Variant report

Variant	rs55665206
Chromosome Location	chr12:56443384-56443385
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:56433777..56443620-chr12:56502225..56514736,38	MCF-7	breast:
2	chr12:56434006..56443603-chr12:56507645..56514884,44	K562	blood:
3	chr12:56442718..56445165-chr12:56497582..56500384,2	MCF-7	breast:
4	chr12:56441074..56443653-chr12:56557896..56559421,2	K562	blood:
5	chr12:56433331..56443603-chr12:56506173..56514581,35	K562	blood:
6	chr12:56386787..56388837-chr12:56442198..56444594,2	MCF-7	breast:
7	chr12:56433908..56446518-chr12:56506026..56517165,55	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135482	Chromatin interaction
ENSG00000139641	Chromatin interaction
ENSG00000257553	Chromatin interaction
ENSG00000229117	Chromatin interaction
ENSG00000170515	Chromatin interaction
ENSG00000258345	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs55771348	0.84[AFR][1000 genomes]
rs59881826	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61644900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74091480	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74091489	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74091490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74091499	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051961	chr12:56262220-56629427	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS 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 target site	284 gene(s)	inside rSNPs	diseases
2	nsv832424	chr12:56275226-56466917	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
3	nsv1043988	chr12:56348185-56534900	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	189 gene(s)	inside rSNPs	diseases
4	nsv832427	chr12:56392545-56512774	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv1067906	chr12:56424828-56445284	Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56437000-56447200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:56437000-56472800	Weak transcription	Right Atrium	heart
3	chr12:56437800-56450000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr12:56439600-56443600	Weak transcription	Adipose Nuclei	Adipose
5	chr12:56439600-56443800	Weak transcription	NHDF-Ad	bronchial
6	chr12:56439600-56447200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:56439600-56448800	Weak transcription	HSMMtube	muscle
8	chr12:56439600-56449600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr12:56439800-56448600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr12:56440000-56445400	Weak transcription	Placenta	Placenta
11	chr12:56440000-56448600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:56440200-56446000	Weak transcription	HSMM	muscle
13	chr12:56440400-56443600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr12:56440400-56445600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr12:56440400-56448600	Weak transcription	HMEC	breast
16	chr12:56440600-56448400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr12:56440600-56448600	Weak transcription	A549	lung
18	chr12:56440800-56444400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:56440800-56454000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:56440800-56455600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr12:56441000-56443800	Weak transcription	Fetal Intestine Small	intestine
22	chr12:56441000-56445000	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr12:56441000-56446400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr12:56441000-56448400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:56441200-56444200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:56441200-56448600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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