Variant report

No.	Distal block	Cell Line	Cell type
1	chr4:148634430..148636083-chr4:148650426..148652748,2	MCF-7	breast:
2	chr4:148602322..148606656-chr4:148649854..148654389,6	MCF-7	breast:
3	chr4:148641449..148643779-chr4:148649029..148651151,2	MCF-7	breast:
4	chr4:148646288..148648012-chr4:148649109..148651938,2	K562	blood:
5	chr4:148649646..148651392-chr4:148654953..148657402,2	K562	blood:

Variant related genes	Relation type
ENSG00000164169	Chromatin interaction

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1005871	0.81[JPT][hapmap]
rs10776520	0.82[CEU][hapmap]
rs11099666	0.80[ASN][1000 genomes]
rs11099667	0.95[ASN][1000 genomes]
rs11725260	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11726957	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12502667	0.82[CEU][hapmap];0.88[CHB][hapmap];0.93[JPT][hapmap];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12646582	0.88[ASN][1000 genomes]
rs13109759	0.92[ASN][1000 genomes]
rs13128620	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13144139	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1969102	0.87[EUR][1000 genomes]
rs2036498	0.81[JPT][hapmap]
rs2654949	0.81[JPT][hapmap]
rs36052332	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4835093	0.82[CEU][hapmap];0.94[EUR][1000 genomes]
rs4835446	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4835448	0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56224422	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6535556	0.82[CEU][hapmap];0.88[EUR][1000 genomes]
rs6828600	0.82[CEU][hapmap]
rs6836509	0.82[CEU][hapmap];0.91[EUR][1000 genomes]
rs6845224	0.81[JPT][hapmap]
rs72951430	0.85[EUR][1000 genomes]
rs72953456	0.83[EUR][1000 genomes]
rs7661297	0.82[CEU][hapmap];0.81[EUR][1000 genomes]
rs7666807	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs905607	0.81[ASN][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	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148644800-148652400	Weak transcription	Duodenum Mucosa	Duodenum
2	chr4:148645000-148652000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr4:148645000-148652200	Weak transcription	Fetal Kidney	kidney
4	chr4:148645000-148652400	Weak transcription	Liver	Liver
5	chr4:148646000-148652200	Weak transcription	Adipose Nuclei	Adipose
6	chr4:148646200-148651600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr4:148646200-148652200	Weak transcription	GM12878-XiMat	blood
8	chr4:148646400-148651400	Weak transcription	HepG2	liver
9	chr4:148646400-148652400	Weak transcription	A549	lung
10	chr4:148648600-148652200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:148649000-148652200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr4:148649000-148652400	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr4:148649200-148652000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr4:148649200-148652200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:148649200-148652400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:148649200-148652400	Weak transcription	NHDF-Ad	bronchial
17	chr4:148649400-148652200	Weak transcription	NHEK	skin
18	chr4:148649400-148652400	Weak transcription	HMEC	breast
19	chr4:148649600-148652200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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