Variant report

Variant	rs73006276
Chromosome Location	chr2:144860421-144860422
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	chr2:144839334..144841490-chr2:144858861..144860690,2	K562	blood:

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10496955	1.00[EUR][1000 genomes]
rs10496958	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10496959	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10496960	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12328646	1.00[EUR][1000 genomes]
rs16823430	1.00[EUR][1000 genomes]
rs16823453	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16823456	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16823477	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs16823483	1.00[EUR][1000 genomes]
rs16823486	1.00[EUR][1000 genomes]
rs16823490	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823495	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16823497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823498	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823501	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823512	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823515	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823517	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823525	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823539	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823540	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823544	1.00[AMR][1000 genomes]
rs16823552	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823556	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823563	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16823564	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16855310	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2042997	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57517882	1.00[EUR][1000 genomes]
rs58046208	1.00[EUR][1000 genomes]
rs58057530	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59638652	1.00[EUR][1000 genomes]
rs6430049	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6430051	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6430052	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6709167	1.00[EUR][1000 genomes]
rs6719927	1.00[EUR][1000 genomes]
rs6733058	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6736292	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6746667	1.00[EUR][1000 genomes]
rs6747751	1.00[EUR][1000 genomes]
rs6760118	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72992116	1.00[EUR][1000 genomes]
rs73006231	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73006237	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73006242	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73006264	1.00[EUR][1000 genomes]
rs73006270	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73006274	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73006279	1.00[EUR][1000 genomes]
rs73006286	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006287	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006289	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006290	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006297	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006298	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73006302	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008203	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008204	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008206	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008211	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008212	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008213	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008221	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008238	1.00[AMR][1000 genomes]
rs73008245	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008248	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73008250	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73964986	1.00[EUR][1000 genomes]
rs7571370	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7575019	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7585915	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7586117	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7595013	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1005376	chr2:144803630-144968946	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv1013338	chr2:144806920-144969818	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
9	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv834396	chr2:144842187-145019465	Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:144848000-144861600	Weak transcription	Ovary	ovary
2	chr2:144853000-144862200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:144854400-144862000	Weak transcription	Right Ventricle	heart
4	chr2:144854400-144862200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:144855800-144864800	Weak transcription	Right Atrium	heart
6	chr2:144857200-144861600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:144857800-144860800	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chr2:144857800-144868600	Weak transcription	K562	blood
9	chr2:144858000-144861800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:144859400-144861000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:144859400-144861000	Enhancers	HMEC	breast
12	chr2:144859400-144861000	Enhancers	NHEK	skin
13	chr2:144859600-144860600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:144859600-144861000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr2:144860200-144860800	Weak transcription	Fetal Stomach	stomach

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