Variant report

Variant	rs12507853
Chromosome Location	chr4:48252605-48252606
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48251827..48254565-chr4:48270153..48272053,2	K562	blood:
2	chr4:48248891..48252665-chr4:48270333..48273467,3	MCF-7	breast:
3	chr4:48231874..48234490-chr4:48252410..48255133,2	K562	blood:
4	chr4:48250701..48254731-chr4:48255352..48259390,5	K562	blood:
5	chr4:48251770..48253352-chr4:48260141..48262130,2	K562	blood:

Variant related genes	Relation type
ENSG00000135605	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10454242	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs12500187	0.83[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes]
rs12504870	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13103259	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13104355	0.97[EUR][1000 genomes]
rs13114469	0.86[CHB][hapmap];0.81[CHD][hapmap];1.00[JPT][hapmap]
rs13120599	0.97[EUR][1000 genomes]
rs13121247	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13125176	0.94[CEU][hapmap];0.85[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1355218	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17471308	0.97[EUR][1000 genomes]
rs17471321	0.97[EUR][1000 genomes]
rs17574806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17574819	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][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]
rs17574847	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs2352597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457412	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2664021	0.83[CEU][hapmap];0.97[EUR][1000 genomes]
rs2664030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704391	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704394	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704403	0.97[EUR][1000 genomes]
rs2704404	0.94[CEU][hapmap];0.96[GIH][hapmap];0.92[TSI][hapmap];0.97[EUR][1000 genomes]
rs2704412	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34292660	0.97[EUR][1000 genomes]
rs34712902	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35602964	0.84[AFR][1000 genomes]
rs35912788	0.97[EUR][1000 genomes]
rs35920857	0.97[EUR][1000 genomes]
rs36103122	0.97[EUR][1000 genomes]
rs4694891	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55657817	0.97[EUR][1000 genomes]
rs60092950	0.95[EUR][1000 genomes]
rs6826144	0.94[CEU][hapmap];0.96[GIH][hapmap];0.92[TSI][hapmap];0.97[EUR][1000 genomes]
rs6850058	0.94[CEU][hapmap];0.97[EUR][1000 genomes]
rs73246007	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73817608	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7658983	0.97[EUR][1000 genomes]
rs7659013	0.97[EUR][1000 genomes]
rs7663382	0.97[EUR][1000 genomes]
rs7669018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7678247	0.96[EUR][1000 genomes]
rs7678843	0.94[CEU][hapmap];0.96[GIH][hapmap];0.92[TSI][hapmap];0.97[EUR][1000 genomes]
rs7698045	0.94[CEU][hapmap];0.89[GIH][hapmap];0.96[TSI][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9996158	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2763359	chr4:48189710-48290233	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
4	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv461357	chr4:48248258-48274152	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
7	nsv594119	chr4:48248258-48274152	Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
8	nsv470032	chr4:48251915-48312389	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv461358	chr4:48251916-48274152	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
10	nsv594120	chr4:48251916-48274152	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48248800-48255200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr4:48248800-48270600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr4:48249600-48261600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr4:48249800-48254200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:48249800-48255800	Weak transcription	NHDF-Ad	bronchial
6	chr4:48250200-48254600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr4:48250400-48254400	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr4:48250600-48255800	Weak transcription	Left Ventricle	heart
9	chr4:48250600-48259400	Weak transcription	Small Intestine	intestine
10	chr4:48251000-48256000	Weak transcription	Liver	Liver
11	chr4:48251400-48270000	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr4:48251800-48270200	Weak transcription	Fetal Intestine Large	intestine
13	chr4:48252000-48253400	Weak transcription	K562	blood
14	chr4:48252200-48253600	ZNF genes & repeats	GM12878-XiMat	blood
15	chr4:48252400-48252800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
16	chr4:48252600-48252800	ZNF genes & repeats	Aorta	Aorta
17	chr4:48252600-48253000	ZNF genes & repeats	Primary B cells from cord blood	blood
18	chr4:48252600-48253000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:48252600-48253200	Strong transcription	Primary hematopoietic stem cells	blood
20	chr4:48252600-48255200	Weak transcription	Fetal Lung	lung
21	chr4:48252600-48258200	Enhancers	Fetal Heart	heart

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