Variant report

Variant	rs894906
Chromosome Location	chr12:59470399-59470400
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10506354	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10783935	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10877204	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1444098	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1822586	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1967546	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2197332	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2197333	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2203085	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2218412	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2218413	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2371977	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2371978	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6581229	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6650225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7138934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7958198	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs978615	0.80[EUR][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	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription 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 miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1047257	chr12:59444966-59520330	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1050662	chr12:59444966-59526442	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59454400-59471200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:59465800-59478000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr12:59466000-59470400	Weak transcription	NH-A	brain
4	chr12:59466200-59471400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr12:59466400-59471000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr12:59468200-59470600	Enhancers	HUVEC	blood vessel
7	chr12:59468400-59489000	Weak transcription	Esophagus	oesophagus
8	chr12:59468600-59473000	Enhancers	Fetal Lung	lung
9	chr12:59468800-59471600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:59468800-59474200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr12:59469000-59472800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr12:59469200-59470400	Weak transcription	Fetal Intestine Large	intestine
13	chr12:59469200-59470400	Weak transcription	Fetal Kidney	kidney
14	chr12:59469200-59470400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:59469400-59470400	Weak transcription	Fetal Intestine Small	intestine
16	chr12:59469400-59470800	Weak transcription	Fetal Stomach	stomach
17	chr12:59469400-59471800	Weak transcription	Small Intestine	intestine
18	chr12:59469600-59471800	Weak transcription	Gastric	stomach
19	chr12:59469600-59472800	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:59469800-59471400	Weak transcription	Fetal Muscle Leg	muscle
21	chr12:59470000-59470800	Enhancers	Osteobl	bone
22	chr12:59470000-59471000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr12:59470000-59471400	Enhancers	NHEK	skin
24	chr12:59470000-59471600	Enhancers	HMEC	breast
25	chr12:59470000-59472800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:59470000-59474400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:59470200-59470400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:59470200-59471600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr12:59470200-59474400	Enhancers	Stomach Mucosa	stomach

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