Variant report

Variant	rs712084
Chromosome Location	chr1:224727753-224727754
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224726760..224729001-chr1:224731332..224734709,3	MCF-7	breast:
2	chr1:224726920..224729754-chr1:224737664..224739555,2	K562	blood:
3	chr1:224726104..224729814-chr1:224730643..224733087,3	K562	blood:

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10799582	0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10916635	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10916636	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10916637	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10916638	0.89[EUR][1000 genomes]
rs10916639	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10916640	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12033478	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12043625	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12057775	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12062991	0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12068420	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12072482	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1317810	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1499283	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs16849369	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2050625	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2794804	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2794808	0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4654047	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61825839	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61825840	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61825841	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6656824	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs698277	0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs698280	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs712068	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs712070	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs712071	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs712072	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs712073	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs712074	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs712075	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs712076	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs712082	0.84[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs712085	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs712087	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs712092	0.81[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7541415	0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs791391	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs791393	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs791508	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs791509	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs791510	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs791511	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs791512	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs880368	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs983948	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs985301	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs989755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224712000-224730800	Weak transcription	Spleen	Spleen
2	chr1:224717600-224727800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr1:224725200-224730400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr1:224726800-224732400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:224727200-224727800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr1:224727200-224728200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:224727200-224728200	Enhancers	Fetal Thymus	thymus
8	chr1:224727200-224728400	Flanking Active TSS	Dnd41	blood
9	chr1:224727200-224729800	Enhancers	NH-A	brain
10	chr1:224727200-224731600	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:224727200-224731600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr1:224727400-224727800	Weak transcription	Pancreas	Pancrea
13	chr1:224727400-224729400	Enhancers	Fetal Brain Male	brain
14	chr1:224727400-224729800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr1:224727400-224730800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr1:224727400-224731400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:224727600-224728000	Enhancers	NHDF-Ad	bronchial
18	chr1:224727600-224728200	Enhancers	Brain Anterior Caudate	brain
19	chr1:224727600-224730200	Enhancers	HUVEC	blood vessel
20	chr1:224727600-224731000	Enhancers	Monocytes-CD14+_RO01746	blood
21	chr1:224727600-224731600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:224727600-224731600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:224727600-224732800	Enhancers	HMEC	breast

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