Variant report

Variant	rs73090938
Chromosome Location	chr1:227720099-227720100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:227718832..227721414-chr1:227723108..227725782,2	K562	blood:

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs12089076	1.00[AMR][1000 genomes]
rs12563117	1.00[EUR][1000 genomes]
rs12563564	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12564736	1.00[EUR][1000 genomes]
rs12564917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565099	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12565618	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12565653	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12567084	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12567934	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1323021	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13373816	1.00[EUR][1000 genomes]
rs16841323	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847822	1.00[AMR][1000 genomes]
rs16847912	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847926	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847929	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847948	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16847987	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16848026	1.00[EUR][1000 genomes]
rs16848044	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16859962	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860227	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17492440	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17492447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2101862	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2313220	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34984248	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35703429	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4462138	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57165550	1.00[AMR][1000 genomes]
rs58322371	1.00[AMR][1000 genomes]
rs58961542	0.94[ASN][1000 genomes]
rs59404931	1.00[AMR][1000 genomes]
rs59461077	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59772630	1.00[AMR][1000 genomes]
rs60835672	1.00[AMR][1000 genomes]
rs61283390	1.00[AMR][1000 genomes]
rs6665512	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6675470	1.00[AMR][1000 genomes]
rs73088936	1.00[AMR][1000 genomes]
rs73090912	1.00[AMR][1000 genomes]
rs73090935	1.00[AMR][1000 genomes]
rs73090936	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090937	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090942	1.00[AMR][1000 genomes]
rs73090947	1.00[AMR][1000 genomes]
rs73090948	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090952	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090954	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73090959	1.00[AMR][1000 genomes]
rs73090985	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090986	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090987	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090994	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73090995	1.00[AMR][1000 genomes]
rs73091000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73092604	1.00[AMR][1000 genomes]
rs73092607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73092610	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73092646	1.00[AMR][1000 genomes]
rs73092653	1.00[AMR][1000 genomes]
rs73092661	1.00[AMR][1000 genomes]
rs73092665	1.00[AMR][1000 genomes]
rs73093304	1.00[AMR][1000 genomes]
rs73093319	1.00[AMR][1000 genomes]
rs73094528	1.00[AMR][1000 genomes]
rs73094536	1.00[AMR][1000 genomes]
rs73094538	1.00[AMR][1000 genomes]
rs73094556	1.00[AMR][1000 genomes]
rs73094558	1.00[AMR][1000 genomes]
rs73094561	1.00[AMR][1000 genomes]
rs73094571	1.00[AMR][1000 genomes]
rs73099300	1.00[AMR][1000 genomes]
rs73099302	1.00[AMR][1000 genomes]
rs73101625	1.00[AMR][1000 genomes]
rs73101653	1.00[AMR][1000 genomes]
rs73102372	1.00[AMR][1000 genomes]
rs73102384	1.00[AMR][1000 genomes]
rs73102391	1.00[AMR][1000 genomes]
rs73104364	1.00[AMR][1000 genomes]
rs7526436	1.00[AMR][1000 genomes]
rs7533013	0.94[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs7546845	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7554851	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7554870	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs996226	1.00[EUR][1000 genomes];0.81[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	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
2	esv2753828	chr1:227670265-227791265	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv873244	chr1:227682414-227736363	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv873246	chr1:227694948-227884465	Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1007479	chr1:227695868-227984466	Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	nsv873247	chr1:227697381-227736363	Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv873248	chr1:227710381-227786033	ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	nsv945338	chr1:227712483-227722545	ZNF genes & repeats Weak transcription Enhancers	TF binding region Chromatin interactive region	2 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	chr1:227714200-227721800	ZNF genes & repeats	Liver	Liver
2	chr1:227715600-227721600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:227718000-227721000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
4	chr1:227718600-227723200	Weak transcription	Psoas Muscle	Psoas
5	chr1:227719400-227721000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr1:227719600-227720400	ZNF genes & repeats	Esophagus	oesophagus
7	chr1:227719600-227720400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
8	chr1:227719600-227720600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:227719600-227720800	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:227719600-227720800	ZNF genes & repeats	Pancreas	Pancrea
11	chr1:227719800-227720600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr1:227719800-227720600	Enhancers	Hela-S3	cervix
13	chr1:227719800-227720800	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:227719800-227720800	Enhancers	K562	blood
15	chr1:227719800-227721200	ZNF genes & repeats	Aorta	Aorta
16	chr1:227720000-227720800	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:227720000-227722000	ZNF genes & repeats	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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