Variant report

Variant	rs11684973
Chromosome Location	chr2:63801993-63801994
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10200146	0.82[AFR][1000 genomes]
rs1109963	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11684093	0.89[ASN][1000 genomes]
rs11688997	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11694619	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11695078	0.94[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11896820	0.81[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13003009	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13013630	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13013890	0.83[ASN][1000 genomes]
rs13015987	0.89[ASN][1000 genomes]
rs13025357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1446568	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2166496	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2166498	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs33977056	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34763417	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36116244	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs66873455	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs67037366	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6710451	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6724115	0.85[EUR][1000 genomes]
rs67257875	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67356044	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6751759	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs67696856	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67752811	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs67987962	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72821619	0.85[ASN][1000 genomes]
rs7591566	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1800788	chr2:63473443-63900292	ZNF genes & repeats Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:63777400-63806800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:63780200-63814800	Weak transcription	Psoas Muscle	Psoas
3	chr2:63781000-63804000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:63789000-63808200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:63789000-63808200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr2:63790600-63803000	Weak transcription	Fetal Heart	heart
7	chr2:63795000-63805600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr2:63797000-63805400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr2:63798400-63802400	Enhancers	iPS-18 Cell Line	embryonic stem cell
10	chr2:63799200-63808200	Weak transcription	Aorta	Aorta
11	chr2:63799400-63807600	Weak transcription	Adipose Nuclei	Adipose
12	chr2:63799800-63803600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr2:63801000-63814400	Weak transcription	Primary B cells from cord blood	blood
14	chr2:63801400-63802000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr2:63801400-63802000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr2:63801600-63802200	Enhancers	iPS-15b Cell Line	embryonic stem cell
17	chr2:63801800-63802000	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr2:63801800-63805600	Weak transcription	H1 Cell Line	embryonic stem cell

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