Variant report

Variant	rs60284547
Chromosome Location	chr12:32270431-32270432
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:32266483..32268686-chr12:32270377..32273170,2	MCF-7	breast:
2	chr12:32260830..32263543-chr12:32269172..32271594,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs56172854	1.00[AMR][1000 genomes]
rs56969670	1.00[AMR][1000 genomes]
rs60715949	0.83[AFR][1000 genomes]
rs73306287	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73308369	1.00[AMR][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	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv898969	chr12:32224948-32375677	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1042317	chr12:32228872-32316774	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1041733	chr12:32247427-32312547	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32261200-32271200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:32261200-32277600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:32261200-32277600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:32261400-32273800	Weak transcription	Fetal Thymus	thymus
5	chr12:32262200-32271600	Weak transcription	Fetal Intestine Small	intestine
6	chr12:32262200-32273200	Weak transcription	Small Intestine	intestine
7	chr12:32262200-32275600	Weak transcription	Thymus	Thymus
8	chr12:32262400-32287400	Weak transcription	Primary T cells from cord blood	blood
9	chr12:32262400-32290200	Weak transcription	Primary B cells from cord blood	blood
10	chr12:32263200-32274000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr12:32263200-32287000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:32263600-32273200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:32264200-32272600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:32264400-32271600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:32267400-32270600	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr12:32267400-32270600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:32267600-32270600	Enhancers	NHDF-Ad	bronchial
18	chr12:32267600-32270600	Enhancers	NHLF	lung
19	chr12:32267800-32270600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:32267800-32270600	Enhancers	HSMM	muscle
21	chr12:32267800-32270600	Enhancers	HUVEC	blood vessel
22	chr12:32268000-32270600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr12:32268400-32270600	Enhancers	HSMMtube	muscle
24	chr12:32268600-32270600	Enhancers	Osteobl	bone
25	chr12:32268600-32271200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr12:32268600-32271400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr12:32268600-32271600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr12:32268600-32271600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr12:32268800-32270600	Enhancers	HMEC	breast
30	chr12:32268800-32271800	Weak transcription	Left Ventricle	heart
31	chr12:32268800-32272000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:32268800-32272600	Weak transcription	Right Atrium	heart
33	chr12:32268800-32287200	Weak transcription	Lung	lung
34	chr12:32269000-32270600	Enhancers	NHEK	skin
35	chr12:32269000-32271200	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr12:32269000-32271400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr12:32269000-32271400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr12:32269000-32271600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:32269000-32271600	Weak transcription	Fetal Brain Female	brain
40	chr12:32269000-32271600	Weak transcription	Fetal Stomach	stomach
41	chr12:32269000-32271800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr12:32269000-32271800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr12:32269000-32271800	Weak transcription	Esophagus	oesophagus
44	chr12:32269000-32272400	Weak transcription	GM12878-XiMat	blood
45	chr12:32269000-32272800	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:32269000-32273400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr12:32269000-32273400	Weak transcription	K562	blood
48	chr12:32269000-32277600	Weak transcription	Brain Substantia Nigra	brain
49	chr12:32269000-32277800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:32269000-32285400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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