Variant report

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10188503	1.00[ASN][1000 genomes]
rs11673955	1.00[ASN][1000 genomes]
rs11673961	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11692595	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11902301	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12710746	0.97[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12992919	1.00[ASN][1000 genomes]
rs12995733	1.00[ASN][1000 genomes]
rs12999597	1.00[ASN][1000 genomes]
rs13009577	1.00[ASN][1000 genomes]
rs13010638	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13018819	1.00[ASN][1000 genomes]
rs13410454	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28545158	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34504815	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34645675	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35088798	1.00[ASN][1000 genomes]
rs36143367	1.00[ASN][1000 genomes]
rs3923672	1.00[ASN][1000 genomes]
rs4362515	1.00[ASN][1000 genomes]
rs6713732	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6715637	1.00[ASN][1000 genomes]
rs6731768	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6741714	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv455841	chr2:21086693-21135577	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv581168	chr2:21086693-21135577	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv455852	chr2:21125742-21143329	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv581169	chr2:21125742-21143329	Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12998321	SMC6	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:21129600-21133000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:21129800-21133400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:21130000-21131800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:21130000-21135800	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr2:21130200-21133400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr2:21130400-21131800	Enhancers	HSMMtube	muscle
7	chr2:21130600-21132200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr2:21130800-21132400	Enhancers	Spleen	Spleen
9	chr2:21131200-21132600	Enhancers	Fetal Heart	heart
10	chr2:21131200-21136400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr2:21131400-21131800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:21131400-21133000	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:21131400-21133000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:21131400-21133200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:21131400-21133400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:21131400-21134400	Weak transcription	Ovary	ovary
17	chr2:21131600-21133600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:21131600-21136400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:21131600-21136600	Weak transcription	NHEK	skin

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