Variant report

Variant	rs723577
Chromosome Location	chr3:46442223-46442224
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46441887..46442673-chr3:46529916..46530717,2	K562	blood:
2	chr3:46434903..46437048-chr3:46441452..46445081,4	K562	blood:
3	chr3:46436463..46438554-chr3:46441253..46442786,2	K562	blood:
4	chr3:46427138..46428924-chr3:46441384..46443422,2	K562	blood:
5	chr3:46441114..46442760-chr3:46445695..46448198,2	MCF-7	breast:

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11574431	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11574437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11574439	1.00[AMR][1000 genomes]
rs11574440	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11574441	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11575814	1.00[EUR][1000 genomes]
rs11575817	1.00[EUR][1000 genomes]
rs11575818	1.00[EUR][1000 genomes]
rs11575822	1.00[EUR][1000 genomes]
rs13327723	1.00[EUR][1000 genomes]
rs17141003	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17141076	1.00[EUR][1000 genomes]
rs17842821	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17842822	1.00[EUR][1000 genomes]
rs2097285	0.92[AFR][1000 genomes]
rs2373253	1.00[EUR][1000 genomes]
rs3136536	1.00[EUR][1000 genomes]
rs3176763	1.00[EUR][1000 genomes]
rs3181037	1.00[EUR][1000 genomes]
rs35212534	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3918370	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41495153	1.00[EUR][1000 genomes]
rs55951695	1.00[EUR][1000 genomes]
rs56062522	1.00[EUR][1000 genomes]
rs57509359	1.00[EUR][1000 genomes]
rs57761566	1.00[EUR][1000 genomes]
rs58966767	1.00[EUR][1000 genomes]
rs59998539	1.00[EUR][1000 genomes]
rs60350631	1.00[EUR][1000 genomes]
rs61737000	1.00[EUR][1000 genomes]
rs6441969	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6770833	1.00[EUR][1000 genomes]
rs6798819	1.00[EUR][1000 genomes]
rs6801203	1.00[EUR][1000 genomes]
rs73831107	1.00[EUR][1000 genomes]
rs7611447	1.00[EUR][1000 genomes]
rs7614209	1.00[EUR][1000 genomes]
rs7638702	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7640084	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7640708	1.00[EUR][1000 genomes]
rs7650273	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7652954	1.00[EUR][1000 genomes]
rs9282632	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer 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	42 gene(s)	inside rSNPs	diseases
2	esv3323840	chr3:46352348-46497196	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv3389382	chr3:46352798-46496696	Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv2756988	chr3:46419634-46444794	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv2759146	chr3:46419634-46444794	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46425800-46446600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:46428000-46448400	Weak transcription	Primary T cells from cord blood	blood
3	chr3:46437200-46446800	Weak transcription	Hela-S3	cervix
4	chr3:46437600-46445000	Weak transcription	Fetal Intestine Small	intestine
5	chr3:46438200-46443000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:46438600-46447000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr3:46438800-46447200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr3:46438800-46459800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:46439200-46448200	Weak transcription	Left Ventricle	heart
10	chr3:46439600-46448400	Weak transcription	Psoas Muscle	Psoas
11	chr3:46440400-46443000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:46440400-46443000	Enhancers	K562	blood
13	chr3:46440600-46442400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr3:46440600-46442800	Enhancers	NHLF	lung
15	chr3:46440800-46442400	Enhancers	Fetal Heart	heart
16	chr3:46441000-46442400	Enhancers	HSMMtube	muscle
17	chr3:46441000-46446200	Weak transcription	Adipose Nuclei	Adipose
18	chr3:46441200-46442400	Enhancers	HSMM	muscle
19	chr3:46441600-46442400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:46441600-46446000	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr3:46441600-46446200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr3:46441800-46442600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr3:46441800-46442800	Enhancers	Fetal Lung	lung
24	chr3:46441800-46445800	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr3:46441800-46446400	Weak transcription	HUVEC	blood vessel
26	chr3:46442200-46442400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr3:46442200-46442400	Enhancers	Stomach Mucosa	stomach
28	chr3:46442200-46442400	Enhancers	Spleen	Spleen
29	chr3:46442200-46442400	Enhancers	Osteobl	bone
30	chr3:46442200-46445000	Weak transcription	Lung	lung

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