][1000 genomes]
rs35771722	0.93[ASN][1000 genomes]
rs3752531	0.90[ASN][1000 genomes]
rs3999408	0.87[ASN][1000 genomes]
rs55730005	0.90[ASN][1000 genomes]
rs56273049	0.90[ASN][1000 genomes]
rs57830821	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71454661	1.00[ASN][1000 genomes]
rs7306541	1.00[ASN][1000 genomes]
rs7313271	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv1045923	chr12:121082203-121146219	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121100000-121107600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:121104400-121108600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:121105800-121107600	Enhancers	H1 Cell Line	embryonic stem cell
4	chr12:121105800-121107600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr12:121105800-121108200	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr12:121105800-121108200	Enhancers	Primary B cells from cord blood	blood
7	chr12:121106000-121107600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:121106000-121109000	Enhancers	Primary B cells from peripheral blood	blood
9	chr12:121106200-121107600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr12:121106200-121107600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:121106200-121107600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:121106200-121107800	Enhancers	Cortex derived primary cultured neurospheres	brain
13	chr12:121106200-121108200	Enhancers	Fetal Intestine Small	intestine
14	chr12:121106400-121107800	Enhancers	Brain Hippocampus Middle	brain
15	chr12:121106400-121108000	Enhancers	Fetal Intestine Large	intestine
16	chr12:121106600-121107600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr12:121106600-121107600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr12:121106600-121107600	Enhancers	Brain Cingulate Gyrus	brain
19	chr12:121106600-121108200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr12:121106800-121107600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr12:121106800-121107600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
22	chr12:121106800-121107600	Enhancers	Stomach Mucosa	stomach
23	chr12:121106800-121107800	Enhancers	Fetal Stomach	stomach
24	chr12:121107000-121107600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:121107000-121107600	Enhancers	Adipose Nuclei	Adipose
26	chr12:121107000-121107600	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr12:121107000-121107600	Enhancers	A549	lung
28	chr12:121107000-121107600	Bivalent Enhancer	HepG2	liver
29	chr12:121107000-121107800	Enhancers	NHEK	skin
30	chr12:121107000-121108000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr12:121107000-121108200	Flanking Active TSS	GM12878-XiMat	blood
32	chr12:121107200-121107600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr12:121107200-121107600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
34	chr12:121107200-121107800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:121107200-121107800	Enhancers	Fetal Lung	lung
36	chr12:121107200-121108200	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr12:121107200-121108800	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr12:121107200-121108800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:121107200-121118200	Weak transcription	Left Ventricle	heart
40	chr12:121107400-121107600	Enhancers	Fetal Thymus	thymus
41	chr12:121107400-121107800	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr12:121107400-121107800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr12:121107400-121108000	Enhancers	Brain Germinal Matrix	brain
44	chr12:121107400-121108200	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr12:121107400-121108200	Enhancers	Fetal Kidney	kidney
46	chr12:121107400-121108400	Enhancers	Duodenum Mucosa	Duodenum
47	chr12:121107400-121108600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr12:121107400-121118200	Weak transcription	Fetal Muscle Leg	muscle
49	chr12:121107400-121123400	Weak transcription	Right Atrium	heart

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