Variant report

Variant	rs58439929
Chromosome Location	chr7:47783466-47783467
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:47773818..47776003-chr7:47781051..47783557,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1377428	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1377429	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17151143	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17172900	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4570057	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57455600	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs59214665	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59242497	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61011614	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61228121	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73325875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73325881	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73325884	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73325886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73325888	0.94[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73325893	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73325897	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73325898	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73325899	0.98[AFR][1000 genomes]
rs73325901	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327603	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327607	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327618	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327620	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327623	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327624	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327635	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327637	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327641	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73327645	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv888003	chr7:47694270-47907214	Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
3	nsv1018608	chr7:47708525-47831535	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1022906	chr7:47709936-47831535	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv1015163	chr7:47734913-47832389	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv538831	chr7:47734913-47832389	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv830990	chr7:47767540-47837584	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:47774400-47802600	Weak transcription	Pancreas	Pancrea
2	chr7:47774600-47783800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr7:47779200-47783600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:47779200-47783800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:47779400-47783600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr7:47779400-47783800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr7:47779800-47783600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:47780000-47783800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:47781800-47795400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:47782000-47783600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr7:47782000-47783600	Weak transcription	Fetal Stomach	stomach
12	chr7:47783000-47783600	Weak transcription	Spleen	Spleen
13	chr7:47783000-47784000	Enhancers	Fetal Kidney	kidney
14	chr7:47783400-47783600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:47783400-47783600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr7:47783400-47783600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
17	chr7:47783400-47783600	Enhancers	Osteobl	bone
18	chr7:47783400-47783800	Enhancers	Primary B cells from peripheral blood	blood
19	chr7:47783400-47783800	Enhancers	Fetal Intestine Small	intestine
20	chr7:47783400-47783800	Enhancers	NHDF-Ad	bronchial
21	chr7:47783400-47784000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:47783400-47784000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:47783400-47784000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:47783400-47784000	Enhancers	Fetal Lung	lung
25	chr7:47783400-47784000	Enhancers	Placenta Amnion	Placenta Amnion
26	chr7:47783400-47784000	Enhancers	Stomach Mucosa	stomach
27	chr7:47783400-47784000	Enhancers	HepG2	liver
28	chr7:47783400-47784000	Flanking Active TSS	HUVEC	blood vessel
29	chr7:47783400-47784000	Enhancers	NHLF	lung
30	chr7:47783400-47784200	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr7:47783400-47784200	Enhancers	HUES64 Cell Line	embryonic stem cell
32	chr7:47783400-47784200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr7:47783400-47784200	Enhancers	Muscle Satellite Cultured Cells	--
34	chr7:47783400-47784200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
35	chr7:47783400-47784200	Enhancers	A549	lung

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