Variant report

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:44151259..44154357-chr12:44196994..44203443,7	K562	blood:

Variant related genes	Relation type
ENSG00000129317	Chromatin interaction
ENSG00000198001	Chromatin interaction

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs11182288	0.85[CEU][hapmap]
rs12301507	0.82[MEX][hapmap]
rs12311962	1.00[JPT][hapmap]
rs12314126	1.00[JPT][hapmap]
rs1531402	0.87[CEU][hapmap];1.00[GIH][hapmap];0.82[MEX][hapmap];0.89[TSI][hapmap]
rs1675765	1.00[JPT][hapmap]
rs1675771	1.00[JPT][hapmap]
rs1675778	1.00[JPT][hapmap]
rs1675782	1.00[JPT][hapmap]
rs1675788	1.00[JPT][hapmap]
rs1675791	1.00[JPT][hapmap]
rs1731439	1.00[JPT][hapmap]
rs1731440	1.00[JPT][hapmap]
rs1731442	1.00[JPT][hapmap]
rs4251449	1.00[CHD][hapmap]
rs4251514	1.00[CHD][hapmap]
rs4251547	1.00[CHD][hapmap]
rs4251551	1.00[CHD][hapmap]
rs55759317	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56322120	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61567111	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61930676	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61933174	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs61933176	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933177	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933179	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61933180	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7136217	0.82[MEX][hapmap]
rs7303909	0.82[MEX][hapmap]
rs7960478	1.00[JPT][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933142	chr12:44130156-44278300	Active TSS Flanking Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:44201000-44205800	Weak transcription	HMEC	breast
2	chr12:44201000-44207400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr12:44201200-44206200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr12:44201400-44204000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr12:44201400-44209400	Weak transcription	Fetal Intestine Small	intestine
6	chr12:44201600-44203800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:44201600-44204400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr12:44201600-44204800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr12:44201600-44205200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:44201800-44205400	Weak transcription	NHEK	skin
11	chr12:44202000-44217800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:44202200-44205000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr12:44202200-44205400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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