Variant report

Variant	rs57112009
Chromosome Location	chr2:182261963-182261964
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:182259081..182260812-chr2:182261016..182263322,2	MCF-7	breast:

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

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

rs_ID	r²[population]
rs10178445	0.81[ASN][1000 genomes]
rs10183522	0.84[ASN][1000 genomes]
rs16867415	0.81[ASN][1000 genomes]
rs16867417	0.84[ASN][1000 genomes]
rs16867418	0.84[ASN][1000 genomes]
rs16867421	0.85[ASN][1000 genomes]
rs16867422	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16867424	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2219754	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56144959	0.97[ASN][1000 genomes]
rs59403061	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60453369	0.84[ASN][1000 genomes]
rs60481141	0.84[ASN][1000 genomes]
rs61097715	0.85[ASN][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	nsv1005870	chr2:181968637-182921439	Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv536063	chr2:181968637-182921439	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1002647	chr2:182078521-182392273	Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv536064	chr2:182078521-182392273	Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
5	nsv834476	chr2:182179249-182360259	Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv961740	chr2:182261557-182269438	Enhancers Weak transcription Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182257200-182262200	Enhancers	Primary hematopoietic stem cells	blood
2	chr2:182258200-182262200	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr2:182258400-182263600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:182258400-182263600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:182258400-182263800	Weak transcription	NHEK	skin
6	chr2:182258600-182262000	Weak transcription	NHDF-Ad	bronchial
7	chr2:182260000-182265600	Enhancers	Dnd41	blood
8	chr2:182260400-182262000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr2:182260400-182262400	Enhancers	HSMM	muscle
10	chr2:182260400-182264200	Enhancers	HSMMtube	muscle
11	chr2:182260800-182262000	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr2:182260800-182262000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:182260800-182263600	Weak transcription	Primary B cells from cord blood	blood
14	chr2:182260800-182263600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr2:182260800-182263800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:182260800-182267200	Weak transcription	GM12878-XiMat	blood
17	chr2:182260800-182277600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr2:182261000-182263800	Weak transcription	Primary T cells from cord blood	blood
19	chr2:182261000-182264000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:182261000-182267400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr2:182261400-182265400	Enhancers	Thymus	Thymus
22	chr2:182261600-182262200	Enhancers	Muscle Satellite Cultured Cells	--
23	chr2:182261800-182262400	Enhancers	Fetal Muscle Leg	muscle
24	chr2:182261800-182262600	Genic enhancers	Fetal Thymus	thymus
25	chr2:182261800-182273400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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