Variant report

Variant	rs12886839
Chromosome Location	chr14:64255138-64255139
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs11158508	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11158509	0.83[ASN][1000 genomes]
rs11158510	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11158512	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11158516	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs11845009	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11845533	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11847056	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11848677	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11849690	0.83[ASN][1000 genomes]
rs11850357	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12147063	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12586475	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12587472	0.80[ASN][1000 genomes]
rs12588087	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12589129	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12589296	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12878017	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12880638	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12883973	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12890491	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12892053	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12892314	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12894053	0.92[CEU][hapmap];1.00[CHB][hapmap]
rs1959034	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs1959035	0.80[ASN][1000 genomes]
rs2007726	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2149676	0.84[ASN][1000 genomes]
rs2149677	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2150291	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs2210650	0.80[ASN][1000 genomes]
rs2356995	0.84[ASN][1000 genomes]
rs2356996	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2357001	0.82[JPT][hapmap]
rs2357003	0.91[CEU][hapmap]
rs34780876	0.85[ASN][1000 genomes]
rs4243627	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4480718	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4591051	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4899118	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4899119	0.82[ASN][1000 genomes]
rs4902247	0.88[ASN][1000 genomes]
rs4902248	0.88[ASN][1000 genomes]
rs59529583	0.83[ASN][1000 genomes]
rs61985721	0.84[ASN][1000 genomes]
rs61985722	0.82[ASN][1000 genomes]
rs6573534	0.88[ASN][1000 genomes]
rs6573535	0.84[YRI][hapmap]
rs7143343	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7143535	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7145302	0.82[JPT][hapmap];0.90[YRI][hapmap]
rs7145657	0.83[ASN][1000 genomes]
rs7146821	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs7148088	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7148584	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7154239	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7154341	0.83[ASN][1000 genomes]
rs7155129	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158974	0.86[ASN][1000 genomes]
rs7160127	0.80[ASN][1000 genomes]
rs7493843	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8005553	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8005831	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8005899	0.81[ASN][1000 genomes]
rs8008552	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014975	0.84[ASN][1000 genomes]
rs8015311	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs945030	0.80[ASN][1000 genomes]
rs951250	0.82[YRI][hapmap]
rs954730	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]
rs9707224	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs998241	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[JPT][hapmap];1.00[YRI][hapmap];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1048645	chr14:64057327-64283872	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv564902	chr14:64230089-64280206	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
5	nsv1037140	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv542119	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv564903	chr14:64248549-64266899	Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64254000-64256200	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr14:64254200-64255400	Genic enhancers	Placenta	Placenta
3	chr14:64254200-64255600	Enhancers	Fetal Muscle Leg	muscle
4	chr14:64254400-64255200	Enhancers	Ovary	ovary
5	chr14:64254400-64256400	Enhancers	Fetal Muscle Trunk	muscle
6	chr14:64254600-64255400	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:64254600-64255600	Enhancers	Fetal Stomach	stomach
8	chr14:64254600-64275200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:64254800-64255200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr14:64254800-64255200	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:64254800-64255400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:64254800-64255400	Flanking Bivalent TSS/Enh	HepG2	liver
13	chr14:64254800-64255600	Enhancers	Stomach Mucosa	stomach
14	chr14:64255000-64255200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:64255000-64255200	Enhancers	Adipose Nuclei	Adipose
16	chr14:64255000-64255200	Enhancers	Duodenum Mucosa	Duodenum
17	chr14:64255000-64255400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:64255000-64255400	Active TSS	Colon Smooth Muscle	Colon
19	chr14:64255000-64255400	Enhancers	Fetal Brain Male	brain
20	chr14:64255000-64255400	Enhancers	Left Ventricle	heart
21	chr14:64255000-64255400	Enhancers	Lung	lung
22	chr14:64255000-64255400	Flanking Active TSS	Psoas Muscle	Psoas
23	chr14:64255000-64255400	Active TSS	Rectal Smooth Muscle	rectum
24	chr14:64255000-64255400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr14:64255000-64255400	Flanking Active TSS	Stomach Smooth Muscle	stomach
26	chr14:64255000-64255600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr14:64255000-64255600	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr14:64255000-64256000	Enhancers	HSMM	muscle
29	chr14:64255000-64256200	Enhancers	HSMMtube	muscle

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