Variant report

Variant	rs10783931
Chromosome Location	chr12:59436179-59436180
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:59311843..59315228-chr12:59434167..59436634,3	MCF-7	breast:
2	chr12:59434389..59437372-chr12:59438954..59440734,2	MCF-7	breast:
3	chr12:59433661..59435709-chr12:59436125..59437780,2	MCF-7	breast:
4	chr12:59431224..59433433-chr12:59436117..59438900,2	MCF-7	breast:
5	chr12:59312784..59315143-chr12:59433489..59436442,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257443	Chromatin interaction
ENSG00000139263	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10747822	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10783932	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1155734	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1155736	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1155737	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11612070	0.88[EUR][1000 genomes]
rs11613145	0.83[EUR][1000 genomes]
rs11613854	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11835541	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1355469	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1373356	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1436665	0.85[EUR][1000 genomes]
rs1444096	0.94[AFR][1000 genomes]
rs1444101	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17121797	0.82[EUR][1000 genomes]
rs17121877	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17121905	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1983241	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2166036	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2371980	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760253	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4760257	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55723344	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55794853	0.85[EUR][1000 genomes]
rs60682355	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7299237	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313693	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74091486	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7978931	0.83[EUR][1000 genomes]
rs907345	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043385	chr12:59149582-59758952	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	nsv1067596	chr12:59167152-59764208	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv492251	chr12:59167152-59764208	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv559048	chr12:59336737-59440659	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv559049	chr12:59359937-59436179	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59431000-59441800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr12:59431200-59437200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr12:59433200-59437400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr12:59433600-59436200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr12:59433800-59437000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:59433800-59437200	Enhancers	HSMM	muscle
7	chr12:59434200-59436200	Enhancers	Fetal Stomach	stomach
8	chr12:59434200-59437000	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr12:59434200-59437200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:59434400-59436200	Enhancers	Colon Smooth Muscle	Colon
11	chr12:59435000-59437400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:59435200-59437000	Enhancers	Hela-S3	cervix
13	chr12:59435200-59437800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr12:59435200-59438200	Enhancers	HMEC	breast
15	chr12:59435200-59438600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:59435400-59436200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:59435600-59436200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr12:59435600-59437400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:59435800-59437400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:59436000-59436600	Enhancers	A549	lung
21	chr12:59436000-59436800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:59436000-59436800	Enhancers	HUVEC	blood vessel
23	chr12:59436000-59437000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:59436000-59437000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:59436000-59437000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr12:59436000-59437000	Enhancers	NH-A	brain
27	chr12:59436000-59437000	Enhancers	Osteobl	bone
28	chr12:59436000-59437400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr12:59436000-59437400	Enhancers	NHDF-Ad	bronchial
30	chr12:59436000-59438000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr12:59436000-59438000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr12:59436000-59438000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr12:59436000-59438200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr12:59436000-59438400	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:59436000-59438400	Enhancers	NHEK	skin
36	chr12:59436000-59438400	Enhancers	NHLF	lung
37	chr12:59436000-59439200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr12:59436000-59440800	Weak transcription	Fetal Kidney	kidney

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