Variant report

Variant	rs1267656
Chromosome Location	chr15:83220099-83220100
allele	A/G
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	chr15:83215297..83217273-chr15:83218215..83220655,3	MCF-7	breast:
2	chr15:83217974..83220864-chr15:83234820..83237093,3	MCF-7	breast:
3	chr15:83217723..83220183-chr15:83220219..83222791,2	K562	blood:
4	chr15:83220029..83221658-chr15:83674558..83676728,2	K562	blood:
5	chr15:83213257..83215653-chr15:83219949..83222640,2	K562	blood:
6	chr15:83219752..83221637-chr15:83227634..83229503,2	MCF-7	breast:
7	chr15:83217263..83220611-chr15:83348215..83350818,3	MCF-7	breast:
8	chr15:83218421..83221235-chr15:83235743..83238150,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000103723	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11631182	0.93[CHB][hapmap]
rs11633991	0.92[CHB][hapmap];0.80[JPT][hapmap]
rs11635044	0.85[CHB][hapmap]
rs11635442	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs11635460	0.85[CHB][hapmap]
rs11635476	0.82[CEU][hapmap];0.93[CHB][hapmap];0.84[AMR][1000 genomes]
rs11638815	0.82[CEU][hapmap];0.93[CHB][hapmap]
rs1431717	0.92[CHB][hapmap];0.82[AMR][1000 genomes]
rs1877242	0.85[CHB][hapmap];0.80[JPT][hapmap]
rs4779048	0.82[CEU][hapmap];0.93[CHB][hapmap]
rs4779049	0.82[CEU][hapmap];0.93[CHB][hapmap]
rs6603030	0.95[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7182320	0.85[CHB][hapmap];0.86[JPT][hapmap]
rs783542	1.00[CEU][hapmap];0.93[CHB][hapmap];0.82[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs783544	0.85[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8033106	0.92[CHB][hapmap];0.80[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv428645	chr15:83069951-83227151	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	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
7	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1267656	RP13-608F4.1	cis	Esophagus Mucosa	GTEx
rs1267656	GOLGA6L10	cis	Esophagus Mucosa	GTEx

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:83213200-83220600	Weak transcription	Skeletal Muscle Male	skeletal muscle
2	chr15:83214000-83224800	Strong transcription	Stomach Smooth Muscle	stomach
3	chr15:83214200-83222600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr15:83214600-83226800	Weak transcription	Gastric	stomach
5	chr15:83215600-83221000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr15:83216000-83220600	Weak transcription	HSMMtube	muscle
7	chr15:83216200-83222400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:83216600-83221000	Weak transcription	Ovary	ovary
9	chr15:83216800-83222400	Weak transcription	NHDF-Ad	bronchial
10	chr15:83216800-83222600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr15:83216800-83235000	Weak transcription	NHLF	lung
12	chr15:83217000-83221600	Strong transcription	Brain Anterior Caudate	brain
13	chr15:83217000-83221600	Strong transcription	Brain Substantia Nigra	brain
14	chr15:83217000-83221800	Strong transcription	Brain Hippocampus Middle	brain
15	chr15:83217000-83221800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr15:83217000-83222000	Strong transcription	Brain Cingulate Gyrus	brain
17	chr15:83217000-83222000	Strong transcription	Brain Inferior Temporal Lobe	brain
18	chr15:83217200-83222000	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr15:83217600-83220400	Enhancers	GM12878-XiMat	blood
20	chr15:83218200-83224800	Enhancers	Breast Myoepithelial Primary Cells	Breast
21	chr15:83218400-83222200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr15:83218600-83222000	Weak transcription	Aorta	Aorta
23	chr15:83218600-83224800	Weak transcription	Fetal Lung	lung
24	chr15:83219000-83239400	Weak transcription	Colon Smooth Muscle	Colon
25	chr15:83219200-83220200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr15:83219200-83221400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr15:83219200-83221400	Enhancers	NHEK	skin
28	chr15:83219200-83222000	Enhancers	HMEC	breast
29	chr15:83219400-83220800	Weak transcription	Brain Angular Gyrus	brain
30	chr15:83219400-83221200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:83219400-83222200	Strong transcription	K562	blood
32	chr15:83219400-83222600	Weak transcription	Osteobl	bone
33	chr15:83219600-83221000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr15:83219600-83221200	Weak transcription	Fetal Stomach	stomach
35	chr15:83219600-83221200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr15:83219800-83221000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:83219800-83225800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr15:83219800-83239800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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