Variant report

Variant	rs12991680
Chromosome Location	chr2:211464553-211464554
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10180357	0.87[EUR][1000 genomes]
rs13385991	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13414563	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2302911	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2371001	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28499505	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4309518	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6435577	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6714124	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6755648	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6760497	0.92[EUR][1000 genomes]
rs7422569	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7576225	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7583733	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3398091	chr2:211315261-211634200	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1013658	chr2:211447246-211809945	Enhancers ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv536135	chr2:211447246-211809945	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211442400-211484200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr2:211442800-211477800	Strong transcription	Liver	Liver
3	chr2:211448600-211480800	Weak transcription	Aorta	Aorta
4	chr2:211448800-211475400	Weak transcription	Ovary	ovary
5	chr2:211449800-211467000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:211450000-211466800	Weak transcription	HepG2	liver
7	chr2:211450200-211481400	Strong transcription	Duodenum Mucosa	Duodenum
8	chr2:211457800-211467800	Weak transcription	HSMM	muscle
9	chr2:211458200-211471000	Weak transcription	Fetal Intestine Small	intestine
10	chr2:211458600-211465800	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:211458600-211485000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:211459000-211475600	Strong transcription	Hela-S3	cervix
13	chr2:211459200-211465600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr2:211462400-211470200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:211462600-211469600	Strong transcription	Fetal Intestine Large	intestine
16	chr2:211463800-211465800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:211463800-211474800	Weak transcription	Left Ventricle	heart
18	chr2:211464000-211464600	Strong transcription	Adipose Nuclei	Adipose
19	chr2:211464000-211466600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr2:211464000-211468600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:211464400-211464800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr2:211464400-211468000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr2:211464400-211480600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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