Variant report

Variant	rs72951422
Chromosome Location	chr4:148646582-148646583
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:148638674..148641616-chr4:148645087..148647358,2	MCF-7	breast:
2	chr4:148646288..148648012-chr4:148649109..148651938,2	K562	blood:
3	chr4:148644750..148646283-chr4:148646417..148648136,2	MCF-7	breast:
4	chr4:148644588..148650740-chr4:148651237..148656325,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071205	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10011891	1.00[AMR][1000 genomes]
rs10023419	1.00[AMR][1000 genomes]
rs10024194	0.83[AMR][1000 genomes]
rs10029636	1.00[AMR][1000 genomes]
rs10034181	1.00[AMR][1000 genomes]
rs11931510	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11932755	0.83[AMR][1000 genomes]
rs11932883	0.83[AMR][1000 genomes]
rs28416885	1.00[AMR][1000 genomes]
rs28579791	1.00[AMR][1000 genomes]
rs34001293	0.83[AMR][1000 genomes]
rs57632432	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58012022	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs58285779	0.83[AMR][1000 genomes]
rs58965352	1.00[AMR][1000 genomes]
rs59938265	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs61312957	0.83[AMR][1000 genomes]
rs61355480	0.83[AMR][1000 genomes]
rs61363583	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72945871	0.83[AMR][1000 genomes]
rs72945873	0.83[AMR][1000 genomes]
rs72945877	0.83[AMR][1000 genomes]
rs72945879	0.83[AMR][1000 genomes]
rs72945896	0.83[AMR][1000 genomes]
rs72947812	0.83[AMR][1000 genomes]
rs72947824	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72947833	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72947849	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72947870	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72947876	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72947892	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72949789	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72949795	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72949796	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs72949798	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951406	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951412	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72951423	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72953473	1.00[AMR][1000 genomes]
rs72953477	1.00[AMR][1000 genomes]
rs72953481	1.00[AMR][1000 genomes]
rs72953487	0.83[AMR][1000 genomes]
rs72953502	1.00[AMR][1000 genomes]
rs72955506	1.00[AMR][1000 genomes]
rs9996365	1.00[AMR][1000 genomes]
rs9997304	1.00[AMR][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:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:148635600-148646800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:148643800-148646600	Enhancers	Fetal Intestine Large	intestine
3	chr4:148644800-148652400	Weak transcription	Duodenum Mucosa	Duodenum
4	chr4:148645000-148648400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr4:148645000-148648400	Weak transcription	NHDF-Ad	bronchial
6	chr4:148645000-148652000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr4:148645000-148652200	Weak transcription	Fetal Kidney	kidney
8	chr4:148645000-148652400	Weak transcription	Liver	Liver
9	chr4:148645400-148646600	Enhancers	Stomach Mucosa	stomach
10	chr4:148646000-148647400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr4:148646000-148652200	Weak transcription	Adipose Nuclei	Adipose
12	chr4:148646200-148651600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr4:148646200-148652200	Weak transcription	GM12878-XiMat	blood
14	chr4:148646400-148647600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr4:148646400-148648400	Weak transcription	Gastric	stomach
16	chr4:148646400-148651400	Weak transcription	HepG2	liver
17	chr4:148646400-148652400	Weak transcription	A549	lung

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