Variant report

Variant	rs7516304
Chromosome Location	chr1:220490046-220490047
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10495146	0.94[MKK][hapmap]
rs10863546	0.81[ASN][1000 genomes]
rs12568631	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1397959	0.86[MKK][hapmap]
rs1397960	0.94[MKK][hapmap]
rs17007514	0.86[ASN][1000 genomes]
rs2048479	0.93[MKK][hapmap]
rs2667965	0.81[EUR][1000 genomes]
rs4272630	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4846310	1.00[ASW][hapmap];1.00[CEU][hapmap];0.87[CHD][hapmap];0.91[GIH][hapmap];0.83[LWK][hapmap];0.89[MEX][hapmap];0.85[TSI][hapmap];0.95[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4846314	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4846626	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6683491	0.94[MKK][hapmap]
rs6702901	0.98[ASN][1000 genomes]
rs7524270	0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7532002	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7534648	0.83[EUR][1000 genomes]
rs7545196	0.91[MKK][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv523114	chr1:220486349-220500958	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv945299	chr1:220487822-220491617	Enhancers Weak transcription	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv1006979	chr1:220488188-220501518	Enhancers Weak transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7516304	COL4A1	trans	lymphoblastoid	seeQTL

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:220487400-220495400	Weak transcription	Right Atrium	heart
2	chr1:220488200-220490800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:220488400-220490200	Enhancers	Adipose Nuclei	Adipose
4	chr1:220488400-220490200	Weak transcription	Right Ventricle	heart
5	chr1:220488800-220491800	Weak transcription	Left Ventricle	heart
6	chr1:220489600-220491200	Weak transcription	Fetal Heart	heart

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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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