Variant report

Variant	rs1434549
Chromosome Location	chr4:96010909-96010910
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	NR3C1	chr4:96010572-96010926	A549	lung:	n/a	chr4:96010789-96010803
2	NR3C1	chr4:96010649-96010939	A549	lung:	n/a	chr4:96010789-96010803
3	GATA3	chr4:96010682-96010944	T-47D	breast:	n/a	chr4:96010825-96010834
4	GATA3	chr4:96010569-96011018	SH-SY5Y	brain:	n/a	chr4:96010825-96010834
5	GATA2	chr4:96010695-96010968	SH-SY5Y	brain:	n/a	chr4:96010825-96010834
6	GATA3	chr4:96010517-96011077	MCF-7	breast:	n/a	chr4:96010825-96010834
7	NR3C1	chr4:96010682-96010922	A549	lung:	n/a	chr4:96010789-96010803
8	GATA3	chr4:96010401-96011031	MCF-7	breast:	n/a	chr4:96010404-96010412 chr4:96010825-96010834
9	GATA3	chr4:96010658-96010959	T-47D	breast:	n/a	chr4:96010825-96010834

Variant related genes	Relation type
BMPR1B	TF binding region

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1073308	0.91[ASN][1000 genomes]
rs11934798	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11937369	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12500473	1.00[YRI][hapmap]
rs12645001	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13434647	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17022918	0.83[CHB][hapmap]
rs17023017	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs17344835	0.92[CEU][hapmap];0.94[CHB][hapmap];0.95[YRI][hapmap];0.88[EUR][1000 genomes]
rs17412559	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17412982	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1863652	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1961224	0.96[CEU][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3796432	0.84[CEU][hapmap];0.82[EUR][1000 genomes]
rs3796434	0.86[JPT][hapmap]
rs6815044	1.00[YRI][hapmap]
rs6831697	0.91[CEU][hapmap];0.84[CHB][hapmap];1.00[YRI][hapmap];0.89[EUR][1000 genomes]
rs6832300	0.94[YRI][hapmap]
rs72672718	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7664797	0.96[CEU][hapmap];0.83[CHB][hapmap];0.94[YRI][hapmap];0.88[EUR][1000 genomes]
rs7679627	1.00[YRI][hapmap];0.80[AFR][1000 genomes]
rs7680852	0.92[CEU][hapmap];0.83[CHB][hapmap];1.00[YRI][hapmap];0.85[EUR][1000 genomes]
rs9997720	0.82[CEU][hapmap];0.81[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	nsv932216	chr4:95501261-96109807	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv1003860	chr4:95507683-96120619	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
3	nsv869528	chr4:95537649-96368018	Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv492312	chr4:95823124-96128327	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv830011	chr4:95947560-96103934	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv594907	chr4:95975470-96170439	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 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	chr4:96003800-96011600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:96006800-96015400	Weak transcription	HUVEC	blood vessel
3	chr4:96007000-96014000	Weak transcription	Fetal Muscle Leg	muscle
4	chr4:96008800-96012200	Enhancers	Dnd41	blood
5	chr4:96009200-96017000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:96009400-96012600	Weak transcription	Primary T cells from cord blood	blood
7	chr4:96009600-96012200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr4:96009600-96012400	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr4:96009600-96012400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr4:96009600-96012400	Weak transcription	Fetal Thymus	thymus
11	chr4:96009600-96012400	Weak transcription	Thymus	Thymus
12	chr4:96009600-96015400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr4:96009600-96023600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr4:96009800-96012400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr4:96009800-96012400	Enhancers	A549	lung
16	chr4:96010600-96012200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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