Variant report

Variant	rs12437318
Chromosome Location	chr14:37833750-37833751
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:100)

rs_ID	r²[population]
rs1005539	1.00[EUR][1000 genomes]
rs1005540	1.00[EUR][1000 genomes]
rs10129341	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10132634	0.90[AFR][1000 genomes]
rs10132652	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10132727	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10134672	1.00[EUR][1000 genomes]
rs10135014	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10136240	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10137554	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10141822	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10144237	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10144304	1.00[EUR][1000 genomes]
rs10145246	1.00[EUR][1000 genomes]
rs10146919	1.00[EUR][1000 genomes]
rs1014880	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10150559	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10782386	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11845464	0.87[EUR][1000 genomes]
rs11846576	0.87[EUR][1000 genomes]
rs11848827	1.00[EUR][1000 genomes]
rs11849999	1.00[EUR][1000 genomes]
rs12434053	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12586942	1.00[EUR][1000 genomes]
rs12717263	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1474887	1.00[EUR][1000 genomes]
rs1474888	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1546973	1.00[EUR][1000 genomes]
rs1884406	1.00[AFR][1000 genomes]
rs1950518	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1950525	1.00[EUR][1000 genomes]
rs1950528	1.00[EUR][1000 genomes]
rs1950535	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1955932	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1955933	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1955935	1.00[EUR][1000 genomes]
rs1955937	1.00[EUR][1000 genomes]
rs1955953	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1955954	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1955956	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1956517	1.00[EUR][1000 genomes]
rs1998019	1.00[EUR][1000 genomes]
rs2103893	0.95[AFR][1000 genomes]
rs2144582	1.00[EUR][1000 genomes]
rs2180252	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2180253	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2207861	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2207863	0.97[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2224155	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2224157	1.00[EUR][1000 genomes]
rs2415390	0.87[EUR][1000 genomes]
rs2415392	1.00[EUR][1000 genomes]
rs2415394	1.00[EUR][1000 genomes]
rs2415395	1.00[EUR][1000 genomes]
rs2899856	1.00[EUR][1000 genomes]
rs2899858	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs34172996	1.00[EUR][1000 genomes]
rs41307090	1.00[EUR][1000 genomes]
rs4522332	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4898593	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs4900779	1.00[EUR][1000 genomes]
rs4900823	1.00[EUR][1000 genomes]
rs4900834	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57167835	0.87[EUR][1000 genomes]
rs57900485	0.87[EUR][1000 genomes]
rs58520096	1.00[EUR][1000 genomes]
rs59258105	1.00[EUR][1000 genomes]
rs59542560	0.87[EUR][1000 genomes]
rs59544181	0.87[EUR][1000 genomes]
rs60287404	1.00[EUR][1000 genomes]
rs6571804	1.00[EUR][1000 genomes]
rs6571805	1.00[EUR][1000 genomes]
rs6571808	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs6571809	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7142072	1.00[EUR][1000 genomes]
rs7142933	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7143412	1.00[EUR][1000 genomes]
rs7146631	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7150214	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7150986	0.87[EUR][1000 genomes]
rs7154479	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7154977	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7157931	1.00[EUR][1000 genomes]
rs7158473	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7160824	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7161464	1.00[EUR][1000 genomes]
rs719135	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8011752	0.95[AFR][1000 genomes]
rs8012059	0.83[AFR][1000 genomes]
rs8013329	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8014311	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8015886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8016309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8017564	0.83[AFR][1000 genomes]
rs8019167	1.00[EUR][1000 genomes]
rs8019673	1.00[EUR][1000 genomes]
rs8020631	1.00[EUR][1000 genomes]
rs8022961	1.00[EUR][1000 genomes]
rs987859	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9989228	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530038	chr14:37590543-38336191	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv915783	chr14:37607836-38002966	Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1036854	chr14:37609535-38013533	Active TSS ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv542045	chr14:37609535-38013533	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv1797813	chr14:37738197-37846877	Weak transcription Active TSS ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv1820642	chr14:37738197-37846877	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	esv1822817	chr14:37738197-37846877	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv1851834	chr14:37738197-37846877	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv901639	chr14:37743583-38038468	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv901640	chr14:37782273-37963104	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv949227	chr14:37785560-37963104	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	esv3396592	chr14:37806250-37839751	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
13	esv3341413	chr14:37806250-37842508	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
14	esv3384499	chr14:37809250-37843187	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
15	esv1851939	chr14:37810699-37963104	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:37825600-37840200	Weak transcription	Stomach Smooth Muscle	stomach
2	chr14:37831000-37852400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr14:37831400-37834800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr14:37832600-37835000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
5	chr14:37833000-37833800	ZNF genes & repeats	A549	lung
6	chr14:37833200-37834800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr14:37833400-37834200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:37833400-37834400	Weak transcription	Gastric	stomach
9	chr14:37833400-37839600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr14:37833400-37841800	Weak transcription	Left Ventricle	heart
11	chr14:37833400-37844200	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr14:37833400-37845600	Weak transcription	Esophagus	oesophagus
13	chr14:37833400-37848000	Weak transcription	Aorta	Aorta
14	chr14:37833400-37867000	Weak transcription	Ovary	ovary
15	chr14:37833600-37843800	Weak transcription	Pancreas	Pancrea
16	chr14:37833600-37846200	Weak transcription	Fetal Intestine Small	intestine
17	chr14:37833600-37853200	Weak transcription	Fetal Lung	lung

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