Variant report

Variant	rs12592022
Chromosome Location	chr15:83235298-83235299
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:83230372..83232700-chr15:83234500..83237341,4	MCF-7	breast:
2	chr15:83233945..83235595-chr15:83736586..83738485,2	K562	blood:
3	chr15:83212827..83216127-chr15:83234244..83236895,3	MCF-7	breast:
4	chr15:83217974..83220864-chr15:83234820..83237093,3	MCF-7	breast:
5	chr15:83233152..83235673-chr15:83264929..83267672,2	MCF-7	breast:
6	chr15:83234815..83238335-chr15:83239517..83241616,4	K562	blood:
7	chr15:83223012..83224656-chr15:83233813..83235833,2	K562	blood:
8	chr15:83233938..83235753-chr15:83244078..83245839,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000214575	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10163167	0.89[CHB][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs10520565	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs11633829	1.00[YRI][hapmap]
rs11635624	1.00[YRI][hapmap]
rs12148608	1.00[CEU][hapmap];0.88[CHB][hapmap]
rs17841171	0.88[CEU][hapmap];0.81[CHB][hapmap]
rs28493687	0.87[ASN][1000 genomes]
rs2870965	1.00[YRI][hapmap]
rs2871011	0.88[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs59746564	0.88[ASN][1000 genomes]
rs8023333	0.81[CHB][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs8039549	0.86[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	nsv427965	chr15:82741381-83310525	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv428309	chr15:82741381-83310525	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	esv2758391	chr15:82879646-83310525	Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	esv2760046	chr15:82879646-83310525	Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1035899	chr15:83108446-83315731	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv833071	chr15:83123646-83310510	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83219000-83239400	Weak transcription	Colon Smooth Muscle	Colon
2	chr15:83219800-83239800	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr15:83222000-83239200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr15:83222200-83237800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:83222600-83239400	Weak transcription	Fetal Stomach	stomach
6	chr15:83222600-83239600	Weak transcription	Ovary	ovary
7	chr15:83222600-83239600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr15:83222800-83240600	Weak transcription	Aorta	Aorta
9	chr15:83223800-83239600	Weak transcription	Brain Substantia Nigra	brain
10	chr15:83224800-83235400	Weak transcription	Stomach Smooth Muscle	stomach
11	chr15:83224800-83239800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr15:83232000-83235600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:83232200-83239400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr15:83232600-83239600	Weak transcription	Fetal Lung	lung
15	chr15:83233800-83236600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:83233800-83237200	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr15:83234000-83238600	Weak transcription	Brain Hippocampus Middle	brain
18	chr15:83234200-83235400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr15:83234200-83238800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr15:83234400-83235400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr15:83234400-83236000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr15:83234400-83237600	Weak transcription	Brain Anterior Caudate	brain
23	chr15:83234400-83239400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr15:83234400-83239800	Weak transcription	HSMMtube	muscle
25	chr15:83234600-83235600	Genic enhancers	Brain Angular Gyrus	brain
26	chr15:83234600-83236000	Enhancers	NH-A	brain
27	chr15:83234600-83236200	Enhancers	HepG2	liver
28	chr15:83234600-83239600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr15:83234600-83239800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr15:83234600-83239800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr15:83234800-83236000	Enhancers	A549	lung
32	chr15:83234800-83236200	Enhancers	Osteobl	bone
33	chr15:83234800-83236400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr15:83234800-83238800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr15:83234800-83239400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr15:83234800-83239400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr15:83234800-83239600	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr15:83235000-83235800	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr15:83235000-83236000	Enhancers	NHLF	lung
40	chr15:83235000-83237200	Enhancers	NHDF-Ad	bronchial
41	chr15:83235200-83236000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr15:83235200-83236000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr15:83235200-83236000	Enhancers	Muscle Satellite Cultured Cells	--
44	chr15:83235200-83236000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr15:83235200-83236200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr15:83235200-83237200	Genic enhancers	K562	blood

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