Variant report

Variant	rs17860364
Chromosome Location	chr12:51723499-51723500
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:51712710..51714894-chr12:51720855..51723845,2	K562	blood:
2	chr12:51710356..51713645-chr12:51720668..51723733,3	MCF-7	breast:
3	chr12:51719185..51720763-chr12:51721819..51723856,2	MCF-7	breast:
4	chr12:51662774..51665391-chr12:51722763..51725080,2	MCF-7	breast:
5	chr12:51712710..51716828-chr12:51719754..51724043,5	K562	blood:
6	chr12:51686282..51687950-chr12:51722730..51724837,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170545	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs12578771	0.89[EUR][1000 genomes]
rs12580302	0.84[EUR][1000 genomes]
rs12581282	0.89[EUR][1000 genomes]
rs17860277	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17860287	0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17860296	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17860302	0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17860346	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17860365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17860378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17860380	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17860382	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17860387	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3782470	0.82[EUR][1000 genomes]
rs4761870	0.80[EUR][1000 genomes]
rs55901988	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs57484374	0.84[EUR][1000 genomes]
rs58213562	0.89[EUR][1000 genomes]
rs58673573	0.86[EUR][1000 genomes]
rs60641385	0.89[EUR][1000 genomes]
rs60797544	0.85[EUR][1000 genomes]
rs61172662	0.84[EUR][1000 genomes]
rs61380773	0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61570206	0.89[EUR][1000 genomes]
rs61605107	0.86[EUR][1000 genomes]
rs7138394	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7308177	0.81[EUR][1000 genomes]
rs7311196	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7312857	0.86[EUR][1000 genomes]
rs7316221	0.81[EUR][1000 genomes]
rs7316301	0.86[EUR][1000 genomes]
rs7316604	0.81[EUR][1000 genomes]
rs74093810	0.81[EUR][1000 genomes]
rs74093814	0.81[EUR][1000 genomes]
rs74093823	0.84[EUR][1000 genomes]
rs74093827	0.84[EUR][1000 genomes]
rs74093853	0.93[EUR][1000 genomes]
rs7975715	0.81[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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51718000-51724400	Enhancers	Primary B cells from peripheral blood	blood
2	chr12:51718000-51724400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr12:51718400-51723600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
4	chr12:51718400-51724400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr12:51718400-51724400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:51718400-51724400	Enhancers	Placenta	Placenta
7	chr12:51718400-51724400	Enhancers	Fetal Thymus	thymus
8	chr12:51718400-51727800	Weak transcription	Colonic Mucosa	Colon
9	chr12:51719600-51723800	Enhancers	Dnd41	blood
10	chr12:51719800-51724200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr12:51720800-51728600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:51720800-51735000	Weak transcription	Esophagus	oesophagus
13	chr12:51721000-51724200	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr12:51721000-51724400	Enhancers	Primary hematopoietic stem cells	blood
15	chr12:51721200-51723600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:51721200-51723800	Weak transcription	HSMMtube	muscle
17	chr12:51721200-51724200	Enhancers	Primary B cells from cord blood	blood
18	chr12:51721200-51724600	Weak transcription	A549	lung
19	chr12:51721200-51735000	Weak transcription	NHDF-Ad	bronchial
20	chr12:51721400-51723600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:51721400-51723600	Enhancers	Spleen	Spleen
22	chr12:51721400-51723800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:51721400-51723800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:51721400-51724400	Enhancers	GM12878-XiMat	blood
25	chr12:51722000-51724200	Enhancers	K562	blood
26	chr12:51722200-51723600	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr12:51722200-51724000	Flanking Active TSS	Primary T cells from cord blood	blood
28	chr12:51722400-51724200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr12:51722400-51724200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr12:51722600-51723800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr12:51722600-51724000	Weak transcription	Brain Hippocampus Middle	brain
32	chr12:51722600-51735000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr12:51722800-51723800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
34	chr12:51722800-51724000	Weak transcription	Hela-S3	cervix
35	chr12:51723000-51724000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
36	chr12:51723000-51724200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr12:51723000-51724200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr12:51723200-51723600	Flanking Active TSS	Thymus	Thymus
39	chr12:51723200-51723800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
40	chr12:51723200-51723800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
41	chr12:51723200-51724200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr12:51723200-51724200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:51723200-51724400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr12:51723200-51724400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr12:51723400-51723600	Enhancers	Adipose Nuclei	Adipose
46	chr12:51723400-51723600	Enhancers	Fetal Muscle Trunk	muscle
47	chr12:51723400-51723600	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr12:51723400-51723600	Weak transcription	Stomach Mucosa	stomach
49	chr12:51723400-51723800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
50	chr12:51723400-51724000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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