Variant report

Variant	rs7999594
Chromosome Location	chr13:38060805-38060806
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1358995	1.00[AMR][1000 genomes]
rs17056128	1.00[AMR][1000 genomes]
rs17056144	1.00[AMR][1000 genomes]
rs17056146	1.00[AMR][1000 genomes]
rs17056268	1.00[AMR][1000 genomes]
rs17056272	1.00[AMR][1000 genomes]
rs17056326	1.00[AMR][1000 genomes]
rs17056331	1.00[AMR][1000 genomes]
rs17056342	1.00[AMR][1000 genomes]
rs57148437	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59153705	1.00[AMR][1000 genomes]
rs60859717	1.00[AMR][1000 genomes]
rs61090146	1.00[AMR][1000 genomes]
rs61547984	1.00[AMR][1000 genomes]
rs6563552	1.00[AMR][1000 genomes]
rs6563554	1.00[AMR][1000 genomes]
rs7332439	1.00[AMR][1000 genomes]
rs7992050	1.00[AMR][1000 genomes]
rs7997279	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7998063	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7999407	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7999882	1.00[AMR][1000 genomes]

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	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	nsv899994	chr13:37816086-38087145	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv832582	chr13:37943056-38124252	Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	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
7	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

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38053600-38063600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr13:38055800-38065200	Weak transcription	HSMMtube	muscle
3	chr13:38056200-38065600	Weak transcription	Rectal Smooth Muscle	rectum
4	chr13:38056400-38061600	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr13:38058600-38065600	Weak transcription	Fetal Stomach	stomach
6	chr13:38059400-38064600	Enhancers	HSMM	muscle
7	chr13:38059400-38066000	Weak transcription	Colon Smooth Muscle	Colon
8	chr13:38059800-38061200	Enhancers	NH-A	brain
9	chr13:38060000-38061400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:38060000-38061800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr13:38060200-38065600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr13:38060600-38064400	Weak transcription	Fetal Lung	lung
13	chr13:38060800-38061000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr13:38060800-38061200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr13:38060800-38061200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr13:38060800-38061200	Enhancers	Muscle Satellite Cultured Cells	--
17	chr13:38060800-38061600	Enhancers	Osteobl	bone
18	chr13:38060800-38062200	Weak transcription	NHDF-Ad	bronchial
19	chr13:38060800-38063200	Weak transcription	NHLF	lung

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