Variant report

Variant	rs6603930
Chromosome Location	chr1:77464555-77464556
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1021809	0.88[ASN][1000 genomes]
rs1021810	0.88[ASN][1000 genomes]
rs1102443	1.00[ASN][1000 genomes]
rs1102446	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1102450	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1102452	1.00[ASN][1000 genomes]
rs12725479	0.88[ASN][1000 genomes]
rs12738622	0.88[ASN][1000 genomes]
rs12739214	0.88[ASN][1000 genomes]
rs12739665	1.00[ASN][1000 genomes]
rs12758534	1.00[ASN][1000 genomes]
rs1933396	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1933397	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs199676	0.88[ASN][1000 genomes]
rs199682	0.88[ASN][1000 genomes]
rs199685	0.86[ASN][1000 genomes]
rs199686	0.86[ASN][1000 genomes]
rs199687	0.88[ASN][1000 genomes]
rs2003707	1.00[ASN][1000 genomes]
rs34099189	1.00[ASN][1000 genomes]
rs34192006	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34760364	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34981569	1.00[ASN][1000 genomes]
rs35737550	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35800181	1.00[ASN][1000 genomes]
rs35804226	0.88[ASN][1000 genomes]
rs4949764	0.85[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs6658692	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6669856	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6669868	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6683527	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67296422	1.00[ASN][1000 genomes]
rs742681	1.00[ASN][1000 genomes]
rs7540333	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003826	chr1:76965331-77656929	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv535006	chr1:76965331-77656929	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv830292	chr1:77425571-77584307	Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:77456800-77472400	Weak transcription	Aorta	Aorta
2	chr1:77460400-77476200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:77462000-77473600	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr1:77462400-77465200	Enhancers	HMEC	breast
5	chr1:77463000-77464800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:77463400-77465200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:77463400-77465200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:77463400-77465200	Enhancers	NHDF-Ad	bronchial
9	chr1:77463800-77465000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:77464000-77464600	Enhancers	NH-A	brain
11	chr1:77464200-77465200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:77464200-77465200	Enhancers	HSMM	muscle
13	chr1:77464200-77465200	Enhancers	HSMMtube	muscle
14	chr1:77464400-77464600	Flanking Active TSS	Osteobl	bone
15	chr1:77464400-77464800	Active TSS	A549	lung
16	chr1:77464400-77464800	Active TSS	NHEK	skin
17	chr1:77464400-77465000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:77464400-77465000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr1:77464400-77465200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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