Variant report

Variant	rs1250881
Chromosome Location	chr1:76287250-76287251
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:76257881..76260713-chr1:76287046..76289517,2	K562	blood:

Variant related genes	Relation type
ENSG00000137955	Chromatin interaction

Extended variants
information (count: 74 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10873724	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10873727	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10873728	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10873735	0.84[ASN][1000 genomes]
rs10873738	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10873739	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11161700	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11161704	0.90[ASN][1000 genomes]
rs11161790	0.85[ASN][1000 genomes]
rs11161795	0.85[ASN][1000 genomes]
rs1144328	0.90[ASN][1000 genomes]
rs1144331	0.90[ASN][1000 genomes]
rs1144333	0.90[ASN][1000 genomes]
rs1144337	0.90[ASN][1000 genomes]
rs1144338	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1144339	0.90[ASN][1000 genomes]
rs1144341	0.90[ASN][1000 genomes]
rs1144342	0.90[ASN][1000 genomes]
rs1146593	0.81[ASN][1000 genomes]
rs1146602	0.84[ASN][1000 genomes]
rs1146616	0.85[ASN][1000 genomes]
rs1146625	0.81[ASN][1000 genomes]
rs1146645	0.90[ASN][1000 genomes]
rs1146647	0.90[ASN][1000 genomes]
rs1146648	0.94[ASN][1000 genomes]
rs1146649	0.89[ASN][1000 genomes]
rs1146651	0.90[ASN][1000 genomes]
rs1146652	0.90[ASN][1000 genomes]
rs1146656	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11579355	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12024086	0.85[ASN][1000 genomes]
rs12076093	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12078151	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12081710	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12090712	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12385715	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12401729	0.87[ASN][1000 genomes]
rs12403889	0.87[ASN][1000 genomes]
rs12405178	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1250882	0.90[ASN][1000 genomes]
rs1251270	0.90[ASN][1000 genomes]
rs1251272	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1251273	0.90[ASN][1000 genomes]
rs1251274	0.90[ASN][1000 genomes]
rs1251275	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12703	0.90[ASN][1000 genomes]
rs12724860	0.82[ASN][1000 genomes]
rs12748900	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1812589	0.93[ASN][1000 genomes]
rs2012536	0.90[ASN][1000 genomes]
rs34045364	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34177389	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35591768	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36054685	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4347163	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4949884	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5019550	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56350137	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5745327	0.90[ASN][1000 genomes]
rs5745343	0.90[ASN][1000 genomes]
rs5745354	0.90[ASN][1000 genomes]
rs5745392	0.90[ASN][1000 genomes]
rs61676733	0.87[ASN][1000 genomes]
rs71656856	0.81[ASN][1000 genomes]
rs7514912	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7548391	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv519329	chr1:75830438-76358591	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1014072	chr1:76200531-76460726	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv535005	chr1:76200531-76460726	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	esv1795237	chr1:76268573-76383565	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	esv1800125	chr1:76269439-76379497	Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv1799260	chr1:76269439-76383297	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	esv1847721	chr1:76269439-76383565	Weak transcription ZNF genes & repeats Enhancers Strong transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1466	chr1:76280957-76299478	ZNF genes & repeats Weak transcription Enhancers Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:76262600-76288800	Weak transcription	Brain Substantia Nigra	brain
2	chr1:76262600-76294600	Weak transcription	Primary B cells from cord blood	blood
3	chr1:76263000-76287400	Weak transcription	Aorta	Aorta
4	chr1:76263000-76289000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:76263000-76296200	Weak transcription	Ovary	ovary
6	chr1:76263400-76289000	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:76264200-76291400	Weak transcription	Psoas Muscle	Psoas
8	chr1:76264600-76288600	Weak transcription	Left Ventricle	heart
9	chr1:76264800-76288600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:76264800-76288600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:76279600-76288600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:76282200-76295200	Weak transcription	Right Ventricle	heart
13	chr1:76287200-76289000	Weak transcription	Stomach Smooth Muscle	stomach

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