Variant report

Variant	rs56010348
Chromosome Location	chr15:58848120-58848121
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:58843959..58845583-chr15:58846564..58848827,2	K562	blood:
2	chr15:58843977..58845847-chr15:58846386..58849270,2	MCF-7	breast:
3	chr15:58836656..58842196-chr15:58843431..58849915,8	K562	blood:
4	chr15:58838134..58839678-chr15:58847125..58849690,2	K562	blood:
5	chr15:58846252..58850551-chr15:58852253..58854849,4	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10459627	0.85[EUR][1000 genomes]
rs11858020	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17190678	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs41294813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4528512	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs45500398	0.89[EUR][1000 genomes]
rs56171273	0.88[ASN][1000 genomes]
rs6084	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7166788	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[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	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
2	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
3	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
4	esv3362898	chr15:58705732-58850860	ZNF genes & repeats Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1043041	chr15:58744505-58876327	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv569601	chr15:58800766-58866156	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58837000-58848400	Enhancers	Fetal Thymus	thymus
2	chr15:58840600-58849200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr15:58840800-58849600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:58844600-58860400	Weak transcription	Primary T cells from cord blood	blood
5	chr15:58844800-58850800	Weak transcription	Liver	Liver
6	chr15:58845400-58857200	Weak transcription	Adipose Nuclei	Adipose
7	chr15:58846600-58849000	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr15:58847000-58848600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr15:58847000-58848800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr15:58847200-58848200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr15:58847200-58848400	Enhancers	GM12878-XiMat	blood
12	chr15:58847200-58848600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr15:58847200-58860400	Weak transcription	Thymus	Thymus
14	chr15:58847400-58848200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
15	chr15:58847400-58848200	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr15:58847400-58848400	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr15:58847400-58848400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr15:58847400-58848400	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr15:58847400-58848600	Enhancers	Duodenum Mucosa	Duodenum
20	chr15:58847400-58848600	Enhancers	Rectal Mucosa Donor 29	rectum
21	chr15:58847400-58849000	Enhancers	K562	blood
22	chr15:58847400-58856000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr15:58847600-58848200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr15:58847600-58848200	Weak transcription	Brain Anterior Caudate	brain
25	chr15:58847600-58848200	Enhancers	Fetal Intestine Large	intestine
26	chr15:58847600-58848200	Enhancers	Stomach Mucosa	stomach
27	chr15:58847600-58848600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr15:58847600-58848600	Enhancers	Fetal Heart	heart
29	chr15:58847800-58848200	Enhancers	HUES64 Cell Line	embryonic stem cell
30	chr15:58847800-58848200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr15:58847800-58848200	Enhancers	Gastric	stomach
32	chr15:58847800-58848200	Enhancers	Small Intestine	intestine
33	chr15:58847800-58848400	Enhancers	Placenta Amnion	Placenta Amnion
34	chr15:58847800-58848600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr15:58847800-58848800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr15:58847800-58848800	Enhancers	Ovary	ovary
37	chr15:58848000-58848200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr15:58848000-58848200	Enhancers	Colonic Mucosa	Colon
39	chr15:58848000-58848200	Bivalent Enhancer	Fetal Muscle Leg	muscle
40	chr15:58848000-58848200	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr15:58848000-58848600	Enhancers	Right Atrium	heart
42	chr15:58848000-58849200	Enhancers	A549	lung

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