Variant report

No.	Distal block	Cell Line	Cell type
1	chr1:226199050..226201994-chr1:226204544..226206828,2	MCF-7	breast:
2	chr1:226203662..226205459-chr1:226246341..226248870,2	MCF-7	breast:
3	chr1:226204301..226206286-chr1:226208154..226209970,2	K562	blood:
4	chr1:226203798..226206623-chr1:226296262..226299570,3	K562	blood:
5	chr1:226200556..226204840-chr1:226247964..226254138,7	K562	blood:
6	chr1:226203828..226207254-chr1:226210846..226213175,3	K562	blood:

Variant related genes	Relation type
ENSG00000272562	Chromatin interaction
ENSG00000163041	Chromatin interaction

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11580276	0.81[AFR][1000 genomes]
rs11586667	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11590226	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11808474	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11809941	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16845468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1998273	0.83[EUR][1000 genomes]
rs2666859	1.00[CHB][hapmap]
rs2816323	0.86[EUR][1000 genomes]
rs2816324	0.86[EUR][1000 genomes]
rs2816326	0.81[EUR][1000 genomes]
rs34563765	0.94[AFR][1000 genomes]
rs3795442	0.86[JPT][hapmap]
rs66514719	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66791434	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6681666	0.86[JPT][hapmap]
rs66934363	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67269884	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67523369	0.90[EUR][1000 genomes]
rs73100512	0.90[EUR][1000 genomes]
rs73100535	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv832747	chr1:226194143-226373415	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 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	chr1:226203400-226204800	Weak transcription	Spleen	Spleen
2	chr1:226203400-226207200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:226204200-226204800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:226204200-226205000	Enhancers	Brain Substantia Nigra	brain
5	chr1:226204200-226206000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr1:226204400-226205000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:226204400-226205200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr1:226204400-226205200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:226204400-226205600	Enhancers	Primary hematopoietic stem cells	blood
10	chr1:226204400-226205600	Enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr1:226204600-226205000	Enhancers	K562	blood
12	chr1:226204600-226205200	Enhancers	Brain Cingulate Gyrus	brain
13	chr1:226204600-226205200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:226204600-226210600	Weak transcription	Colonic Mucosa	Colon

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