Variant report

Variant	rs12699337
Chromosome Location	chr7:12283464-12283465
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:12273399..12275539-chr7:12283095..12285753,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10281777	0.85[EUR][1000 genomes]
rs1042946	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10666459	0.81[EUR][1000 genomes]
rs12699316	0.88[AMR][1000 genomes]
rs12699317	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12699318	0.82[EUR][1000 genomes]
rs12699319	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12699322	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12699325	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12699326	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12699334	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12699339	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12699340	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12699341	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12699343	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12699344	0.93[EUR][1000 genomes]
rs12699347	0.85[EUR][1000 genomes]
rs12699348	0.88[EUR][1000 genomes]
rs12699351	0.88[EUR][1000 genomes]
rs12699356	0.85[EUR][1000 genomes]
rs12699357	0.85[EUR][1000 genomes]
rs12699358	0.85[EUR][1000 genomes]
rs12699359	0.85[EUR][1000 genomes]
rs12699361	0.86[EUR][1000 genomes]
rs13221483	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13221595	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13222858	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13223216	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13223381	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13227133	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13228832	0.88[AMR][1000 genomes]
rs13229277	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13233991	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13234238	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13245483	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13246024	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13246340	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs13309255	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13311466	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs34167422	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34201361	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35390376	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs35560707	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs36104470	0.88[AMR][1000 genomes]
rs71529336	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71529343	0.85[EUR][1000 genomes]
rs7799766	0.83[AMR][1000 genomes];0.82[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	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

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12252000-12285400	Weak transcription	Spleen	Spleen
2	chr7:12252400-12284000	Weak transcription	Fetal Intestine Small	intestine
3	chr7:12259800-12283600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr7:12270000-12284400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr7:12271800-12289000	Weak transcription	HSMM	muscle
6	chr7:12278000-12283800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr7:12278600-12284600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
8	chr7:12278800-12283600	Weak transcription	A549	lung
9	chr7:12279000-12284400	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:12279800-12283600	Weak transcription	Liver	Liver
11	chr7:12280000-12295000	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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