Variant report

Variant	rs2701189
Chromosome Location	chr12:121468061-121468062
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10849829	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1169279	0.82[ASN][1000 genomes]
rs1169281	0.82[ASN][1000 genomes]
rs2254971	0.80[ASN][1000 genomes]
rs2258043	0.80[ASN][1000 genomes]
rs2258287	0.81[ASN][1000 genomes]
rs2259690	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2259693	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2259777	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2259883	0.90[ASN][1000 genomes]
rs2260399	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2260445	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2260446	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2264778	0.80[ASN][1000 genomes]
rs4278584	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv899560	chr12:121371233-121560581	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv899561	chr12:121376416-121525591	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1037195	chr12:121408540-121470375	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv1039216	chr12:121421701-121538491	Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121454400-121471600	Weak transcription	GM12878-XiMat	blood
2	chr12:121454400-121472200	Weak transcription	Primary T cells from cord blood	blood
3	chr12:121454400-121475800	Weak transcription	Adipose Nuclei	Adipose
4	chr12:121454400-121476000	Weak transcription	Rectal Smooth Muscle	rectum
5	chr12:121454400-121476400	Weak transcription	Right Atrium	heart
6	chr12:121454600-121470200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr12:121454600-121471000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:121454600-121471000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:121454600-121471200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr12:121454600-121471600	Weak transcription	Fetal Thymus	thymus
11	chr12:121454600-121476200	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:121454600-121476200	Weak transcription	Gastric	stomach
13	chr12:121454800-121470400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr12:121454800-121471000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr12:121460000-121471400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:121462200-121471000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:121464800-121471000	Weak transcription	Small Intestine	intestine
18	chr12:121464800-121471200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr12:121465000-121471000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr12:121465000-121472000	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr12:121465200-121469200	Weak transcription	Stomach Mucosa	stomach
22	chr12:121465600-121468600	Weak transcription	Spleen	Spleen
23	chr12:121465600-121471000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr12:121465600-121471000	Weak transcription	Hela-S3	cervix
25	chr12:121465600-121471200	Weak transcription	Lung	lung
26	chr12:121465800-121468200	Weak transcription	Monocytes-CD14+_RO01746	blood
27	chr12:121465800-121470600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr12:121465800-121471200	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr12:121465800-121471400	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr12:121465800-121471600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr12:121466200-121468200	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr12:121466200-121471400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr12:121466400-121468400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr12:121466400-121471200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:121466800-121469000	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr12:121467000-121469400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:121467800-121468800	Enhancers	Placenta	Placenta
38	chr12:121467800-121471800	Strong transcription	Liver	Liver
39	chr12:121468000-121471200	Weak transcription	Esophagus	oesophagus

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