Variant report

Variant	rs12623687
Chromosome Location	chr2:182414358-182414359
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10490685	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10490691	0.85[ASN][1000 genomes]
rs11553356	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12614187	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12623737	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13387426	0.85[AMR][1000 genomes]
rs1375487	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1449259	0.84[ASN][1000 genomes]
rs16867437	0.80[ASN][1000 genomes]
rs16867438	0.84[ASN][1000 genomes]
rs16867442	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16867443	0.86[ASN][1000 genomes]
rs16867444	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs16867445	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2290517	0.84[ASN][1000 genomes]
rs2305581	0.82[ASN][1000 genomes]
rs3770106	0.82[ASN][1000 genomes]
rs3770109	0.80[ASN][1000 genomes]
rs4479393	0.84[ASN][1000 genomes]
rs4666787	0.85[ASN][1000 genomes]
rs55741565	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55743845	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55913132	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs56005177	0.83[ASN][1000 genomes]
rs56073441	0.86[ASN][1000 genomes]
rs56081507	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56104379	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56263562	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56267648	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58018201	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs58383411	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58716781	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6756022	0.83[ASN][1000 genomes]
rs718449	0.87[ASN][1000 genomes]
rs72883635	0.83[ASN][1000 genomes]
rs72883653	0.85[ASN][1000 genomes]
rs72883655	0.85[ASN][1000 genomes]
rs72883670	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72883678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72883679	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72883681	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72885326	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72885327	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72885333	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7601843	0.85[ASN][1000 genomes]
rs971741	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1014910	chr2:182375267-182544114	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription 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	7 gene(s)	inside rSNPs	diseases
4	nsv536065	chr2:182375267-182544114	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv869674	chr2:182409485-182468632	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182401400-182417600	Weak transcription	NHDF-Ad	bronchial
2	chr2:182402800-182414600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:182405600-182414600	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:182405600-182415200	Weak transcription	Dnd41	blood
5	chr2:182406000-182415400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:182406200-182414600	Weak transcription	Thymus	Thymus
7	chr2:182406200-182414600	Weak transcription	GM12878-XiMat	blood
8	chr2:182406400-182415000	Weak transcription	Primary T cells from cord blood	blood
9	chr2:182406800-182415400	Weak transcription	Primary B cells from cord blood	blood
10	chr2:182406800-182418200	Weak transcription	Fetal Thymus	thymus
11	chr2:182410800-182419200	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr2:182411200-182416800	Weak transcription	HMEC	breast
13	chr2:182411200-182417000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:182411200-182417000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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