Variant report

Variant	rs12595627
Chromosome Location	chr15:51517100-51517101
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:51516948..51518721-chr15:51520751..51522372,2	K562	blood:
2	chr15:51514557..51518713-chr15:51518929..51521836,3	K562	blood:
3	chr15:51515145..51517510-chr15:51519278..51520848,2	MCF-7	breast:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12592697	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12911554	0.94[CHB][hapmap];0.80[CHD][hapmap];0.84[ASN][1000 genomes]
rs17703883	1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[JPT][hapmap];0.96[ASN][1000 genomes]
rs2414095	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2414097	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2414098	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2899470	0.86[JPT][hapmap]
rs4646	0.86[JPT][hapmap]
rs4775935	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.95[MEX][hapmap];0.97[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6493485	0.81[ASN][1000 genomes]
rs6493487	0.89[CHB][hapmap];0.90[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs67518369	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7172156	0.88[CHB][hapmap];0.83[ASN][1000 genomes]
rs7173595	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7175531	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs727479	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs934632	0.82[CHD][hapmap];0.93[JPT][hapmap];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047443	chr15:50744781-51647023	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv569399	chr15:50874964-51562198	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
3	nsv569400	chr15:50874964-51767265	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
4	nsv904214	chr15:51204364-51535192	Strong transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
5	nsv1049644	chr15:51265447-51560445	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	esv34532	chr15:51276128-51752856	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv2758382	chr15:51282257-51830339	Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	esv2760031	chr15:51282257-51830339	Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv471243	chr15:51345485-52018096	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
10	esv2757600	chr15:51352249-51783981	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 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	chr15:51500000-51520000	Strong transcription	Placenta	Placenta
2	chr15:51501400-51518600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr15:51513200-51520400	Weak transcription	HepG2	liver
4	chr15:51515200-51517400	Enhancers	Primary monocytes fromperipheralblood	blood
5	chr15:51515200-51517600	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr15:51515200-51519600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr15:51515200-51520400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr15:51515200-51521000	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr15:51515200-51521600	Enhancers	NHDF-Ad	bronchial
10	chr15:51515400-51517200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr15:51515400-51517400	Enhancers	HSMM	muscle
12	chr15:51515400-51517400	Enhancers	Osteobl	bone
13	chr15:51515400-51520600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr15:51515600-51517400	Enhancers	HSMMtube	muscle
15	chr15:51515800-51517200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr15:51515800-51517200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr15:51515800-51517400	Enhancers	HUVEC	blood vessel
18	chr15:51515800-51517400	Enhancers	NHLF	lung
19	chr15:51515800-51517600	Enhancers	HMEC	breast
20	chr15:51516200-51520000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr15:51516400-51517200	Enhancers	Brain Anterior Caudate	brain
22	chr15:51516400-51520000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr15:51516400-51520200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr15:51516400-51520400	Weak transcription	Aorta	Aorta
25	chr15:51516600-51517200	Enhancers	NH-A	brain
26	chr15:51516600-51520000	Weak transcription	Hela-S3	cervix
27	chr15:51516600-51520200	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr15:51516800-51517400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr15:51516800-51517600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr15:51516800-51520000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr15:51516800-51520000	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr15:51516800-51520400	Weak transcription	Brain Hippocampus Middle	brain
33	chr15:51517000-51517400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr15:51517000-51517800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr15:51517000-51520400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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