Variant report

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:223315506..223317996-chr1:223384708..223386864,2	MCF-7	breast:
2	chr1:223382291..223385274-chr1:223429285..223430974,2	MCF-7	breast:
3	chr1:223384376..223385879-chr1:223415413..223417921,2	MCF-7	breast:
4	chr1:223382567..223385980-chr1:223405719..223408418,3	K562	blood:
5	chr1:223379763..223382096-chr1:223384023..223385661,2	MCF-7	breast:
6	chr1:223374480..223376570-chr1:223382430..223385148,2	MCF-7	breast:
7	chr1:223314181..223317569-chr1:223381878..223385433,3	MCF-7	breast:
8	chr1:223350173..223351734-chr1:223383258..223385619,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236846	Chromatin interaction
ENSG00000187554	Chromatin interaction

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11485987	1.00[MEX][hapmap]
rs1612431	1.00[AMR][1000 genomes]
rs1613248	1.00[AMR][1000 genomes]
rs1640804	1.00[AMR][1000 genomes]
rs1640806	1.00[MEX][hapmap];1.00[AMR][1000 genomes]
rs1640807	1.00[AMR][1000 genomes]
rs1640808	1.00[AMR][1000 genomes]
rs1640862	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1773735	1.00[AMR][1000 genomes]
rs1773740	1.00[AMR][1000 genomes]
rs1773741	1.00[AMR][1000 genomes]
rs1773742	1.00[AMR][1000 genomes]
rs1773743	1.00[AMR][1000 genomes]
rs1773745	1.00[AMR][1000 genomes]
rs1773746	1.00[AMR][1000 genomes]
rs1773747	1.00[AMR][1000 genomes]
rs1773748	1.00[AMR][1000 genomes]
rs2430407	0.81[AFR][1000 genomes]
rs5744096	1.00[AMR][1000 genomes]
rs5744098	1.00[AMR][1000 genomes]
rs5744134	1.00[MEX][hapmap]
rs5744135	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs5744138	1.00[MEX][hapmap]
rs5744139	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs5744140	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs5744143	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs5744149	1.00[ASW][hapmap];1.00[MEX][hapmap]
rs725083	1.00[AMR][1000 genomes]
rs851148	1.00[ASW][hapmap]
rs851152	1.00[ASW][hapmap];0.85[LWK][hapmap]
rs851153	1.00[MEX][hapmap];0.81[AFR][1000 genomes]
rs851154	0.81[AFR][1000 genomes]
rs851158	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012537	chr1:222755091-223512243	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv832659	chr1:223294767-223438487	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223371200-223389800	Weak transcription	Gastric	stomach
2	chr1:223377000-223392200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr1:223379600-223388000	Enhancers	Fetal Muscle Leg	muscle
4	chr1:223381400-223389400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:223383200-223385200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:223383600-223386400	Enhancers	HSMMtube	muscle
7	chr1:223384000-223386200	Enhancers	Ovary	ovary
8	chr1:223384200-223385600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:223384400-223385000	Enhancers	Fetal Stomach	stomach
10	chr1:223384400-223385600	Enhancers	Fetal Muscle Trunk	muscle
11	chr1:223384400-223386000	Enhancers	HSMM	muscle
12	chr1:223384800-223385400	Enhancers	NH-A	brain
13	chr1:223384800-223385600	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr1:223384800-223386200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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