Variant report

Variant	rs12223141
Chromosome Location	chr11:56972908-56972909
allele	G/T
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:21)

rs_ID	r²[population]
rs10501364	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896578	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10896586	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11228949	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11228951	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11602335	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11605468	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11606597	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1815860	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1893677	0.82[EUR][1000 genomes]
rs1943482	0.82[EUR][1000 genomes]
rs2156456	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs542855	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56074283	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56229060	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57944700	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs61888863	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61888865	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61888866	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7124474	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs717211	0.82[ASN][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	nsv915640	chr11:56814841-57139786	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv482317	chr11:56857026-57028631	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:56967200-56973000	Enhancers	Fetal Lung	lung
2	chr11:56967400-56973600	Enhancers	Fetal Stomach	stomach
3	chr11:56967800-56973600	Enhancers	Fetal Muscle Leg	muscle
4	chr11:56968200-56973000	Enhancers	Left Ventricle	heart
5	chr11:56968200-56974400	Enhancers	Fetal Muscle Trunk	muscle
6	chr11:56968200-56975200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
7	chr11:56969800-56973000	Enhancers	Placenta	Placenta
8	chr11:56970800-56974000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr11:56971200-56974000	Enhancers	H1 Cell Line	embryonic stem cell
10	chr11:56971200-56978000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:56971600-56973600	Enhancers	Adipose Nuclei	Adipose
12	chr11:56971600-56974800	Weak transcription	Right Atrium	heart
13	chr11:56971600-56974800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr11:56972200-56973000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:56972200-56973000	Enhancers	Brain Substantia Nigra	brain
16	chr11:56972200-56973200	Enhancers	Brain Anterior Caudate	brain
17	chr11:56972200-56973400	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr11:56972200-56973400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr11:56972200-56973600	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr11:56972200-56973800	Enhancers	H9 Cell Line	embryonic stem cell
21	chr11:56972200-56973800	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr11:56972200-56973800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr11:56972200-56974000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr11:56972400-56973000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr11:56972400-56973000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:56972400-56973400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr11:56972400-56973400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr11:56972400-56973800	Weak transcription	Right Ventricle	heart
29	chr11:56972600-56973000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
30	chr11:56972600-56973400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:56972600-56974200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:56972800-56973000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr11:56972800-56973000	Bivalent Enhancer	NHDF-Ad	bronchial
34	chr11:56972800-56973800	Weak transcription	Lung	lung
35	chr11:56972800-56974200	Weak transcription	Spleen	Spleen

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