Variant report

Variant	rs12138777
Chromosome Location	chr1:62694174-62694175
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	chr1:62686213..62688667-chr1:62693403..62696212,2	K562	blood:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1050334	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10789107	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10889309	0.97[ASN][1000 genomes]
rs10889310	0.83[ASN][1000 genomes]
rs10889313	0.95[ASN][1000 genomes]
rs10889315	0.93[ASN][1000 genomes]
rs11207937	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11207941	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11207942	0.90[ASN][1000 genomes]
rs11207943	0.95[ASN][1000 genomes]
rs11207944	0.95[ASN][1000 genomes]
rs11207945	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11207946	0.95[ASN][1000 genomes]
rs11207947	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11207948	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12030846	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12089897	0.97[ASN][1000 genomes]
rs12096118	0.82[ASN][1000 genomes]
rs12120789	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12131947	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12144282	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2067994	0.95[ASN][1000 genomes]
rs2457812	0.82[ASN][1000 genomes]
rs2481689	0.81[ASN][1000 genomes]
rs2666478	0.81[ASN][1000 genomes]
rs2774928	0.97[ASN][1000 genomes]
rs41289438	0.96[ASN][1000 genomes]
rs4322258	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55673263	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs56318037	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs61775734	0.96[ASN][1000 genomes]
rs61775736	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61775737	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6656220	0.84[EUR][1000 genomes]
rs6660963	0.95[ASN][1000 genomes]
rs6664672	0.82[ASN][1000 genomes]
rs6671554	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6680953	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6688986	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6696307	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6696486	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7553446	0.95[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	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
2	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
3	nsv1009398	chr1:62656660-62780644	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62666000-62695400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:62682400-62694600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:62689400-62694200	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr1:62689400-62694400	Strong transcription	H9 Cell Line	embryonic stem cell
5	chr1:62689400-62695800	Weak transcription	Colonic Mucosa	Colon
6	chr1:62689600-62694400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
7	chr1:62689600-62695600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr1:62691800-62694400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr1:62692200-62697400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:62693400-62694200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr1:62693400-62694200	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr1:62693400-62694400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr1:62693400-62694800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr1:62693400-62694800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr1:62693400-62695400	Enhancers	Fetal Muscle Trunk	muscle
16	chr1:62693400-62696200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr1:62693400-62696200	Enhancers	Fetal Muscle Leg	muscle
18	chr1:62693400-62697400	Enhancers	Placenta Amnion	Placenta Amnion
19	chr1:62693600-62696600	Genic enhancers	H1 Cell Line	embryonic stem cell
20	chr1:62693600-62696600	Enhancers	Fetal Stomach	stomach
21	chr1:62693600-62700800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:62693600-62700800	Enhancers	Placenta	Placenta
23	chr1:62693800-62694600	Enhancers	Hela-S3	cervix
24	chr1:62693800-62696000	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr1:62694000-62694600	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr1:62694000-62694800	Enhancers	Fetal Lung	lung
27	chr1:62694000-62695000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr1:62694000-62695800	Flanking Active TSS	HepG2	liver
29	chr1:62694000-62696000	Genic enhancers	HUES6 Cell Line	embryonic stem cell
30	chr1:62694000-62696600	Genic enhancers	HUES48 Cell Line	embryonic stem cell

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