Variant report

Variant	rs1998194
Chromosome Location	chr14:39690854-39690855
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:39690148..39692016-chr14:39692891..39694587,2	MCF-7	breast:
2	chr14:39682657..39684941-chr14:39688892..39691527,2	MCF-7	breast:
3	chr14:39642456..39648509-chr14:39688590..39693921,7	MCF-7	breast:
4	chr14:39655421..39657718-chr14:39690495..39693068,2	K562	blood:
5	chr14:39651862..39654641-chr14:39690512..39693459,3	K562	blood:

Variant related genes	Relation type
ENSG00000270503	Chromatin interaction
ENSG00000259083	Chromatin interaction
ENSG00000100941	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10131617	0.95[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs10133417	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs10134143	0.86[ASN][1000 genomes]
rs10134365	0.95[CHB][hapmap];0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs10137352	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs10137905	0.86[CHB][hapmap];0.86[JPT][hapmap]
rs10138869	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs10151659	0.91[CHB][hapmap];0.87[JPT][hapmap]
rs10162550	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs10872920	0.91[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap]
rs11157053	0.95[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap]
rs11157058	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs11620695	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs11621330	0.91[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.83[ASN][1000 genomes]
rs11621822	0.86[ASN][1000 genomes]
rs11626150	0.86[ASN][1000 genomes]
rs11626679	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs11627580	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs11628075	0.84[ASN][1000 genomes]
rs11845046	0.84[ASN][1000 genomes]
rs12434140	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs12587713	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs12589831	0.86[ASN][1000 genomes]
rs12882709	0.86[ASN][1000 genomes]
rs12894855	0.81[JPT][hapmap]
rs12894960	0.81[ASN][1000 genomes]
rs1594842	0.90[CHB][hapmap];0.91[JPT][hapmap]
rs17109021	0.95[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs17109028	0.95[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs17109056	0.84[ASN][1000 genomes]
rs17109073	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs1897792	0.86[CHB][hapmap];0.87[CHD][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs1950952	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs2082635	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs2274396	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs2274399	0.91[CHB][hapmap];0.86[JPT][hapmap]
rs28680827	0.85[ASN][1000 genomes]
rs35613410	0.86[ASN][1000 genomes]
rs4902528	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs4902569	0.82[JPT][hapmap]
rs4902570	0.82[JPT][hapmap]
rs6571919	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs7140164	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs7143646	0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs7148150	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs7153482	0.91[JPT][hapmap]
rs8004716	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs8018717	0.95[CHB][hapmap];0.88[CHD][hapmap];0.95[JPT][hapmap]
rs956109	0.95[CHB][hapmap];0.95[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1246	chr14:39656597-39701520	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription	TF binding region Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv1053133	chr14:39657535-39770729	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1998194	BRMS1L	cis	cerebellum	SCAN
rs1998194	EAPP	cis	cerebellum	SCAN

Chromatin state (count:2 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39674000-39705400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:39688800-39693000	Weak transcription	HepG2	liver

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