Variant report

Variant	rs10020105
Chromosome Location	chr4:96012427-96012428
allele	G/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	NR2F2	chr4:96012077-96012521	MCF-7	breast:	n/a	n/a
2	TCF12	chr4:96012230-96012950	A549	lung:	n/a	n/a
3	SP1	chr4:96012359-96012818	A549	lung:	n/a	n/a
4	CEBPB	chr4:96012133-96012575	MCF-7	breast:	n/a	n/a
5	POLR2A	chr4:96012358-96012816	HL-60	blood:	n/a	n/a
6	JUND	chr4:96012044-96012478	T-47D	breast:	n/a	n/a
7	GATA3	chr4:96012080-96012527	MCF-7	breast:	n/a	n/a
8	FOXM1	chr4:96011769-96012558	MCF-7	breast:	n/a	n/a
9	GATA3	chr4:96011540-96012728	MCF-7	breast:	n/a	n/a
10	CEBPB	chr4:96012122-96012959	A549	lung:	n/a	chr4:96012907-96012920
11	CEBPB	chr4:96012353-96012774	IMR90	lung:	n/a	n/a
12	POLR2A	chr4:96012333-96012508	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr4:96012379-96012685	MCF10A-Er-Src	breast:	n/a	chr4:96012466-96012477
14	CEBPB	chr4:96012178-96013026	A549	lung:	n/a	chr4:96012907-96012920
15	SP1	chr4:96012326-96012842	A549	lung:	n/a	n/a
16	CEBPB	chr4:96012403-96012830	A549	lung:	n/a	n/a

Variant related genes	Relation type
BMPR1B	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1035810	0.85[AMR][1000 genomes]
rs1158368	0.88[AMR][1000 genomes]
rs1158792	0.83[AMR][1000 genomes]
rs1158793	0.83[AMR][1000 genomes]
rs1319809	0.87[AMR][1000 genomes]
rs17022989	0.87[AMR][1000 genomes]
rs1816463	0.85[AMR][1000 genomes]
rs28392869	0.82[AMR][1000 genomes]
rs28412242	0.81[AMR][1000 genomes]
rs28419579	0.81[AMR][1000 genomes]
rs6532530	0.85[AMR][1000 genomes]
rs6816834	0.87[AMR][1000 genomes]
rs6822629	0.87[AMR][1000 genomes]
rs723367	0.81[AMR][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:20 , 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	chr4:96009200-96017000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr4:96009400-96012600	Weak transcription	Primary T cells from cord blood	blood
5	chr4:96009600-96015400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:96009600-96023600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr4:96012200-96013000	Enhancers	HSMM	muscle
8	chr4:96012200-96013800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:96012200-96013800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr4:96012200-96014000	Flanking Active TSS	Dnd41	blood
11	chr4:96012200-96015000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr4:96012400-96012800	Flanking Active TSS	Fetal Thymus	thymus
13	chr4:96012400-96012800	Enhancers	Ovary	ovary
14	chr4:96012400-96012800	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr4:96012400-96013000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr4:96012400-96013000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr4:96012400-96013000	Enhancers	Muscle Satellite Cultured Cells	--
18	chr4:96012400-96015800	Active TSS	Thymus	Thymus
19	chr4:96012400-96016400	Active TSS	A549	lung
20	chr4:96012400-96016600	Enhancers	Cortex derived primary cultured neurospheres	brain

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