Variant report

Variant	rs60715949
Chromosome Location	chr12:32272916-32272917
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:32264689..32269066-chr12:32271365..32275666,5	K562	blood:
2	chr12:32266483..32268686-chr12:32270377..32273170,2	MCF-7	breast:
3	chr12:32270760..32273640-chr12:32274008..32276299,2	K562	blood:
4	chr12:32258592..32261102-chr12:32271397..32273435,2	MCF-7	breast:
5	chr12:32270889..32273201-chr12:32278383..32279888,2	K562	blood:
6	chr12:32260649..32262291-chr12:32271936..32273601,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257530	Chromatin interaction
ENSG00000151746	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs60284547	0.83[AFR][1000 genomes]
rs61653322	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73306287	0.92[AFR][1000 genomes]
rs7977387	0.83[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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32261200-32277600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr12:32261200-32277600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:32261400-32273800	Weak transcription	Fetal Thymus	thymus
4	chr12:32262200-32273200	Weak transcription	Small Intestine	intestine
5	chr12:32262200-32275600	Weak transcription	Thymus	Thymus
6	chr12:32262400-32287400	Weak transcription	Primary T cells from cord blood	blood
7	chr12:32262400-32290200	Weak transcription	Primary B cells from cord blood	blood
8	chr12:32263200-32274000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:32263200-32287000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr12:32263600-32273200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:32268800-32287200	Weak transcription	Lung	lung
12	chr12:32269000-32273400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:32269000-32273400	Weak transcription	K562	blood
14	chr12:32269000-32277600	Weak transcription	Brain Substantia Nigra	brain
15	chr12:32269000-32277800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:32269000-32285400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:32269000-32286400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr12:32269000-32286400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr12:32269000-32287400	Weak transcription	Aorta	Aorta
20	chr12:32269000-32287400	Weak transcription	Spleen	Spleen
21	chr12:32269000-32340200	Weak transcription	Dnd41	blood
22	chr12:32269200-32273400	Weak transcription	Brain Angular Gyrus	brain
23	chr12:32269200-32277400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr12:32269200-32287000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:32269200-32287200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr12:32269400-32286800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:32269800-32273800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:32269800-32286400	Weak transcription	Brain Hippocampus Middle	brain
29	chr12:32270000-32273400	Weak transcription	Brain Anterior Caudate	brain
30	chr12:32270200-32273400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:32270400-32273200	Weak transcription	Hela-S3	cervix
32	chr12:32270400-32278200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr12:32270400-32279600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr12:32270600-32273200	Weak transcription	HSMM	muscle
35	chr12:32270600-32273400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr12:32270600-32273400	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr12:32270600-32273400	Weak transcription	NHDF-Ad	bronchial
38	chr12:32270600-32277600	Weak transcription	NHLF	lung
39	chr12:32270600-32278800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr12:32270600-32285800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:32270600-32287000	Weak transcription	HSMMtube	muscle
42	chr12:32270600-32287000	Weak transcription	HUVEC	blood vessel
43	chr12:32270600-32287200	Weak transcription	NHEK	skin
44	chr12:32271400-32273800	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr12:32271600-32273800	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr12:32272000-32273200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:32272000-32277600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr12:32272000-32288600	Weak transcription	Fetal Intestine Small	intestine
49	chr12:32272200-32273200	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr12:32272200-32273200	Enhancers	HUES64 Cell Line	embryonic stem cell

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