Variant report

Variant	rs28590276
Chromosome Location	chr2:145070121-145070122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:145069604..145072384-chr2:145073110..145075636,2	K562	blood:
2	chr2:145068763..145071658-chr2:145087290..145089082,2	MCF-7	breast:
3	chr2:145065022..145066975-chr2:145068484..145070599,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10183682	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10194389	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10194888	0.98[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs13411155	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13412245	0.83[AMR][1000 genomes]
rs13412436	1.00[AMR][1000 genomes]
rs13415613	0.81[AFR][1000 genomes]
rs13422361	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13426801	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28825442	0.81[AFR][1000 genomes]
rs6717975	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6719334	0.93[AFR][1000 genomes]
rs7559941	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7562623	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7571365	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7574640	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7594866	0.81[AFR][1000 genomes]
rs7597335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7604808	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	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
8	nsv997624	chr2:144906679-145294503	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv535952	chr2:144906679-145294503	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers 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	11 gene(s)	inside rSNPs	diseases
10	nsv532757	chr2:144922143-145263446	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
12	nsv948474	chr2:145035890-145436665	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145059600-145078000	Weak transcription	Left Ventricle	heart
2	chr2:145064000-145077600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr2:145068600-145078000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:145069000-145077800	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr2:145069000-145077800	Weak transcription	Aorta	Aorta
6	chr2:145069000-145078000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:145069000-145082000	Weak transcription	Fetal Heart	heart
8	chr2:145069600-145070400	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr2:145069600-145071000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
10	chr2:145069800-145070200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
11	chr2:145069800-145070400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:145069800-145070400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
13	chr2:145069800-145070400	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:145069800-145070400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
15	chr2:145069800-145070400	ZNF genes & repeats	HSMM	muscle
16	chr2:145069800-145070800	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr2:145069800-145070800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
18	chr2:145069800-145071000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:145069800-145071000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr2:145070000-145070200	ZNF genes & repeats	Fetal Lung	lung
21	chr2:145070000-145070200	ZNF genes & repeats	HSMMtube	muscle
22	chr2:145070000-145070200	ZNF genes & repeats	K562	blood
23	chr2:145070000-145070400	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
24	chr2:145070000-145070400	ZNF genes & repeats	Skeletal Muscle Male	skeletal muscle
25	chr2:145070000-145070600	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
26	chr2:145070000-145070800	ZNF genes & repeats	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:145070000-145070800	ZNF genes & repeats	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:145070000-145070800	ZNF genes & repeats	Fetal Muscle Leg	muscle
29	chr2:145070000-145071000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell

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