Variant report

Variant	rs2682675
Chromosome Location	chr12:31533318-31533319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10843946	0.91[AMR][1000 genomes]
rs12310541	0.82[AMR][1000 genomes]
rs1654008	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1798769	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1798781	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs1798782	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs1864912	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2568896	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2682702	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs2947175	0.91[AMR][1000 genomes]
rs4931491	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs67985192	0.91[AMR][1000 genomes]
rs708196	0.85[AFR][1000 genomes]
rs708198	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs708199	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs708201	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs708202	0.86[AFR][1000 genomes]
rs708207	0.91[AMR][1000 genomes]
rs708210	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs708211	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs708216	0.84[AFR][1000 genomes]
rs708218	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs708220	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7300482	0.91[AMR][1000 genomes]
rs7302238	0.91[AMR][1000 genomes]
rs7302818	0.91[AMR][1000 genomes]
rs792874	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs793147	0.91[AMR][1000 genomes]
rs793152	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs793159	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs793164	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs793181	0.91[AMR][1000 genomes]
rs793183	0.91[AMR][1000 genomes]
rs793187	0.91[AMR][1000 genomes]
rs793188	0.91[AMR][1000 genomes]
rs796963	0.91[AMR][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	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2751046	chr12:31174233-31684733	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv832364	chr12:31467990-31648144	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31523400-31537600	Weak transcription	Fetal Brain Female	brain
2	chr12:31523800-31538200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr12:31524400-31536600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr12:31524400-31538200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:31524400-31540200	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:31524600-31535000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:31524600-31535000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:31524800-31537200	Weak transcription	Fetal Intestine Large	intestine
9	chr12:31524800-31538000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr12:31526800-31534800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:31530800-31538000	Weak transcription	Liver	Liver
12	chr12:31530800-31541400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr12:31531800-31539600	Weak transcription	HSMM	muscle
14	chr12:31532800-31538800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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