Variant report

Variant	rs72687924
Chromosome Location	chr1:113972547-113972548
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	chr1:113931413..113934356-chr1:113971943..113975080,3	MCF-7	breast:
2	chr1:113969097..113970907-chr1:113971568..113973801,2	K562	blood:

Variant related genes	Relation type
ENSG00000081026	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10458458	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10458459	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10857994	0.80[ASN][1000 genomes]
rs11102627	0.99[ASN][1000 genomes]
rs11102628	0.99[ASN][1000 genomes]
rs11102630	0.99[ASN][1000 genomes]
rs11102636	0.82[EUR][1000 genomes]
rs11102637	0.82[EUR][1000 genomes]
rs11102638	0.82[EUR][1000 genomes]
rs11102640	0.82[EUR][1000 genomes]
rs11102641	0.82[EUR][1000 genomes]
rs11102644	0.82[EUR][1000 genomes]
rs1112085	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1112543	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12021783	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12022213	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12022849	1.00[AFR][1000 genomes]
rs12023641	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12024139	1.00[AFR][1000 genomes]
rs12024428	0.90[ASN][1000 genomes]
rs12025806	0.82[EUR][1000 genomes]
rs12026005	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12026682	1.00[AFR][1000 genomes]
rs12029305	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12030900	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12032395	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12033666	0.82[EUR][1000 genomes]
rs12034178	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12038473	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12038754	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12039226	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12039669	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12039944	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12043827	0.87[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs12044485	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12045148	1.00[AFR][1000 genomes]
rs12045559	0.81[EUR][1000 genomes]
rs12046450	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs12046451	1.00[AFR][1000 genomes]
rs12049093	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12567622	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12568854	0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1418607	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1539411	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1573996	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs1936926	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1936927	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs1936928	0.82[EUR][1000 genomes]
rs2027536	0.91[ASN][1000 genomes]
rs2027537	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2359413	1.00[AFR][1000 genomes]
rs2884705	1.00[AFR][1000 genomes]
rs4839320	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55737954	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6688827	0.93[ASN][1000 genomes]
rs72687938	0.82[EUR][1000 genomes]
rs72687939	0.82[EUR][1000 genomes]
rs72687944	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72687947	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72687948	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs72687949	0.82[EUR][1000 genomes]
rs72687961	1.00[AFR][1000 genomes]
rs7413018	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9787276	0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 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	chr1:113940200-113987000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:113964400-113974200	Weak transcription	A549	lung
3	chr1:113966800-113986600	Weak transcription	Fetal Intestine Small	intestine
4	chr1:113967400-113977400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr1:113970000-113986600	Weak transcription	Esophagus	oesophagus
6	chr1:113970200-113973600	Weak transcription	Gastric	stomach
7	chr1:113971800-113973400	Enhancers	Stomach Mucosa	stomach
8	chr1:113972000-113972600	Enhancers	Pancreas	Pancrea
9	chr1:113972000-113972600	Enhancers	Psoas Muscle	Psoas
10	chr1:113972000-113973000	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr1:113972000-113973200	Enhancers	HepG2	liver
12	chr1:113972000-113973800	Enhancers	Liver	Liver
13	chr1:113972200-113972600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:113972200-113972600	Enhancers	Left Ventricle	heart
15	chr1:113972200-113976800	Weak transcription	Right Atrium	heart
16	chr1:113972400-113973000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:113972400-113973800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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