Variant report

Variant	rs72949197
Chromosome Location	chr2:110273878-110273879
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:110273676..110274668-chr2:110298391..110299091,2	K562	blood:
2	chr2:110273684..110274551-chr2:110303700..110304336,2	MCF-7	breast:
3	chr2:110273703..110274218-chr2:110493544..110494330,2	MCF-7	breast:
4	chr2:110273525..110274131-chr2:110493868..110494433,2	K562	blood:
5	chr2:110262467..110264874-chr2:110272739..110275186,2	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10172301	0.81[AFR][1000 genomes]
rs10205396	0.81[AFR][1000 genomes]
rs10211151	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10211233	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10496431	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11265637	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12612457	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12619004	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12622443	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13385504	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs13410569	0.81[AFR][1000 genomes]
rs13418791	0.81[AFR][1000 genomes]
rs2903696	0.82[AMR][1000 genomes]
rs3886070	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56840594	0.82[AMR][1000 genomes]
rs58360057	0.87[AMR][1000 genomes]
rs58602175	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs58958362	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59185208	0.87[AMR][1000 genomes]
rs59328146	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs60524887	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61354480	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61398276	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61449947	0.87[AMR][1000 genomes]
rs717188	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72936474	0.81[AFR][1000 genomes]
rs72936475	0.81[AFR][1000 genomes]
rs72936476	0.81[AFR][1000 genomes]
rs72936477	0.81[AFR][1000 genomes]
rs72936479	0.81[AFR][1000 genomes]
rs72936482	0.81[AFR][1000 genomes]
rs72936489	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72938233	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72938234	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs72938241	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72938253	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72938256	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72938267	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72938273	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72938290	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72940203	0.87[AMR][1000 genomes]
rs72940214	0.87[AMR][1000 genomes]
rs72940230	0.87[AMR][1000 genomes]
rs72940234	0.87[AMR][1000 genomes]
rs72949195	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72949199	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72949201	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72951003	0.81[AFR][1000 genomes]
rs72951006	0.81[AFR][1000 genomes]
rs72951007	0.81[AFR][1000 genomes]
rs72951010	0.81[AFR][1000 genomes]
rs72951017	0.81[AFR][1000 genomes]
rs730988	0.87[AMR][1000 genomes]
rs9677119	0.82[ASN][1000 genomes]
rs9798372	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874780	chr2:110078080-110432886	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110257800-110287800	Weak transcription	Gastric	stomach
2	chr2:110267800-110287600	Weak transcription	Right Atrium	heart
3	chr2:110271000-110275000	Weak transcription	Brain Germinal Matrix	brain
4	chr2:110271200-110280400	Weak transcription	Fetal Kidney	kidney
5	chr2:110271200-110285400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:110271400-110278800	Weak transcription	Lung	lung
7	chr2:110272200-110274000	Enhancers	GM12878-XiMat	blood
8	chr2:110272200-110274800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:110272400-110274200	Weak transcription	Placenta	Placenta
10	chr2:110272400-110274400	Enhancers	Stomach Smooth Muscle	stomach
11	chr2:110272400-110274600	Weak transcription	Fetal Thymus	thymus
12	chr2:110272400-110274800	Weak transcription	NHEK	skin
13	chr2:110272400-110275000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:110272400-110276800	Weak transcription	HMEC	breast
15	chr2:110272600-110274600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:110272800-110275000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:110272800-110283000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:110273000-110275200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
19	chr2:110273200-110274600	Weak transcription	Rectal Smooth Muscle	rectum
20	chr2:110273400-110276000	Enhancers	Esophagus	oesophagus
21	chr2:110273600-110274000	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr2:110273600-110274400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:110273800-110274000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr2:110273800-110274000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
25	chr2:110273800-110274000	Enhancers	Right Ventricle	heart
26	chr2:110273800-110274200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:110273800-110274200	Enhancers	A549	lung
28	chr2:110273800-110274800	Flanking Bivalent TSS/Enh	HepG2	liver

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