Variant report

Variant	rs17860346
Chromosome Location	chr12:51726824-51726825
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51715738..51718672-chr12:51724028..51726868,2	MCF-7	breast:
2	chr12:51724277..51726294-chr12:51726344..51728218,2	MCF-7	breast:
3	chr12:51726670..51729630-chr12:51730629..51732198,2	K562	blood:

Variant related genes	Relation type
ENSG00000110934	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs12578771	0.90[EUR][1000 genomes]
rs12580302	0.85[EUR][1000 genomes]
rs12581282	0.90[EUR][1000 genomes]
rs17860277	0.95[AFR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17860287	0.95[AFR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17860296	0.95[AFR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17860302	0.95[AFR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17860364	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17860365	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17860378	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17860380	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17860382	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17860387	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782470	0.83[EUR][1000 genomes]
rs3858637	0.81[EUR][1000 genomes]
rs4761870	0.81[EUR][1000 genomes]
rs55901988	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57484374	0.85[EUR][1000 genomes]
rs58213562	0.90[EUR][1000 genomes]
rs58673573	0.87[EUR][1000 genomes]
rs60641385	0.90[EUR][1000 genomes]
rs60797544	0.86[EUR][1000 genomes]
rs61172662	0.85[EUR][1000 genomes]
rs61380773	0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61570206	0.90[EUR][1000 genomes]
rs61605107	0.87[EUR][1000 genomes]
rs7138394	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7308177	0.82[EUR][1000 genomes]
rs7311196	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7312857	0.87[EUR][1000 genomes]
rs7316221	0.82[EUR][1000 genomes]
rs7316301	0.87[EUR][1000 genomes]
rs7316604	0.82[EUR][1000 genomes]
rs74093810	0.82[EUR][1000 genomes]
rs74093814	0.82[EUR][1000 genomes]
rs74093823	0.85[EUR][1000 genomes]
rs74093827	0.85[EUR][1000 genomes]
rs74093853	0.94[EUR][1000 genomes]
rs7975715	0.82[EUR][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	nsv482304	chr12:51653496-51814917	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv469377	chr12:51690751-51733951	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv558877	chr12:51690751-51733951	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv832408	chr12:51696605-51871339	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51718400-51727800	Weak transcription	Colonic Mucosa	Colon
2	chr12:51720800-51728600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr12:51720800-51735000	Weak transcription	Esophagus	oesophagus
4	chr12:51721200-51735000	Weak transcription	NHDF-Ad	bronchial
5	chr12:51722600-51735000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr12:51724200-51727200	Weak transcription	K562	blood
7	chr12:51724200-51735000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr12:51724400-51727600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:51724400-51727600	Weak transcription	Hela-S3	cervix
10	chr12:51724400-51727800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:51724400-51728400	Weak transcription	Primary neutrophils fromperipheralblood	blood
12	chr12:51724400-51728600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr12:51724400-51728600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr12:51724400-51728600	Weak transcription	Fetal Thymus	thymus
15	chr12:51724400-51728800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr12:51724400-51728800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:51724400-51734800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:51724400-51739200	Weak transcription	Thymus	Thymus
19	chr12:51724600-51727800	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr12:51724600-51728400	Weak transcription	Primary monocytes fromperipheralblood	blood
21	chr12:51725400-51735000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:51726000-51727600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr12:51726000-51734800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr12:51726200-51729800	Enhancers	Rectal Mucosa Donor 29	rectum

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