Variant report

Variant	rs2454195
Chromosome Location	chr1:179714032-179714033
allele	G/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: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs1052447	1.00[ASN][1000 genomes]
rs10798718	1.00[ASN][1000 genomes]
rs10798719	0.99[ASN][1000 genomes]
rs10798720	0.99[ASN][1000 genomes]
rs10798721	0.99[ASN][1000 genomes]
rs10913874	1.00[ASN][1000 genomes]
rs10913876	1.00[ASN][1000 genomes]
rs10913877	1.00[ASN][1000 genomes]
rs10913878	1.00[ASN][1000 genomes]
rs10913879	0.99[ASN][1000 genomes]
rs11588754	0.80[ASN][1000 genomes]
rs12047821	0.99[ASN][1000 genomes]
rs12408874	1.00[ASN][1000 genomes]
rs12408882	1.00[ASN][1000 genomes]
rs2245195	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2245610	0.85[ASN][1000 genomes]
rs2245702	0.85[ASN][1000 genomes]
rs2318389	1.00[ASN][1000 genomes]
rs2454193	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2454196	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2454197	0.87[ASN][1000 genomes]
rs2487739	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2487740	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2504032	0.82[ASN][1000 genomes]
rs2504033	0.82[ASN][1000 genomes]
rs2504035	0.85[ASN][1000 genomes]
rs2504038	0.85[ASN][1000 genomes]
rs2504039	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2504040	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2504041	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2504042	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2504043	0.85[ASN][1000 genomes]
rs2504048	0.85[ASN][1000 genomes]
rs2504049	0.85[ASN][1000 genomes]
rs2504053	0.93[ASN][1000 genomes]
rs3845381	1.00[ASN][1000 genomes]
rs3845382	0.96[ASN][1000 genomes]
rs3845383	0.95[ASN][1000 genomes]
rs3856045	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3909014	0.99[ASN][1000 genomes]
rs3909015	1.00[ASN][1000 genomes]
rs4269737	0.91[ASN][1000 genomes]
rs4469684	1.00[ASN][1000 genomes]
rs4511077	1.00[ASN][1000 genomes]
rs4651050	0.96[ASN][1000 genomes]
rs60556788	0.97[ASN][1000 genomes]
rs61828370	0.99[ASN][1000 genomes]
rs6663482	1.00[ASN][1000 genomes]
rs7365663	0.90[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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