Variant report

Variant	rs12997347
Chromosome Location	chr2:49515263-49515264
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10189252	0.87[EUR][1000 genomes]
rs11674727	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11678084	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11687169	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12615060	0.83[EUR][1000 genomes]
rs12617184	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12621511	0.84[EUR][1000 genomes]
rs12987821	0.80[EUR][1000 genomes]
rs12992153	0.87[EUR][1000 genomes]
rs12994278	0.83[EUR][1000 genomes]
rs12994729	0.82[EUR][1000 genomes]
rs12999467	0.83[EUR][1000 genomes]
rs13000772	0.83[EUR][1000 genomes]
rs13006053	0.87[EUR][1000 genomes]
rs13006072	0.87[EUR][1000 genomes]
rs13009122	0.89[EUR][1000 genomes]
rs13015519	0.86[EUR][1000 genomes]
rs13016541	0.86[EUR][1000 genomes]
rs13020477	0.86[EUR][1000 genomes]
rs13020652	0.86[EUR][1000 genomes]
rs13032160	0.87[EUR][1000 genomes]
rs13033709	0.87[EUR][1000 genomes]
rs1365863	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1469359	0.87[EUR][1000 genomes]
rs1469360	0.87[EUR][1000 genomes]
rs1834783	0.84[EUR][1000 genomes]
rs2162527	0.87[EUR][1000 genomes]
rs2195089	0.85[EUR][1000 genomes]
rs2195090	0.83[EUR][1000 genomes]
rs2350021	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2350022	0.85[EUR][1000 genomes]
rs2882305	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4971751	0.87[EUR][1000 genomes]
rs4971753	0.87[EUR][1000 genomes]
rs4995782	0.83[EUR][1000 genomes]
rs4995783	0.83[EUR][1000 genomes]
rs6708953	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008909	chr2:49281630-49571619	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	2 gene(s)	inside rSNPs	diseases
2	nsv993555	chr2:49299168-49781707	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv869321	chr2:49316909-49587401	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv1005336	chr2:49422587-49737964	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv535686	chr2:49422587-49737964	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv1006675	chr2:49422587-49737965	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv535687	chr2:49422587-49737965	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv998367	chr2:49441886-49795482	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1002948	chr2:49447212-49522898	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv508141	chr2:49490768-49545631	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
11	nsv581796	chr2:49498006-49522163	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
12	nsv874013	chr2:49498006-49690836	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
13	nsv1003189	chr2:49500895-49517511	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
14	nsv874014	chr2:49510173-49668973	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
15	nsv963873	chr2:49510595-49524121	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
16	nsv1010867	chr2:49512442-49541178	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
17	nsv581797	chr2:49514731-49554983	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
18	nsv457418	chr2:49514731-49562536	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
19	nsv581798	chr2:49514731-49562536	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:49513400-49520000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr2:49513800-49515600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr2:49513800-49518800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr2:49514600-49516800	Enhancers	Fetal Brain Female	brain
5	chr2:49514600-49517200	Enhancers	Fetal Heart	heart
6	chr2:49514800-49517200	Enhancers	Brain Angular Gyrus	brain
7	chr2:49515000-49515600	Enhancers	Brain Anterior Caudate	brain
8	chr2:49515000-49515600	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr2:49515000-49516600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr2:49515000-49517200	Enhancers	Fetal Brain Male	brain
11	chr2:49515000-49517400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:49515200-49515600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:49515200-49516600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:49515200-49517400	Enhancers	Brain Cingulate Gyrus	brain
15	chr2:49515200-49518200	Enhancers	Brain Substantia Nigra	brain

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