Variant report

Variant	rs62154948
Chromosome Location	chr2:67616193-67616194
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:67615227..67617065-chr2:67621762..67624715,2	MCF-7	breast:
2	chr2:67616082..67619080-chr2:67622730..67624660,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143971	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:90)

rs_ID	r²[population]
rs10496153	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1063571	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12185591	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12185702	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12988210	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12991090	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12996359	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13000557	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13004747	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13004765	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13009070	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13015319	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13015349	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13016330	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13016336	0.86[EUR][1000 genomes]
rs13017696	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13018272	0.82[AMR][1000 genomes]
rs13018894	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13026513	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13030037	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13030211	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13034744	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13035051	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13035754	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13036061	0.87[EUR][1000 genomes]
rs1521051	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17544516	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17544551	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17545245	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17545301	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17545329	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17603914	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2171176	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34103917	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34274370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34281542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34298852	0.88[AMR][1000 genomes]
rs34418651	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34493710	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34547630	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34636997	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34737312	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34920978	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34962808	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34997300	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35002490	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35141978	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35144434	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35340993	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35382600	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35503819	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35570926	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35593975	0.84[EUR][1000 genomes]
rs35607813	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35610403	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35686078	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35777125	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs36098430	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4428006	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62154898	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62154949	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62154950	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62154951	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62154952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62154955	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62154957	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62154958	0.88[EUR][1000 genomes]
rs62156688	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62156689	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62156692	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62156693	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62156695	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62156696	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62156698	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs62156699	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62156700	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62156702	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62156703	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62156754	0.94[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62156756	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62156757	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62156758	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62158289	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62158290	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6710099	0.86[EUR][1000 genomes]
rs6725762	0.84[EUR][1000 genomes]
rs71411986	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs71411987	0.88[AMR][1000 genomes]
rs71411988	0.88[AMR][1000 genomes]
rs7585807	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008584	chr2:67168244-67703601	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535775	chr2:67168244-67703601	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv534389	chr2:67388428-68225338	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
4	nsv834249	chr2:67515471-67691605	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3335541	chr2:67577544-67773907	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:67601800-67616200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr2:67602200-67617000	Weak transcription	Aorta	Aorta
3	chr2:67606600-67624200	Weak transcription	Pancreas	Pancrea
4	chr2:67613200-67621600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:67613800-67616200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:67615200-67618000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:67615600-67617800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr2:67615600-67617800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr2:67615600-67617800	Enhancers	Muscle Satellite Cultured Cells	--
10	chr2:67615600-67618800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr2:67615800-67616200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr2:67615800-67616600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:67615800-67617200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:67615800-67617200	Enhancers	Ovary	ovary
15	chr2:67615800-67617400	Enhancers	NH-A	brain
16	chr2:67615800-67617600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:67615800-67617600	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr2:67615800-67617800	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:67615800-67617800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr2:67615800-67617800	Enhancers	HSMM	muscle
21	chr2:67615800-67617800	Enhancers	HUVEC	blood vessel
22	chr2:67615800-67617800	Enhancers	NHDF-Ad	bronchial
23	chr2:67615800-67618000	Enhancers	NHLF	lung
24	chr2:67615800-67618000	Enhancers	Osteobl	bone
25	chr2:67615800-67618600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr2:67615800-67618600	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr2:67616000-67616800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:67616000-67617000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:67616000-67617200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:67616000-67617200	Enhancers	Fetal Kidney	kidney
31	chr2:67616000-67617200	Enhancers	Fetal Stomach	stomach
32	chr2:67616000-67617200	Enhancers	HMEC	breast
33	chr2:67616000-67617400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:67616000-67617400	Enhancers	Hela-S3	cervix
35	chr2:67616000-67617600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:67616000-67617600	Enhancers	H9 Cell Line	embryonic stem cell
37	chr2:67616000-67617600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
38	chr2:67616000-67617600	Enhancers	Colon Smooth Muscle	Colon
39	chr2:67616000-67617800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:67616000-67617800	Enhancers	Fetal Lung	lung
41	chr2:67616000-67617800	Enhancers	HSMMtube	muscle
42	chr2:67616000-67618000	Enhancers	H1 Cell Line	embryonic stem cell

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