Variant report

Variant	rs56238990
Chromosome Location	chr17:46583975-46583976
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46581860..46584451-chr17:57920963..57923173,2	MCF-7	breast:
2	chr17:46577428..46579209-chr17:46582700..46584447,2	K562	blood:
3	chr17:46582615..46585067-chr17:46605741..46607260,2	MCF-7	breast:
4	chr17:46583694..46585677-chr17:46589290..46592117,3	K562	blood:
5	chr17:46581827..46584181-chr20:55513887..55516591,2	MCF-7	breast:
6	chr17:46566753..46569471-chr17:46581683..46584279,2	MCF-7	breast:
7	chr17:46581684..46585389-chr17:46696226..46700293,4	K562	blood:
8	chr17:46583450..46585256-chr17:46588689..46590687,2	MCF-7	breast:
9	chr17:46569342..46572136-chr17:46582152..46585021,2	MCF-7	breast:
10	chr17:46582924..46585539-chr17:46653556..46656243,2	MCF-7	breast:
11	chr17:46582522..46585256-chr17:46587191..46589212,2	K562	blood:
12	chr17:46572156..46575042-chr17:46583182..46586038,3	MCF-7	breast:

No data

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1022086	0.87[ASN][1000 genomes]
rs12951643	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1553748	0.82[ASN][1000 genomes]
rs1553755	0.82[ASN][1000 genomes]
rs1811330	0.88[EUR][1000 genomes]
rs36087615	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55762900	0.92[EUR][1000 genomes]
rs56315233	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60944926	0.84[ASN][1000 genomes]
rs6504299	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs953732	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9747796	0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 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	chr17:46574600-46588000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr17:46580200-46584600	Enhancers	Placenta Amnion	Placenta Amnion
3	chr17:46580800-46584000	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr17:46582000-46584200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
5	chr17:46582200-46584000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
6	chr17:46582400-46584400	Enhancers	HMEC	breast
7	chr17:46582400-46584600	Enhancers	GM12878-XiMat	blood
8	chr17:46582600-46584200	Enhancers	NH-A	brain
9	chr17:46582600-46584600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr17:46582600-46585000	Enhancers	HSMM	muscle
11	chr17:46582800-46584000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr17:46582800-46584000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr17:46582800-46584400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr17:46582800-46584400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr17:46582800-46584600	Enhancers	K562	blood
16	chr17:46583000-46584000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chr17:46583000-46584000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr17:46583000-46584000	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr17:46583000-46584000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr17:46583000-46584000	Enhancers	Fetal Stomach	stomach
21	chr17:46583000-46584200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr17:46583000-46584200	Enhancers	NHDF-Ad	bronchial
23	chr17:46583000-46584400	Enhancers	HSMMtube	muscle
24	chr17:46583200-46584000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr17:46583200-46584000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr17:46583200-46584200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr17:46583200-46585000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr17:46583600-46584200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr17:46583600-46590200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr17:46583800-46584000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
31	chr17:46583800-46584400	Enhancers	A549	lung
32	chr17:46583800-46588000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr17:46583800-46588000	Weak transcription	NHLF	lung
34	chr17:46583800-46590400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr17:46583800-46590400	Weak transcription	Colon Smooth Muscle	Colon

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