Variant report

Variant	rs12030846
Chromosome Location	chr1:62705801-62705802
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	chr1:62679033..62681110-chr1:62704985..62707822,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1050334	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10889309	0.92[ASN][1000 genomes]
rs10889310	0.81[ASN][1000 genomes]
rs10889312	0.83[AMR][1000 genomes]
rs10889313	0.92[ASN][1000 genomes]
rs10889315	0.91[ASN][1000 genomes]
rs11207941	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs11207942	1.00[ASN][1000 genomes]
rs11207943	0.92[ASN][1000 genomes]
rs11207944	0.92[ASN][1000 genomes]
rs11207945	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11207946	0.92[ASN][1000 genomes]
rs11207947	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11207948	0.87[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12089897	0.92[ASN][1000 genomes]
rs12096118	0.82[AMR][1000 genomes]
rs12120789	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12138777	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12144282	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2067994	0.92[ASN][1000 genomes]
rs2774928	0.92[ASN][1000 genomes]
rs41289438	0.93[ASN][1000 genomes]
rs4322258	0.80[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs55673263	0.80[ASN][1000 genomes]
rs61775734	0.93[ASN][1000 genomes]
rs61775736	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs61775737	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6660963	0.92[ASN][1000 genomes]
rs6680953	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6688986	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6696307	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6696486	0.81[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7553446	0.92[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	chr1:62697000-62706600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:62699000-62706600	Weak transcription	Fetal Lung	lung
3	chr1:62699000-62706800	Weak transcription	Pancreas	Pancrea
4	chr1:62701000-62707400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:62701000-62710800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:62701400-62709400	Weak transcription	Fetal Intestine Small	intestine
7	chr1:62702200-62706800	Weak transcription	Liver	Liver
8	chr1:62703800-62707000	Weak transcription	Fetal Kidney	kidney
9	chr1:62704000-62706400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:62704000-62706600	Weak transcription	Fetal Heart	heart
11	chr1:62704000-62706600	Weak transcription	HSMM	muscle
12	chr1:62704000-62710600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:62704000-62711400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr1:62704000-62720600	Weak transcription	Right Atrium	heart
15	chr1:62704200-62706400	Weak transcription	Fetal Muscle Leg	muscle
16	chr1:62704200-62706400	Weak transcription	Placenta	Placenta
17	chr1:62704200-62706400	Weak transcription	HMEC	breast
18	chr1:62704200-62706600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:62704200-62706800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:62704200-62706800	Weak transcription	HSMMtube	muscle
21	chr1:62704200-62711600	Weak transcription	Adipose Nuclei	Adipose
22	chr1:62704200-62712000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:62704400-62706000	Weak transcription	Fetal Stomach	stomach
24	chr1:62704400-62706400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr1:62704400-62706400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr1:62704400-62706400	Weak transcription	A549	lung
27	chr1:62704400-62706600	Weak transcription	Hela-S3	cervix
28	chr1:62704400-62713200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:62704600-62706400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:62705000-62706400	Weak transcription	HepG2	liver

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