Variant report

Variant	rs4448249
Chromosome Location	chr8:111930833-111930834
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:111929502..111932269-chr8:111933954..111936192,2	MCF-7	breast:

Extended variants
information (count: 110 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10094433	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10106484	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10108172	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10108260	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10110044	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10112633	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10113059	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10808440	1.00[EUR][1000 genomes]
rs10955554	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11779737	0.93[EUR][1000 genomes]
rs11783887	0.93[EUR][1000 genomes]
rs11786555	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11988126	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11988928	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11990659	0.84[EUR][1000 genomes]
rs11990689	0.84[EUR][1000 genomes]
rs11991405	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11994892	0.91[EUR][1000 genomes]
rs11994924	0.91[EUR][1000 genomes]
rs13268040	0.95[EUR][1000 genomes]
rs13270913	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13271392	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13280135	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13280204	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs13281673	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1387409	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1489354	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1489355	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1489366	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1489371	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1546013	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16881105	0.91[EUR][1000 genomes]
rs16881260	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16881262	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16881278	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16881313	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2351322	0.95[EUR][1000 genomes]
rs4143847	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4335112	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4351440	1.00[EUR][1000 genomes]
rs4351444	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4398950	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4607577	0.91[EUR][1000 genomes]
rs4637866	1.00[EUR][1000 genomes]
rs56249027	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs57214640	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs58289479	0.91[EUR][1000 genomes]
rs6415454	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6415455	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6469323	0.91[EUR][1000 genomes]
rs6469326	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6469329	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6469333	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6469334	1.00[EUR][1000 genomes]
rs6469335	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6469336	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6469337	0.95[EUR][1000 genomes]
rs6469338	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6469339	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6992712	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6996166	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6996467	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7004409	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7004898	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7009162	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73325303	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73325320	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73325322	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73325323	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73325364	0.93[EUR][1000 genomes]
rs73325366	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73325385	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73700740	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73700745	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73700751	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73700784	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73702377	0.87[EUR][1000 genomes]
rs7386452	0.87[EUR][1000 genomes]
rs7386585	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7387318	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7387866	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7388561	0.84[EUR][1000 genomes]
rs7388644	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7459880	0.95[EUR][1000 genomes]
rs7460049	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7461197	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7462681	1.00[EUR][1000 genomes]
rs7462742	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7463567	0.93[EUR][1000 genomes]
rs7463637	1.00[EUR][1000 genomes]
rs7463960	0.98[EUR][1000 genomes]
rs7465108	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7812873	1.00[CEU][hapmap];1.00[GIH][hapmap]
rs7819487	0.93[EUR][1000 genomes]
rs7819888	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7821277	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7826039	0.93[EUR][1000 genomes]
rs7829873	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7845184	1.00[CEU][hapmap];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9297439	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs931411	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs931412	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9649932	0.95[EUR][1000 genomes]
rs974684	0.91[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	nsv891294	chr8:111754075-112163801	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1032766	chr8:111779352-111995438	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv1030494	chr8:111779352-112421812	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv2754849	chr8:111817591-112088992	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	esv3418448	chr8:111834718-112112905	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv891295	chr8:111852200-112163801	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:11 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:111929600-111942400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr8:111930200-111931000	Enhancers	Primary hematopoietic stem cells	blood
3	chr8:111930400-111931000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:111930400-111931000	Enhancers	Primary hematopoietic stem cells short term culture	blood
5	chr8:111930400-111931200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:111930400-111931200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr8:111930400-111931200	Enhancers	HepG2	liver
8	chr8:111930600-111931000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr8:111930600-111931000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr8:111930600-111931000	Enhancers	HUVEC	blood vessel
11	chr8:111930800-111931400	Active TSS	GM12878-XiMat	blood

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