Variant report

Variant	rs6666358
Chromosome Location	chr1:179339334-179339335
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:179338705..179340694-chr1:179346963..179349066,2	K562	blood:
2	chr1:179089949..179090868-chr1:179338641..179339706,4	K562	blood:
3	chr1:179332952..179336574-chr1:179337996..179342859,7	MCF-7	breast:
4	chr1:179048422..179049068-chr1:179338591..179339827,3	K562	blood:
5	chr1:179260885..179265137-chr1:179333383..179339387,7	MCF-7	breast:
6	chr1:178511480..178512262-chr1:179338579..179339345,2	K562	blood:
7	chr1:179220558..179221464-chr1:179338599..179339569,5	MCF-7	breast:
8	chr1:179220394..179221467-chr1:179338651..179339953,9	MCF-7	breast:
9	chr1:179333390..179336673-chr1:179338029..179341473,3	MCF-7	breast:
10	chr1:179338659..179339560-chr1:179568499..179569458,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000213057	Chromatin interaction
ENSG00000162779	Chromatin interaction
ENSG00000057252	Chromatin interaction
ENSG00000184909	Chromatin interaction
ENSG00000263633	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10753191	0.82[JPT][hapmap]
rs10798665	0.86[JPT][hapmap]
rs10913734	0.82[JPT][hapmap]
rs10913776	0.80[YRI][hapmap]
rs12136100	0.80[YRI][hapmap]
rs12743373	0.91[GIH][hapmap]
rs12749731	0.82[GIH][hapmap]
rs17369088	0.90[CHB][hapmap];0.93[CHD][hapmap];0.84[ASN][1000 genomes]
rs2152320	0.90[CHB][hapmap];0.81[ASN][1000 genomes]
rs2184575	0.84[ASN][1000 genomes]
rs3753526	0.82[JPT][hapmap]
rs45471092	0.84[ASN][1000 genomes]
rs4651024	0.90[CHB][hapmap];0.93[CHD][hapmap]
rs4651025	0.82[GIH][hapmap]
rs4652366	0.89[CHB][hapmap];0.88[CHD][hapmap];0.84[ASN][1000 genomes]
rs4652367	0.90[GIH][hapmap]
rs56149964	0.84[ASN][1000 genomes]
rs56303406	0.84[ASN][1000 genomes]
rs6425534	0.81[ASN][1000 genomes]
rs6664339	0.84[GIH][hapmap]
rs6678667	0.82[GIH][hapmap]
rs67545145	0.84[ASN][1000 genomes]
rs68098532	0.84[ASN][1000 genomes]
rs7514278	0.80[YRI][hapmap]
rs7534976	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1005278	chr1:179197645-179371395	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2762031	chr1:179323738-179375197	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
3	nsv518403	chr1:179323919-179371973	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
4	nsv548279	chr1:179323919-179390148	Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	esv33901	chr1:179328708-179344905	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6666358	ABL2	cis	cerebellum	SCAN
rs6666358	TNR	cis	parietal	SCAN
rs6666358	FAM20B	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:179339200-179339400	Enhancers	Osteobl	bone

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