Variant report

Variant	rs12989198
Chromosome Location	chr2:183287411-183287412
allele	A/G
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:20)

rs_ID	r²[population]
rs10931012	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11684406	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11686025	0.84[JPT][hapmap]
rs11689230	0.95[CEU][hapmap];0.81[EUR][1000 genomes]
rs12468743	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12693306	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12693307	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1346773	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1370669	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1430158	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1560370	0.95[CEU][hapmap];0.82[YRI][hapmap];0.85[EUR][1000 genomes]
rs1560371	1.00[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1560372	0.95[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1583114	0.81[JPT][hapmap]
rs17343416	0.95[CEU][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17356152	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs1946815	0.80[CHB][hapmap];0.85[JPT][hapmap]
rs4091077	1.00[CEU][hapmap];0.87[CHB][hapmap];0.81[JPT][hapmap];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62188264	0.81[ASN][1000 genomes]
rs6740889	1.00[CEU][hapmap];0.93[CHB][hapmap];0.93[JPT][hapmap];0.87[EUR][1000 genomes];0.82[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	nsv533782	chr2:183059730-183500040	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv834481	chr2:183189758-183339577	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:183280800-183289200	Weak transcription	Fetal Kidney	kidney
2	chr2:183281600-183290200	Weak transcription	Fetal Brain Female	brain
3	chr2:183282200-183289200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr2:183284800-183293000	Active TSS	Aorta	Aorta
5	chr2:183285000-183292400	Active TSS	Right Atrium	heart
6	chr2:183285400-183293400	Active TSS	Stomach Smooth Muscle	stomach
7	chr2:183285400-183293800	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr2:183285800-183289400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr2:183286000-183289000	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr2:183286200-183287800	Weak transcription	Fetal Stomach	stomach
11	chr2:183286600-183287800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:183286800-183289200	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr2:183287000-183288400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr2:183287000-183288400	Weak transcription	Colon Smooth Muscle	Colon
15	chr2:183287000-183289400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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