Variant report

Variant	rs74093814
Chromosome Location	chr12:51700512-51700513
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	chr12:51694624..51697203-chr12:51700162..51702400,2	MCF-7	breast:
2	chr12:51661276..51664134-chr12:51700484..51702022,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000170545	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs12578771	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12580302	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12581282	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12814917	0.82[ASN][1000 genomes]
rs17860277	0.81[EUR][1000 genomes]
rs17860287	0.85[EUR][1000 genomes]
rs17860296	0.86[EUR][1000 genomes]
rs17860302	0.86[EUR][1000 genomes]
rs17860346	0.82[EUR][1000 genomes]
rs17860364	0.81[EUR][1000 genomes]
rs17860365	0.82[EUR][1000 genomes]
rs17860378	0.81[EUR][1000 genomes]
rs17860380	0.82[EUR][1000 genomes]
rs17860382	0.82[EUR][1000 genomes]
rs17860387	0.82[EUR][1000 genomes]
rs1991433	0.84[EUR][1000 genomes]
rs2114876	0.81[EUR][1000 genomes]
rs2288367	0.87[EUR][1000 genomes]
rs3858637	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs3969069	0.81[EUR][1000 genomes]
rs4477479	0.81[EUR][1000 genomes]
rs4611251	0.81[EUR][1000 genomes]
rs4761982	0.81[EUR][1000 genomes]
rs4761985	0.81[EUR][1000 genomes]
rs55901988	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57484374	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58213562	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs58673573	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs60641385	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60797544	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61172662	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61380773	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61570206	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61605107	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6580821	0.81[EUR][1000 genomes]
rs7133314	0.81[EUR][1000 genomes]
rs7135736	0.81[EUR][1000 genomes]
rs7138394	0.90[EUR][1000 genomes]
rs7308177	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7309232	0.85[ASN][1000 genomes]
rs7311196	0.81[EUR][1000 genomes]
rs7312857	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7316221	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7316301	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7316604	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74093810	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74093823	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74093827	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74093853	0.87[EUR][1000 genomes]
rs7954976	0.81[EUR][1000 genomes]
rs7975715	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51674000-51701400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr12:51674200-51704000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:51674400-51700600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:51680600-51701600	Weak transcription	Small Intestine	intestine
5	chr12:51681800-51714200	Weak transcription	Gastric	stomach
6	chr12:51686200-51702800	Weak transcription	Colonic Mucosa	Colon
7	chr12:51686800-51701200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr12:51687000-51703800	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr12:51687000-51707400	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr12:51687800-51708000	Strong transcription	Thymus	Thymus
11	chr12:51691800-51702200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:51693800-51701600	Weak transcription	Duodenum Mucosa	Duodenum
13	chr12:51694800-51701400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr12:51696600-51712400	Genic enhancers	Primary T cells fromperipheralblood	blood
15	chr12:51696800-51701600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:51697800-51701600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:51698200-51702200	Weak transcription	Placenta	Placenta
18	chr12:51698400-51712600	Weak transcription	Spleen	Spleen
19	chr12:51699200-51709400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
20	chr12:51699400-51700800	Genic enhancers	Primary B cells from cord blood	blood
21	chr12:51699800-51700600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:51699800-51700600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr12:51699800-51700600	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr12:51699800-51700800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr12:51699800-51701000	Enhancers	GM12878-XiMat	blood
26	chr12:51699800-51701400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr12:51699800-51710000	Strong transcription	Fetal Thymus	thymus
28	chr12:51700000-51700600	Genic enhancers	Monocytes-CD14+_RO01746	blood
29	chr12:51700000-51700800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr12:51700000-51701800	Strong transcription	Primary T cells from cord blood	blood
31	chr12:51700000-51702400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr12:51700200-51700600	Enhancers	Esophagus	oesophagus
33	chr12:51700200-51700800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:51700200-51702000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:51700400-51700600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:51700400-51700800	Genic enhancers	Primary B cells from peripheral blood	blood
37	chr12:51700400-51700800	Genic enhancers	Primary hematopoietic stem cells	blood
38	chr12:51700400-51700800	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr12:51700400-51700800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
40	chr12:51700400-51701400	Enhancers	A549	lung
41	chr12:51700400-51701800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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