Variant report

Variant	rs6822629
Chromosome Location	chr4:96011911-96011912
allele	C/G
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	GATA3	chr4:96011897-96012395	MCF-7	breast:	n/a	n/a
2	TCF12	chr4:96011467-96012008	A549	lung:	n/a	n/a
3	FOXA2	chr4:96011586-96012029	A549	lung:	n/a	n/a
4	FOXM1	chr4:96011769-96012558	MCF-7	breast:	n/a	n/a
5	GATA3	chr4:96011540-96012728	MCF-7	breast:	n/a	n/a
6	JUND	chr4:96011577-96012009	T-47D	breast:	n/a	n/a
7	GATA3	chr4:96011615-96012396	T-47D	breast:	n/a	n/a
8	EP300	chr4:96011660-96012385	T-47D	breast:	n/a	chr4:96012104-96012113
9	GATA3	chr4:96011646-96011946	T-47D	breast:	n/a	n/a
10	FOXA1	chr4:96011622-96012020	T-47D	breast:	n/a	n/a

Variant related genes	Relation type
BMPR1B	TF binding region

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10020105	0.87[AMR][1000 genomes]
rs1035810	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1036352	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1158368	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1158792	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1158793	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12506593	0.91[EUR][1000 genomes]
rs13134993	0.80[EUR][1000 genomes]
rs1319809	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17022989	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1816461	0.80[EUR][1000 genomes]
rs1816463	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1897810	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28392869	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28412242	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28419579	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4512000	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6532530	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6816834	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs723367	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7661539	0.82[EUR][1000 genomes]
rs7671545	0.80[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	chr4:96006800-96015400	Weak transcription	HUVEC	blood vessel
2	chr4:96007000-96014000	Weak transcription	Fetal Muscle Leg	muscle
3	chr4:96008800-96012200	Enhancers	Dnd41	blood
4	chr4:96009200-96017000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:96009400-96012600	Weak transcription	Primary T cells from cord blood	blood
6	chr4:96009600-96012200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr4:96009600-96012400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr4:96009600-96012400	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr4:96009600-96012400	Weak transcription	Fetal Thymus	thymus
10	chr4:96009600-96012400	Weak transcription	Thymus	Thymus
11	chr4:96009600-96015400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr4:96009600-96023600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr4:96009800-96012400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr4:96009800-96012400	Enhancers	A549	lung
15	chr4:96010600-96012200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr4:96011800-96012200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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