Variant report

Variant	rs6665204
Chromosome Location	chr1:224814765-224814766
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10799588	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10799589	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10916653	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12564263	0.83[EUR][1000 genomes]
rs1353837	0.82[EUR][1000 genomes]
rs1499292	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1566386	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1566388	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1932991	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2405315	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2405317	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs4654057	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4654058	0.83[EUR][1000 genomes]
rs4654060	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658957	0.84[EUR][1000 genomes]
rs6690184	0.84[EUR][1000 genomes]
rs6697510	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7516323	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7529774	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7532595	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs883115	0.83[EUR][1000 genomes]
rs904505	0.85[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs969026	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[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	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224809400-224815800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:224810400-224819800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:224810600-224814800	Enhancers	Fetal Brain Male	brain
4	chr1:224810600-224814800	Enhancers	Osteobl	bone
5	chr1:224810800-224815600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:224811000-224819800	Weak transcription	Right Atrium	heart
7	chr1:224812000-224814800	Genic enhancers	NHLF	lung
8	chr1:224812200-224815200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:224812600-224819800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:224812800-224815600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:224812800-224825200	Weak transcription	HMEC	breast
12	chr1:224812800-224828200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:224813000-224820200	Weak transcription	Dnd41	blood
14	chr1:224813400-224816400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr1:224813600-224816400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:224814000-224814800	Enhancers	NH-A	brain
17	chr1:224814400-224817400	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:224814400-224819400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:224814600-224814800	Weak transcription	NHDF-Ad	bronchial
20	chr1:224814600-224816000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:224814600-224816400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:224814600-224816600	Enhancers	Pancreas	Pancrea
23	chr1:224814600-224819000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:224814600-224819400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:224814600-224819800	Weak transcription	HSMM	muscle
26	chr1:224814600-224823000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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