Variant report

Variant	rs12591830
Chromosome Location	chr15:56335371-56335372
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:56284513..56287737-chr15:56330157..56337447,9	MCF-7	breast:
2	chr15:56285336..56287267-chr15:56334658..56336784,2	K562	blood:
3	chr15:56284483..56288965-chr15:56332457..56336362,9	MCF-7	breast:
4	chr15:56328944..56331210-chr15:56334121..56335862,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000069869	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12593506	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34805914	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7169431	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2761872	chr15:56211065-56426501	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv569546	chr15:56274443-56337527	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	n/a
3	nsv833018	chr15:56325799-56492535	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1045906	chr15:56333180-56473614	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:56330200-56335400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr15:56330400-56336400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr15:56330800-56336400	Enhancers	Fetal Intestine Large	intestine
4	chr15:56330800-56337400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:56331000-56336200	Enhancers	Fetal Intestine Small	intestine
6	chr15:56331400-56335800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr15:56331400-56337800	Enhancers	HMEC	breast
8	chr15:56331600-56335400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:56332200-56336400	Enhancers	Placenta	Placenta
10	chr15:56332800-56335800	Enhancers	NHEK	skin
11	chr15:56333200-56335600	Enhancers	A549	lung
12	chr15:56333400-56335400	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr15:56333400-56335400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr15:56333400-56335800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:56333400-56336000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr15:56333400-56336000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr15:56333400-56337200	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr15:56333400-56342200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr15:56334000-56335400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr15:56334000-56335800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr15:56334000-56336600	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr15:56334000-56337200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr15:56334000-56337400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr15:56334200-56336000	Enhancers	Primary T cells fromperipheralblood	blood
25	chr15:56334200-56336200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr15:56334200-56336600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr15:56334400-56337800	Enhancers	Placenta Amnion	Placenta Amnion
28	chr15:56334600-56335600	Enhancers	HUES6 Cell Line	embryonic stem cell
29	chr15:56334600-56335800	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr15:56334600-56336200	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr15:56334800-56335400	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr15:56334800-56335400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr15:56334800-56335400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr15:56334800-56335400	Enhancers	Left Ventricle	heart
35	chr15:56334800-56335800	Enhancers	Fetal Thymus	thymus
36	chr15:56334800-56336000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr15:56334800-56336000	Enhancers	Thymus	Thymus
38	chr15:56335000-56335400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
39	chr15:56335000-56335400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr15:56335000-56335400	Enhancers	GM12878-XiMat	blood
41	chr15:56335000-56335400	Enhancers	Osteobl	bone
42	chr15:56335000-56335600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr15:56335000-56335800	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr15:56335000-56335800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr15:56335000-56336000	Enhancers	Primary hematopoietic stem cells short term culture	blood
46	chr15:56335000-56336200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr15:56335000-56342200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:56335200-56335400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr15:56335200-56335400	Flanking Active TSS	Dnd41	blood
50	chr15:56335200-56335600	Enhancers	H9 Cell Line	embryonic stem cell

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