Variant report

Variant	rs765224
Chromosome Location	chr1:184015663-184015664
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:184012895..184017292-chr1:184018283..184022966,11	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198860	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs1034477	0.88[ASN][1000 genomes]
rs10797941	0.88[ASN][1000 genomes]
rs11576332	1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11582961	1.00[CEU][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11585756	0.88[ASN][1000 genomes]
rs12086203	0.83[ASN][1000 genomes]
rs12402790	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12403064	0.94[ASN][1000 genomes]
rs12408961	0.94[ASN][1000 genomes]
rs12411231	0.94[ASN][1000 genomes]
rs12725276	0.88[ASN][1000 genomes]
rs12729638	1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs12734950	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12751711	1.00[ASW][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.94[MEX][hapmap];0.86[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12759837	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1409812	0.93[ASW][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16822379	0.93[ASW][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.91[LWK][hapmap];0.94[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17572231	0.88[CEU][hapmap];0.92[EUR][1000 genomes]
rs1926873	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1991170	0.88[ASN][1000 genomes]
rs34010717	0.88[ASN][1000 genomes]
rs34876045	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35178058	0.88[ASN][1000 genomes]
rs35514700	0.88[ASN][1000 genomes]
rs35947721	0.88[ASN][1000 genomes]
rs4650654	0.88[ASN][1000 genomes]
rs56239295	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58322431	0.94[ASN][1000 genomes]
rs61477737	0.88[ASN][1000 genomes]
rs68130131	0.88[ASN][1000 genomes]
rs73053551	0.94[ASN][1000 genomes]
rs765225	1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530079	chr1:183797938-184639971	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv533206	chr1:183861204-184091272	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv1006655	chr1:183922288-184186677	Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv872583	chr1:183955574-184015663	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs765224	C1orf19	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:184008000-184019800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr1:184009200-184019600	Weak transcription	K562	blood
3	chr1:184011800-184020200	Weak transcription	Aorta	Aorta
4	chr1:184015000-184019000	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr1:184015000-184019600	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr1:184015000-184019800	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr1:184015200-184017000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:184015200-184019400	Enhancers	iPS-20b Cell Line	embryonic stem cell
9	chr1:184015400-184017600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:184015400-184019000	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr1:184015400-184019800	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr1:184015600-184016000	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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