Variant report

Variant	rs12047821
Chromosome Location	chr1:179714024-179714025
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	chr1:179713754..179715803-chr1:179723110..179724876,2	K562	blood:
2	chr1:179712622..179714301-chr1:179716150..179718228,2	K562	blood:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs1052447	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10798718	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10798719	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10798720	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10798721	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10913868	0.84[EUR][1000 genomes]
rs10913870	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10913871	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10913872	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10913874	0.99[ASN][1000 genomes]
rs10913876	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10913877	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10913878	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10913879	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11588754	0.82[ASN][1000 genomes]
rs12037882	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12403719	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12403967	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12408874	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12408882	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12562455	0.84[EUR][1000 genomes]
rs12565113	0.84[EUR][1000 genomes]
rs12737143	0.84[EUR][1000 genomes]
rs2245195	0.99[ASN][1000 genomes]
rs2245610	0.84[ASN][1000 genomes]
rs2245702	0.84[ASN][1000 genomes]
rs2318386	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2318389	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2454193	0.88[ASN][1000 genomes]
rs2454195	0.99[ASN][1000 genomes]
rs2454196	0.99[ASN][1000 genomes]
rs2454197	0.86[ASN][1000 genomes]
rs2487739	0.96[ASN][1000 genomes]
rs2487740	0.99[ASN][1000 genomes]
rs2504032	0.81[ASN][1000 genomes]
rs2504033	0.81[ASN][1000 genomes]
rs2504035	0.84[ASN][1000 genomes]
rs2504038	0.83[ASN][1000 genomes]
rs2504039	0.99[ASN][1000 genomes]
rs2504040	0.99[ASN][1000 genomes]
rs2504041	0.99[ASN][1000 genomes]
rs2504042	0.99[ASN][1000 genomes]
rs2504043	0.84[ASN][1000 genomes]
rs2504048	0.84[ASN][1000 genomes]
rs2504049	0.84[ASN][1000 genomes]
rs2504053	0.92[ASN][1000 genomes]
rs3845381	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3845382	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3845383	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3856045	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3909014	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3909015	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4266841	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4269737	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4469684	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4511077	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4565670	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4651050	0.95[ASN][1000 genomes]
rs60556788	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61828370	0.96[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6663482	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7365663	0.98[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv548339	chr1:179686244-179722827	Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179711400-179714400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
2	chr1:179711800-179714200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr1:179712600-179714400	Bivalent Enhancer	Fetal Brain Male	brain
4	chr1:179713000-179714200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
5	chr1:179713000-179715200	Bivalent/Poised TSS	Fetal Thymus	thymus
6	chr1:179713400-179714200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
7	chr1:179713400-179714600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr1:179713400-179715200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:179713600-179714200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr1:179713600-179714200	Bivalent Enhancer	Fetal Heart	heart
11	chr1:179713600-179714400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
12	chr1:179713600-179714600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr1:179713600-179715000	Bivalent Enhancer	Fetal Intestine Small	intestine
14	chr1:179713800-179714200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
15	chr1:179713800-179714200	Bivalent Enhancer	Fetal Muscle Leg	muscle
16	chr1:179713800-179714400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
17	chr1:179713800-179714400	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:179713800-179714600	Bivalent Enhancer	Fetal Stomach	stomach
19	chr1:179714000-179714200	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
20	chr1:179714000-179714200	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
21	chr1:179714000-179714200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
22	chr1:179714000-179714200	Bivalent Enhancer	Fetal Lung	lung
23	chr1:179714000-179714400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
24	chr1:179714000-179714400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:179714000-179714400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell

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