Variant report

Variant	rs12578771
Chromosome Location	chr12:51710345-51710346
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs12580302	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12581282	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17860277	0.89[EUR][1000 genomes]
rs17860287	0.93[EUR][1000 genomes]
rs17860296	0.94[EUR][1000 genomes]
rs17860302	0.94[EUR][1000 genomes]
rs17860346	0.90[EUR][1000 genomes]
rs17860364	0.89[EUR][1000 genomes]
rs17860365	0.90[EUR][1000 genomes]
rs17860378	0.89[EUR][1000 genomes]
rs17860380	0.90[EUR][1000 genomes]
rs17860382	0.90[EUR][1000 genomes]
rs17860387	0.90[EUR][1000 genomes]
rs3858637	0.90[EUR][1000 genomes]
rs4335588	0.85[ASN][1000 genomes]
rs4761870	0.80[EUR][1000 genomes]
rs55901988	0.93[EUR][1000 genomes]
rs56869579	0.83[ASN][1000 genomes]
rs57484374	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58213562	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58673573	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60641385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60797544	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61172662	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61380773	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs61570206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61605107	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7138394	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7301933	0.84[ASN][1000 genomes]
rs7308177	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7311196	0.89[EUR][1000 genomes]
rs7312857	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7316221	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7316301	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7316604	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs74093810	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs74093814	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs74093823	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74093827	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs74093853	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7975715	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[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:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:51681800-51714200	Weak transcription	Gastric	stomach
2	chr12:51696600-51712400	Genic enhancers	Primary T cells fromperipheralblood	blood
3	chr12:51698400-51712600	Weak transcription	Spleen	Spleen
4	chr12:51700600-51711000	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr12:51702200-51712400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr12:51702400-51712200	Weak transcription	GM12878-XiMat	blood
7	chr12:51702800-51712200	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr12:51703400-51711200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr12:51703400-51711200	Weak transcription	Placenta	Placenta
10	chr12:51704000-51712200	Weak transcription	Stomach Mucosa	stomach
11	chr12:51704400-51712200	Weak transcription	A549	lung
12	chr12:51704600-51712600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:51707400-51712400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:51707600-51712600	Weak transcription	Duodenum Mucosa	Duodenum
15	chr12:51707800-51712600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr12:51708200-51712200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:51708400-51712600	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr12:51708600-51711800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:51708800-51712400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:51708800-51716600	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr12:51709400-51710600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr12:51709400-51711800	Genic enhancers	Primary neutrophils fromperipheralblood	blood
23	chr12:51709400-51712400	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr12:51709600-51710400	Genic enhancers	Primary hematopoietic stem cells	blood
25	chr12:51709600-51710600	Enhancers	Primary B cells from cord blood	blood
26	chr12:51709600-51710600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:51709600-51710600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr12:51709800-51710600	Genic enhancers	Primary monocytes fromperipheralblood	blood
29	chr12:51709800-51710600	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:51709800-51711000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr12:51709800-51712400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr12:51710000-51710400	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr12:51710000-51711200	Weak transcription	Fetal Thymus	thymus
34	chr12:51710000-51711800	Weak transcription	K562	blood
35	chr12:51710000-51712000	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr12:51710000-51712200	Weak transcription	Thymus	Thymus
37	chr12:51710000-51712400	Enhancers	Primary T cells from cord blood	blood

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