Variant report

Variant	rs12699343
Chromosome Location	chr7:12297052-12297053
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs1042946	0.92[EUR][1000 genomes]
rs12699321	0.85[CEU][hapmap]
rs12699322	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12699325	0.89[EUR][1000 genomes]
rs12699326	0.89[EUR][1000 genomes]
rs12699334	0.92[EUR][1000 genomes]
rs12699337	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12699339	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12699340	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12699341	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12699344	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12699347	0.87[EUR][1000 genomes]
rs12699348	0.90[EUR][1000 genomes]
rs12699351	0.90[EUR][1000 genomes]
rs12699356	0.87[EUR][1000 genomes]
rs12699357	0.87[EUR][1000 genomes]
rs12699358	0.87[EUR][1000 genomes]
rs12699359	0.87[EUR][1000 genomes]
rs12699361	0.85[EUR][1000 genomes]
rs13222858	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13223216	0.89[EUR][1000 genomes]
rs13223381	0.82[EUR][1000 genomes]
rs13227133	0.82[EUR][1000 genomes]
rs13229277	0.87[EUR][1000 genomes]
rs13233991	0.89[EUR][1000 genomes]
rs13234238	0.87[CEU][hapmap];0.89[EUR][1000 genomes]
rs13244354	0.87[CEU][hapmap]
rs13245483	0.87[EUR][1000 genomes]
rs13246340	0.89[EUR][1000 genomes]
rs13309255	0.87[CEU][hapmap];0.92[EUR][1000 genomes]
rs13311466	0.89[EUR][1000 genomes]
rs34167422	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs35390376	0.89[EUR][1000 genomes]
rs35560707	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs71529336	0.92[EUR][1000 genomes]
rs71529343	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv606199	chr7:11506143-12486659	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv534432	chr7:12148960-12693032	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers 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	58 gene(s)	inside rSNPs	diseases
5	nsv1033704	chr7:12286225-12355773	Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12296600-12297200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr7:12296600-12297200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr7:12296800-12297200	Enhancers	Primary B cells from cord blood	blood
4	chr7:12296800-12297200	Enhancers	Primary T cells from cord blood	blood
5	chr7:12296800-12297400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
6	chr7:12296800-12297600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
7	chr7:12296800-12297800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:12296800-12298000	Flanking Active TSS	GM12878-XiMat	blood
9	chr7:12296800-12298200	Enhancers	Primary B cells from peripheral blood	blood
10	chr7:12296800-12298200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
11	chr7:12296800-12298200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr7:12297000-12297200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:12297000-12297200	Active TSS	Adipose Nuclei	Adipose
14	chr7:12297000-12297200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr7:12297000-12297200	Enhancers	A549	lung
16	chr7:12297000-12297200	Active TSS	Monocytes-CD14+_RO01746	blood
17	chr7:12297000-12297400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
18	chr7:12297000-12297400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr7:12297000-12297400	Active TSS	K562	blood
20	chr7:12297000-12297600	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr7:12297000-12297800	Active TSS	Primary T cells fromperipheralblood	blood
22	chr7:12297000-12297800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr7:12297000-12297800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
24	chr7:12297000-12297800	Active TSS	Liver	Liver
25	chr7:12297000-12297800	Active TSS	Duodenum Mucosa	Duodenum
26	chr7:12297000-12298000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr7:12297000-12298000	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr7:12297000-12298000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr7:12297000-12298600	Flanking Active TSS	Dnd41	blood

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