Variant report

Variant	rs2104170
Chromosome Location	chr14:65357916-65357917
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65353028..65355615-chr14:65356230..65358479,2	K562	blood:
2	chr14:65346776..65351606-chr14:65355142..65358604,5	K562	blood:
3	chr14:65356440..65358700-chr14:65379769..65381546,2	MCF-7	breast:
4	chr14:65289311..65290700-chr14:65357720..65359432,13	MCF-7	breast:
5	chr14:65267486..65269217-chr14:65357718..65359262,14	MCF-7	breast:
6	chr14:65289223..65290628-chr14:65357779..65359171,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258289	Chromatin interaction
ENSG00000125954	Chromatin interaction
ENSG00000070182	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs1003370	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10151551	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs10162522	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs1122339	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11844283	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12147448	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1467569	0.84[MEX][hapmap]
rs1467573	0.84[MEX][hapmap]
rs17093568	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1951489	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957420	0.84[ASN][1000 genomes]
rs1957422	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1957430	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1957432	0.84[MEX][hapmap]
rs1957433	0.92[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap];0.83[LWK][hapmap];0.91[MEX][hapmap];0.83[MKK][hapmap];0.91[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1983769	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2016653	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs230721	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs230722	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2884307	0.82[ASN][1000 genomes]
rs2884308	0.84[MEX][hapmap]
rs35179634	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs368818	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs374461	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs375797	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs378391	1.00[CEU][hapmap]
rs3813424	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs389370	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs395112	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs397901	0.82[EUR][1000 genomes]
rs399508	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs406811	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs424222	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs426044	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs435006	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs4899151	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4902323	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]
rs4902324	1.00[CEU][hapmap];0.95[CHB][hapmap]
rs55983720	0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58989463	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61989891	0.82[EUR][1000 genomes]
rs6573584	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7143541	0.83[ASW][hapmap];0.83[MEX][hapmap]
rs7149121	0.82[EUR][1000 genomes]
rs7149446	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7158624	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72625650	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs762072	0.82[EUR][1000 genomes]
rs8008229	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8008745	0.84[MEX][hapmap]
rs8009996	0.84[MEX][hapmap]
rs8013371	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs8022462	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9323455	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes]
rs9323456	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693408	chr14:65292670-65358576	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv516238	chr14:65327288-65358576	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv3693169	chr14:65344400-65381068	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv1311	chr14:65352722-65379802	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv510638	chr14:65353025-65368298	Enhancers Bivalent Enhancer Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	esv993830	chr14:65357515-65363884	Enhancers Weak transcription Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2104170	CHURC1	cis	lymphoblastoid	seeQTL

Chromatin state (count:3 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65357400-65358600	Enhancers	K562	blood
2	chr14:65357800-65358400	Enhancers	Liver	Liver
3	chr14:65357800-65358600	Enhancers	Skeletal Muscle Female	skeletal muscle

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