Variant report

Variant	rs4902510
Chromosome Location	chr14:68170956-68170957
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:68170919-68172143	A549	lung:	n/a	n/a
2	SPI1	chr14:68170913-68171738	GM12878	blood:	n/a	chr14:68170963-68170976
3	CEBPB	chr14:68170742-68171034	HepG2	liver:	n/a	chr14:68170875-68170886
4	SMC3	chr14:68170945-68171599	Hela-S3	cervix:	n/a	n/a
5	RAD21	chr14:68170907-68171653	HCT-116	colon:	n/a	chr14:68170973-68170987
6	RAD21	chr14:68170819-68172079	SK-N-SH	brain:	n/a	chr14:68170973-68170987

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:67993411..67993949-chr14:68170946..68171642,2	MCF-7	breast:
2	chr14:68139698..68142484-chr14:68169874..68172946,4	MCF-7	breast:
3	chr14:68050450..68051460-chr14:68170491..68171891,10	K562	blood:
4	chr14:68073926..68076120-chr14:68169505..68171234,2	MCF-7	breast:
5	chr14:68085038..68085996-chr14:68170872..68171824,5	K562	blood:
6	chr14:68160479..68163286-chr14:68167983..68171190,4	MCF-7	breast:
7	chr14:68085030..68085991-chr14:68170815..68171645,4	MCF-7	breast:
8	chr14:68065457..68068095-chr14:68169119..68171833,2	MCF-7	breast:
9	chr14:67090731..67091375-chr14:68170944..68171444,2	MCF-7	breast:
10	chr14:68133599..68134168-chr14:68170909..68171445,2	MCF-7	breast:
11	chr14:68161792..68164356-chr14:68169236..68171815,2	MCF-7	breast:
12	chr14:68049889..68051990-chr14:68169863..68172640,4	MCF-7	breast:
13	chr14:68083632..68084176-chr14:68170942..68171834,2	K562	blood:

No data

Variant related genes	Relation type
RN7SL369P	TF binding region
ENSG00000054690	Chromatin interaction
ENSG00000100568	Chromatin interaction
ENSG00000201529	Chromatin interaction
ENSG00000072042	Chromatin interaction
ENSG00000100564	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10131022	1.00[EUR][1000 genomes]
rs10133699	1.00[EUR][1000 genomes]
rs10134763	1.00[EUR][1000 genomes]
rs10135963	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10136738	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10139064	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10139482	1.00[EUR][1000 genomes]
rs10142186	1.00[EUR][1000 genomes]
rs10145923	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10145933	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10146242	0.94[LWK][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10147052	1.00[EUR][1000 genomes]
rs10147145	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10150532	1.00[EUR][1000 genomes]
rs17104527	1.00[EUR][1000 genomes]
rs17104547	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104587	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17104591	1.00[EUR][1000 genomes]
rs17104697	1.00[EUR][1000 genomes]
rs2234506	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2234512	0.92[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2295109	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs2295110	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28451245	1.00[EUR][1000 genomes]
rs28556682	1.00[EUR][1000 genomes]
rs28780734	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28784083	1.00[EUR][1000 genomes]
rs28817410	1.00[EUR][1000 genomes]
rs28844401	1.00[EUR][1000 genomes]
rs34057001	1.00[EUR][1000 genomes]
rs35010674	1.00[EUR][1000 genomes]
rs4272963	1.00[EUR][1000 genomes]
rs4899218	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4899220	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs4902492	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4902516	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4902522	1.00[EUR][1000 genomes]
rs57023353	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs57348219	1.00[EUR][1000 genomes]
rs58112975	1.00[EUR][1000 genomes]
rs58952057	1.00[EUR][1000 genomes]
rs59945885	1.00[EUR][1000 genomes]
rs7143223	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7143483	1.00[EUR][1000 genomes]
rs7144698	1.00[EUR][1000 genomes]
rs7145385	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7149669	1.00[EUR][1000 genomes]
rs7156195	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7157699	1.00[EUR][1000 genomes]
rs7359109	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7765	0.94[LWK][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8007916	1.00[EUR][1000 genomes]
rs8009762	1.00[EUR][1000 genomes]
rs8010136	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8015427	1.00[TSI][hapmap]
rs8015609	1.00[EUR][1000 genomes]
rs8018161	1.00[EUR][1000 genomes]
rs8018528	1.00[EUR][1000 genomes]
rs8023116	1.00[EUR][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	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4902510	VTI1B	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68162600-68171400	Weak transcription	Aorta	Aorta
2	chr14:68162600-68171600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:68162800-68171000	Weak transcription	A549	lung
4	chr14:68162800-68171200	Weak transcription	K562	blood
5	chr14:68166200-68171200	Weak transcription	HepG2	liver
6	chr14:68168800-68171200	Weak transcription	Hela-S3	cervix
7	chr14:68168800-68171400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr14:68170400-68171400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
9	chr14:68170400-68172000	Enhancers	Liver	Liver
10	chr14:68170800-68171200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

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