Variant report

Variant	rs2157454
Chromosome Location	chr1:172863992-172863993
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	chr1:172859088..172861490-chr1:172863508..172865755,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10489276	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912488	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10912490	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10912491	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12021711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12025176	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12037853	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12047983	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12136659	0.84[EUR][1000 genomes]
rs12403628	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12411259	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12728265	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12739009	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12747422	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12748081	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2157453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2187892	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2213742	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2213745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35715673	0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4145468	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4916198	0.87[EUR][1000 genomes]
rs4916283	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4916285	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55724017	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6425143	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6425145	0.94[EUR][1000 genomes]
rs6425146	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6661686	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6672776	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6699678	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68143871	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7517810	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7527462	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9286879	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv3587	chr1:172836950-172882218	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:172862000-172864000	Enhancers	A549	lung
2	chr1:172862000-172864200	Enhancers	Skeletal Muscle Male	skeletal muscle
3	chr1:172862200-172864400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:172862600-172865200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:172862800-172864000	Weak transcription	HSMM	muscle
6	chr1:172862800-172864200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:172862800-172864200	Weak transcription	Ovary	ovary
8	chr1:172862800-172864400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr1:172862800-172864400	Weak transcription	NH-A	brain
10	chr1:172862800-172866800	Weak transcription	HMEC	breast
11	chr1:172863000-172864000	Weak transcription	Right Atrium	heart
12	chr1:172863000-172864000	Enhancers	Hela-S3	cervix
13	chr1:172863000-172864200	Enhancers	HUVEC	blood vessel
14	chr1:172863000-172864200	Weak transcription	NHDF-Ad	bronchial
15	chr1:172863000-172864400	Weak transcription	Osteobl	bone
16	chr1:172863200-172864000	Weak transcription	Small Intestine	intestine
17	chr1:172863200-172864200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:172863400-172864000	Enhancers	Primary B cells from cord blood	blood
19	chr1:172863400-172864000	Enhancers	Primary T cells from cord blood	blood
20	chr1:172863400-172864000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
21	chr1:172863400-172864200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr1:172863400-172864200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr1:172863400-172864400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:172863400-172864600	Enhancers	K562	blood
25	chr1:172863400-172865200	Enhancers	Primary B cells from peripheral blood	blood
26	chr1:172863400-172865200	Enhancers	Primary hematopoietic stem cells	blood
27	chr1:172863600-172864200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:172863600-172864200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:172863600-172864200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:172863600-172864200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:172863600-172864200	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr1:172863600-172864200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr1:172863600-172864200	Enhancers	NHLF	lung
34	chr1:172863600-172864600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr1:172863600-172864600	Enhancers	Thymus	Thymus
36	chr1:172863600-172865000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:172863600-172865200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:172863600-172865200	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr1:172863600-172865200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr1:172863600-172865200	Enhancers	Stomach Mucosa	stomach
41	chr1:172863600-172865800	Enhancers	Placenta Amnion	Placenta Amnion
42	chr1:172863800-172864000	Enhancers	Adipose Nuclei	Adipose
43	chr1:172863800-172864200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
44	chr1:172863800-172864200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
45	chr1:172863800-172864200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr1:172863800-172864200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
47	chr1:172863800-172864200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr1:172863800-172864200	Enhancers	Fetal Thymus	thymus
49	chr1:172863800-172864200	Flanking Active TSS	NHEK	skin
50	chr1:172863800-172864400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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