Variant report

Variant	rs12062241
Chromosome Location	chr1:114544436-114544437
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11102717	1.00[AMR][1000 genomes]
rs11102718	1.00[AMR][1000 genomes]
rs11102723	1.00[AMR][1000 genomes]
rs12060342	1.00[AMR][1000 genomes]
rs12060704	1.00[AMR][1000 genomes]
rs12061788	1.00[AMR][1000 genomes]
rs12076115	1.00[AMR][1000 genomes]
rs12079394	1.00[AMR][1000 genomes]
rs12085980	1.00[AMR][1000 genomes]
rs12087525	0.83[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12087807	1.00[AMR][1000 genomes]
rs12091375	1.00[AMR][1000 genomes]
rs12093638	0.80[AFR][1000 genomes]
rs12094896	1.00[AMR][1000 genomes]
rs57823986	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58203825	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60420764	1.00[AMR][1000 genomes]
rs60727700	1.00[AMR][1000 genomes]
rs6690665	1.00[AMR][1000 genomes]
rs74112072	1.00[AMR][1000 genomes]
rs74112073	1.00[AMR][1000 genomes]
rs74112550	1.00[AMR][1000 genomes]
rs74112551	1.00[AMR][1000 genomes]
rs74112552	1.00[AMR][1000 genomes]
rs74112553	1.00[AMR][1000 genomes]
rs74113350	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7515723	1.00[AMR][1000 genomes]
rs7527367	1.00[AMR][1000 genomes]
rs7529237	1.00[AMR][1000 genomes]
rs7529814	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
2	esv2754686	chr1:114531958-114602958	Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114538800-114545800	Weak transcription	Right Atrium	heart
2	chr1:114541200-114544800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr1:114541200-114545200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:114541400-114545000	Weak transcription	Fetal Stomach	stomach
5	chr1:114541600-114545200	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr1:114541800-114546200	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:114542000-114544800	Weak transcription	Fetal Lung	lung
8	chr1:114542600-114545000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:114542600-114545400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:114542800-114544800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr1:114542800-114545200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr1:114543000-114547400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr1:114544200-114545000	Enhancers	H1 Cell Line	embryonic stem cell
14	chr1:114544200-114545000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr1:114544200-114546000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:114544200-114546200	Enhancers	H9 Cell Line	embryonic stem cell
17	chr1:114544200-114546200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:114544200-114546800	Enhancers	Fetal Muscle Trunk	muscle
19	chr1:114544200-114546800	Enhancers	Fetal Muscle Leg	muscle
20	chr1:114544400-114545600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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