Variant report

Variant	rs471972
Chromosome Location	chr1:168701085-168701086
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10157677	1.00[CEU][hapmap];0.96[GIH][hapmap];0.81[MEX][hapmap];0.88[TSI][hapmap];0.85[EUR][1000 genomes]
rs10918976	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10918977	0.88[CEU][hapmap]
rs11585611	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11589260	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11591144	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3950134	1.00[CHD][hapmap]
rs4656616	0.85[EUR][1000 genomes]
rs585646	1.00[CEU][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61801624	0.85[EUR][1000 genomes]
rs61801626	0.85[EUR][1000 genomes]
rs662154	1.00[CEU][hapmap];0.81[MEX][hapmap];0.89[TSI][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6666794	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs737608	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7556567	0.85[EUR][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	nsv869415	chr1:168467284-169153863	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
2	nsv831836	chr1:168538779-168716956	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv831847	chr1:168669877-168850129	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:168698400-168701400	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:168698400-168703400	Weak transcription	Psoas Muscle	Psoas
3	chr1:168698400-168705800	Weak transcription	Left Ventricle	heart
4	chr1:168698400-168707400	Weak transcription	Aorta	Aorta
5	chr1:168698800-168702000	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:168698800-168704400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr1:168699000-168703200	Weak transcription	Skeletal Muscle Female	skeletal muscle
8	chr1:168699000-168703400	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:168699000-168704000	Weak transcription	Fetal Lung	lung
10	chr1:168699000-168704400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:168699200-168703400	Weak transcription	Fetal Stomach	stomach
12	chr1:168699200-168703400	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:168699200-168706600	Weak transcription	Placenta	Placenta
14	chr1:168699400-168703400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:168700200-168701800	Enhancers	Placenta Amnion	Placenta Amnion
16	chr1:168701000-168703600	Enhancers	Fetal Heart	heart
17	chr1:168701000-168710800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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

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