Variant report

Variant	rs2269436
Chromosome Location	chr3:46487253-46487254
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:46486614..46488828-chr3:46496927..46499896,2	K562	blood:
2	chr3:46484352..46487691-chr3:46518831..46521127,3	K562	blood:
3	chr3:46485067..46487266-chr3:46492253..46493866,2	K562	blood:
4	chr3:46484746..46488003-chr3:46490448..46495431,4	K562	blood:
5	chr3:46479732..46482447-chr3:46484213..46487607,4	K562	blood:
6	chr3:46484040..46488296-chr3:46490659..46494329,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000012223	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs17078863	0.90[ASW][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17078878	1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs17135	0.96[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs1879328	0.82[LWK][hapmap]
rs2073493	1.00[CEU][hapmap]
rs2230894	0.81[AFR][1000 genomes]
rs2230895	0.87[AFR][1000 genomes]
rs2239692	0.83[AFR][1000 genomes]
rs2239693	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2269444	0.86[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs3796377	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4683227	0.87[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs4683229	0.86[ASN][1000 genomes]
rs4683230	0.86[ASN][1000 genomes]
rs4683231	0.86[ASN][1000 genomes]
rs4683232	0.86[ASN][1000 genomes]
rs4683235	0.80[ASW][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];0.82[GIH][hapmap];0.82[JPT][hapmap];1.00[LWK][hapmap];0.96[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs56226331	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs59278682	0.96[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs59952204	0.96[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6774189	0.82[LWK][hapmap]
rs6776245	0.91[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs6776379	0.82[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6776621	1.00[CHB][hapmap];0.82[JPT][hapmap];0.84[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs6781377	0.87[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs72900268	0.94[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs743658	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7629657	0.82[ASW][hapmap];1.00[CHB][hapmap];0.82[CHD][hapmap];0.82[GIH][hapmap];0.81[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs7629770	0.96[AFR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv1014624	chr3:46463424-46549188	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
4	nsv1013306	chr3:46469014-46698538	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:46455800-46496800	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr3:46459400-46491600	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr3:46465200-46488800	Weak transcription	Left Ventricle	heart
4	chr3:46465200-46488800	Weak transcription	Right Ventricle	heart
5	chr3:46480200-46504000	Weak transcription	Lung	lung
6	chr3:46481000-46488800	Strong transcription	Spleen	Spleen
7	chr3:46483000-46488600	Weak transcription	Adipose Nuclei	Adipose
8	chr3:46484800-46495000	Weak transcription	Fetal Intestine Small	intestine
9	chr3:46486400-46490400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr3:46486800-46487800	Strong transcription	Pancreas	Pancrea
11	chr3:46486800-46490200	Weak transcription	Gastric	stomach
12	chr3:46486800-46490600	Enhancers	Primary hematopoietic stem cells short term culture	blood

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