Variant report

Variant	rs912386
Chromosome Location	chr13:38192210-38192211
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1333355	1.00[AMR][1000 genomes]
rs1333356	1.00[AMR][1000 genomes]
rs1333357	1.00[AMR][1000 genomes]
rs1333363	1.00[AMR][1000 genomes]
rs1413000	1.00[AMR][1000 genomes]
rs1475245	1.00[AMR][1000 genomes]
rs1570610	1.00[AMR][1000 genomes]
rs1577008	1.00[AMR][1000 genomes]
rs1924282	1.00[AMR][1000 genomes]
rs1924284	1.00[AMR][1000 genomes]
rs1924287	1.00[AMR][1000 genomes]
rs1924294	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1924297	1.00[AMR][1000 genomes]
rs1924305	1.00[AMR][1000 genomes]
rs1924308	1.00[AMR][1000 genomes]
rs1981057	1.00[AMR][1000 genomes]
rs2031272	1.00[AMR][1000 genomes]
rs2031273	1.00[AMR][1000 genomes]
rs2957213	1.00[AMR][1000 genomes]
rs2985157	1.00[AMR][1000 genomes]
rs2985158	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2985166	1.00[AMR][1000 genomes]
rs2985171	1.00[AMR][1000 genomes]
rs2985172	1.00[AMR][1000 genomes]
rs4343144	1.00[AMR][1000 genomes]
rs4418936	1.00[AMR][1000 genomes]
rs4480663	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4595666	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4943530	1.00[AMR][1000 genomes]
rs615491	1.00[AMR][1000 genomes]
rs6563568	1.00[AMR][1000 genomes]
rs662478	1.00[AMR][1000 genomes]
rs669862	1.00[AMR][1000 genomes]
rs7334202	1.00[AMR][1000 genomes]
rs7989413	1.00[AMR][1000 genomes]
rs7990804	1.00[AMR][1000 genomes]
rs8002347	1.00[AMR][1000 genomes]
rs9285117	1.00[AMR][1000 genomes]
rs9547981	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9547989	1.00[AMR][1000 genomes]
rs9548002	1.00[AMR][1000 genomes]
rs9548019	1.00[AMR][1000 genomes]
rs959269	1.00[AMR][1000 genomes]
rs9603229	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][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	nsv948975	chr13:37281203-38280430	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1038850	chr13:37820489-38209571	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	esv34109	chr13:37843819-38276391	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv1045716	chr13:37952062-38394595	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv832583	chr13:38030752-38202000	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv430553	chr13:38184100-38203200	Enhancers Flanking Active TSS Weak transcription Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38189200-38192400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr13:38189400-38192800	Enhancers	NH-A	brain
3	chr13:38189600-38193000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr13:38189800-38193200	Enhancers	NHDF-Ad	bronchial
5	chr13:38190400-38193200	Enhancers	Hela-S3	cervix
6	chr13:38190600-38193000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr13:38190800-38192800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr13:38190800-38193600	Enhancers	HSMMtube	muscle
9	chr13:38190800-38193600	Enhancers	NHLF	lung
10	chr13:38191000-38192400	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr13:38191000-38192600	Enhancers	Placenta Amnion	Placenta Amnion
12	chr13:38191000-38193000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr13:38191000-38193000	Enhancers	HUVEC	blood vessel
14	chr13:38191000-38193400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:38191200-38193200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:38191400-38192800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr13:38191400-38193200	Enhancers	Rectal Smooth Muscle	rectum
18	chr13:38191400-38193400	Enhancers	Muscle Satellite Cultured Cells	--
19	chr13:38191600-38192800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr13:38191600-38195600	Weak transcription	Ovary	ovary
21	chr13:38191800-38195600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr13:38191800-38196000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr13:38191800-38196000	Weak transcription	Fetal Lung	lung
24	chr13:38192000-38193000	Enhancers	HSMM	muscle
25	chr13:38192000-38193400	Enhancers	Osteobl	bone
26	chr13:38192000-38193600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr13:38192000-38195600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr13:38192200-38192400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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