Variant report

Variant	rs12435352
Chromosome Location	chr14:68171890-68171891
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr14:68171863-68172410	MCF10A-Er-Src	breast:	n/a	n/a
2	FOS	chr14:68171884-68172367	MCF10A-Er-Src	breast:	n/a	n/a
3	CTCF	chr14:68170919-68172143	A549	lung:	n/a	n/a
4	FOS	chr14:68171840-68172351	MCF10A-Er-Src	breast:	n/a	n/a
5	SMC3	chr14:68171074-68171970	SK-N-SH	brain:	n/a	n/a
6	RAD21	chr14:68170819-68172079	SK-N-SH	brain:	n/a	chr14:68170973-68170987

No.	Distal block	Cell Line	Cell type
1	chr14:68139698..68142484-chr14:68169874..68172946,4	MCF-7	breast:
2	chr14:68050450..68051460-chr14:68170491..68171891,10	K562	blood:
3	chr14:68049889..68051990-chr14:68169863..68172640,4	MCF-7	breast:

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

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10483802	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12100925	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12431676	0.91[ASW][hapmap];0.92[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];0.83[TSI][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12432546	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12434923	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12435531	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12435927	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs12436474	1.00[CEU][hapmap];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12437263	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12587111	0.82[ASN][1000 genomes]
rs12587408	0.87[ASN][1000 genomes]
rs12590038	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12590620	0.81[ASN][1000 genomes]
rs15493	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17249444	0.82[CHB][hapmap];0.88[CHD][hapmap];0.85[JPT][hapmap];0.82[ASN][1000 genomes]
rs17249563	1.00[CEU][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs17836863	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1804799	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2009590	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.83[TSI][hapmap];0.94[YRI][hapmap];0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3759768	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56246064	0.82[ASN][1000 genomes]
rs56981676	0.81[ASN][1000 genomes]
rs58668895	0.82[ASN][1000 genomes]
rs59421018	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs60851053	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs718213	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs8010798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8013234	1.00[CEU][hapmap];0.91[GIH][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs910315	1.00[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];0.99[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	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
5	nsv976349	chr14:68171328-68181608	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68170400-68172000	Enhancers	Liver	Liver
2	chr14:68171000-68172000	Enhancers	Stomach Mucosa	stomach
3	chr14:68171000-68172400	Enhancers	A549	lung
4	chr14:68171200-68172000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:68171200-68172000	Flanking Active TSS	Brain Substantia Nigra	brain
6	chr14:68171200-68172200	Enhancers	Brain Hippocampus Middle	brain
7	chr14:68171200-68172200	Enhancers	HMEC	breast
8	chr14:68171200-68172400	Enhancers	Brain Anterior Caudate	brain
9	chr14:68171200-68172400	Enhancers	Hela-S3	cervix
10	chr14:68171400-68172200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr14:68171400-68172200	Enhancers	NHEK	skin
12	chr14:68171600-68172200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:68171600-68172200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:68171600-68172200	Enhancers	Brain Cingulate Gyrus	brain
15	chr14:68171800-68172000	Enhancers	Brain Angular Gyrus	brain
16	chr14:68171800-68181600	Weak transcription	K562	blood

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