Variant report

Variant	rs12591422
Chromosome Location	chr15:58622918-58622919
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:58621143..58623301-chr15:58640418..58642219,2	MCF-7	breast:
2	chr15:58622254..58626014-chr15:59062445..59064794,4	K562	blood:
3	chr15:58622401..58623159-chr15:65588008..65588652,2	Hela-S3	cervix:
4	chr15:58356493..58358577-chr15:58620625..58623547,2	K562	blood:
5	chr15:58621394..58622984-chr15:59063185..59064722,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000199568	Chromatin interaction
ENSG00000245975	Chromatin interaction
ENSG00000128923	Chromatin interaction
ENSG00000259285	Chromatin interaction
ENSG00000128918	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1037041	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1122207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1122208	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11633876	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11638393	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs11855841	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1552505	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1711046	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs183785	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2016415	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs261267	0.88[EUR][1000 genomes]
rs261268	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs261270	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][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	nsv1047246	chr15:58375607-58707158	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv529717	chr15:58519923-58756814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv1042201	chr15:58520746-58780710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv569598	chr15:58552606-58852463	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv904266	chr15:58580921-58689187	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
8	nsv518436	chr15:58620796-58623408	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58617400-58623400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr15:58621200-58624000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr15:58621200-58624800	Enhancers	Primary T cells from cord blood	blood
4	chr15:58621400-58623400	Enhancers	NHDF-Ad	bronchial
5	chr15:58621400-58624200	Flanking Active TSS	Liver	Liver
6	chr15:58621400-58625200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr15:58621800-58624400	Enhancers	Fetal Kidney	kidney
8	chr15:58621800-58625400	Enhancers	Primary B cells from cord blood	blood
9	chr15:58622000-58623000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
10	chr15:58622000-58623200	Enhancers	Dnd41	blood
11	chr15:58622000-58623200	Enhancers	NHLF	lung
12	chr15:58622000-58623600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr15:58622000-58623600	Enhancers	Small Intestine	intestine
14	chr15:58622000-58623800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:58622000-58623800	Enhancers	iPS-20b Cell Line	embryonic stem cell
16	chr15:58622000-58624000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr15:58622000-58624000	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr15:58622000-58624000	Enhancers	Stomach Smooth Muscle	stomach
19	chr15:58622000-58624200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr15:58622000-58624400	Flanking Active TSS	Hela-S3	cervix
21	chr15:58622000-58624600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr15:58622000-58624600	Enhancers	Thymus	Thymus
23	chr15:58622000-58625000	Enhancers	H9 Cell Line	embryonic stem cell
24	chr15:58622000-58625200	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr15:58622000-58625200	Enhancers	Colonic Mucosa	Colon
26	chr15:58622000-58625400	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr15:58622000-58625400	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr15:58622000-58625400	Enhancers	Fetal Muscle Leg	muscle
29	chr15:58622000-58625400	Enhancers	Fetal Thymus	thymus
30	chr15:58622000-58625400	Flanking Active TSS	HepG2	liver
31	chr15:58622000-58625600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr15:58622000-58625600	Enhancers	Placenta Amnion	Placenta Amnion
33	chr15:58622000-58625800	Enhancers	Esophagus	oesophagus
34	chr15:58622000-58626000	Enhancers	Fetal Stomach	stomach
35	chr15:58622000-58626000	Enhancers	Left Ventricle	heart
36	chr15:58622000-58626000	Enhancers	Pancreas	Pancrea
37	chr15:58622000-58626000	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr15:58622000-58626000	Enhancers	Right Atrium	heart
39	chr15:58622000-58627200	Enhancers	Placenta	Placenta
40	chr15:58622200-58623200	Bivalent Enhancer	A549	lung
41	chr15:58622200-58623400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr15:58622200-58623400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr15:58622200-58623400	Enhancers	Adipose Nuclei	Adipose
44	chr15:58622200-58623600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr15:58622200-58623600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr15:58622200-58623600	Enhancers	Gastric	stomach
47	chr15:58622200-58623800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr15:58622200-58623800	Enhancers	Brain Anterior Caudate	brain
49	chr15:58622200-58623800	Enhancers	Lung	lung
50	chr15:58622200-58624000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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