Variant report

Variant	rs73021048
Chromosome Location	chr2:172167892-172167893
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:172160256..172162303-chr2:172165777..172168746,2	MCF-7	breast:
2	chr2:172015942..172018543-chr2:172166492..172169065,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DCAF17-2	chr2:172167776-172169682	ENSG00000250738

Variant related genes	Relation type
ENSG00000198586	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs16859368	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16859371	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16859373	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16859377	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16859380	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16859386	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16859390	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16859404	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16859405	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16859410	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17287497	0.85[ASN][1000 genomes]
rs17287624	0.81[ASN][1000 genomes]
rs1882378	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3731984	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3795996	0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs55711751	0.95[ASN][1000 genomes]
rs55715902	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs55716501	0.92[EUR][1000 genomes]
rs55974181	0.88[EUR][1000 genomes]
rs56065525	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56239048	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56273218	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56302833	0.95[ASN][1000 genomes]
rs57165050	1.00[EUR][1000 genomes]
rs61021737	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61502503	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6759487	0.85[ASN][1000 genomes]
rs728651	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72882363	0.85[ASN][1000 genomes]
rs73976175	0.88[EUR][1000 genomes]
rs9646734	0.95[ASN][1000 genomes]

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	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172144200-172171200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:172151600-172168400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:172154600-172168600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr2:172163800-172181400	Weak transcription	Gastric	stomach
5	chr2:172165600-172179400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:172166200-172168000	Enhancers	HepG2	liver
7	chr2:172166600-172168600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:172167200-172169600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr2:172167200-172170400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
10	chr2:172167400-172168200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:172167400-172169600	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
12	chr2:172167400-172169800	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:172167400-172172400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:172167600-172172400	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:172167600-172174000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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