Variant report

Variant	rs10007052
Chromosome Location	chr4:142005573-142005574
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10007212	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10454797	1.00[CHB][hapmap];0.83[CHD][hapmap];0.86[ASN][1000 genomes]
rs11100704	0.87[CHB][hapmap]
rs11734543	0.87[CHB][hapmap]
rs11734545	0.94[CEU][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes]
rs11932194	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs11941500	0.87[ASN][1000 genomes]
rs13106123	0.85[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs13136132	1.00[ASN][1000 genomes]
rs13141278	0.81[CHB][hapmap];0.90[CHD][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs13434447	1.00[CHB][hapmap];0.80[CHD][hapmap];0.87[ASN][1000 genomes]
rs17006859	1.00[CHB][hapmap];0.80[CHD][hapmap];0.87[ASN][1000 genomes]
rs17426280	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs28529555	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34189599	0.81[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs4956504	0.87[CHB][hapmap]
rs4956509	1.00[CHB][hapmap];0.83[CHD][hapmap];0.86[ASN][1000 genomes]
rs4956510	0.81[CHB][hapmap]
rs6537029	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[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	nsv880167	chr4:141616979-142092124	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv880169	chr4:142005573-142038481	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Chronic obstructive pulmonary disease-related biomarkers	23144326	GWAS catalog

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:141996000-142006400	Weak transcription	Aorta	Aorta
2	chr4:141999200-142014000	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:142000800-142031600	Weak transcription	Right Ventricle	heart
4	chr4:142001000-142014200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr4:142001200-142012600	Weak transcription	Ovary	ovary
6	chr4:142002200-142006400	Weak transcription	Left Ventricle	heart
7	chr4:142003600-142015600	Weak transcription	Fetal Stomach	stomach
8	chr4:142003600-142021000	Weak transcription	Fetal Kidney	kidney
9	chr4:142003800-142009000	Weak transcription	Fetal Muscle Leg	muscle
10	chr4:142004200-142006400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:142004200-142006400	Enhancers	Fetal Heart	heart
12	chr4:142005000-142017800	Weak transcription	Colon Smooth Muscle	Colon

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Input of quick search could be:

dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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