Variant report

Variant	rs17190678
Chromosome Location	chr15:58847372-58847373
allele	C/G
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: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10152558	0.85[CEU][hapmap];0.86[JPT][hapmap]
rs10459627	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11858020	0.92[CEU][hapmap];0.80[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.88[MEX][hapmap];0.89[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17269397	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.83[MEX][hapmap];0.88[MKK][hapmap]
rs41294813	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4528512	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs45500398	0.88[EUR][1000 genomes]
rs56010348	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56171273	0.93[ASN][1000 genomes]
rs6083	0.87[MEX][hapmap]
rs6084	0.81[CEU][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7166788	0.96[CEU][hapmap];0.90[CHB][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[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:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58829000-58847600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr15:58837000-58848400	Enhancers	Fetal Thymus	thymus
3	chr15:58840600-58849200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:58840800-58849600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr15:58844600-58848000	Weak transcription	A549	lung
6	chr15:58844600-58860400	Weak transcription	Primary T cells from cord blood	blood
7	chr15:58844800-58850800	Weak transcription	Liver	Liver
8	chr15:58845000-58847400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr15:58845000-58847400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
10	chr15:58845000-58847400	Weak transcription	Brain Anterior Caudate	brain
11	chr15:58845000-58847400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr15:58845000-58847600	Weak transcription	Fetal Heart	heart
13	chr15:58845000-58847800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr15:58845000-58848000	Weak transcription	Right Atrium	heart
15	chr15:58845200-58847400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr15:58845200-58847600	Weak transcription	Fetal Intestine Large	intestine
17	chr15:58845200-58847600	Weak transcription	Fetal Intestine Small	intestine
18	chr15:58845200-58847800	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr15:58845200-58847800	Weak transcription	Small Intestine	intestine
20	chr15:58845200-58848000	Weak transcription	Colonic Mucosa	Colon
21	chr15:58845400-58847400	Weak transcription	Duodenum Mucosa	Duodenum
22	chr15:58845400-58847400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr15:58845400-58847800	Weak transcription	Ovary	ovary
24	chr15:58845400-58857200	Weak transcription	Adipose Nuclei	Adipose
25	chr15:58845600-58847400	Weak transcription	K562	blood
26	chr15:58845600-58847800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:58845600-58847800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr15:58846600-58849000	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr15:58846800-58847400	Enhancers	Breast Myoepithelial Primary Cells	Breast
30	chr15:58847000-58847400	Enhancers	Monocytes-CD14+_RO01746	blood
31	chr15:58847000-58848600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr15:58847000-58848800	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr15:58847200-58847600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr15:58847200-58847800	Enhancers	Brain Hippocampus Middle	brain
35	chr15:58847200-58848000	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr15:58847200-58848000	Enhancers	Fetal Kidney	kidney
37	chr15:58847200-58848200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr15:58847200-58848400	Enhancers	GM12878-XiMat	blood
39	chr15:58847200-58848600	Enhancers	H1 Cell Line	embryonic stem cell
40	chr15:58847200-58860400	Weak transcription	Thymus	Thymus

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