Variant report

Variant	rs73110570
Chromosome Location	chr12:39057481-39057482
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs73089546	1.00[EUR][1000 genomes]
rs73089548	1.00[EUR][1000 genomes]
rs73093107	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73095544	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73095547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73095569	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73095574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73096718	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73096720	1.00[EUR][1000 genomes]
rs73096757	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098759	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098760	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73098780	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73099111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73099152	1.00[EUR][1000 genomes]
rs73099166	1.00[EUR][1000 genomes]
rs73099178	1.00[EUR][1000 genomes]
rs73100706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73107159	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73107183	1.00[EUR][1000 genomes]
rs73107196	1.00[EUR][1000 genomes]
rs73107199	1.00[EUR][1000 genomes]
rs73109203	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2422488	chr12:38103874-39070734	ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv469356	chr12:38242029-39187408	Weak transcription Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv558574	chr12:38242029-39187408	Strong transcription ZNF genes & repeats Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv1039538	chr12:38640895-39180750	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv1039821	chr12:38959645-39121578	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1053316	chr12:38959645-39122853	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1043831	chr12:38979065-39117868	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv541479	chr12:38979065-39117868	ZNF genes & repeats Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv1045040	chr12:39038114-39084094	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS	TF binding region Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:39045400-39068000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:39046000-39085400	Weak transcription	Aorta	Aorta
3	chr12:39046800-39080400	Weak transcription	Spleen	Spleen
4	chr12:39051600-39080400	Weak transcription	Lung	lung
5	chr12:39051600-39080800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr12:39054600-39071000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr12:39055400-39058000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
8	chr12:39055800-39100800	Weak transcription	NHEK	skin
9	chr12:39056000-39061200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:39056000-39080200	Weak transcription	Ovary	ovary
11	chr12:39056000-39092200	Weak transcription	Colon Smooth Muscle	Colon
12	chr12:39056000-39114800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr12:39056000-39168600	Weak transcription	Hela-S3	cervix
14	chr12:39056200-39057800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:39056200-39057800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
16	chr12:39056200-39060200	Weak transcription	Liver	Liver
17	chr12:39056200-39078400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:39056200-39078400	Weak transcription	Adipose Nuclei	Adipose
19	chr12:39056200-39079000	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr12:39056200-39080200	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr12:39056400-39058000	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr12:39056400-39058600	Enhancers	Primary hematopoietic stem cells	blood
23	chr12:39056400-39058600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:39056600-39057600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr12:39056800-39058000	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr12:39056800-39083000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:39057000-39057600	Enhancers	NHDF-Ad	bronchial
28	chr12:39057400-39070200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr12:39057400-39083000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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