Variant report

Variant	rs17056146
Chromosome Location	chr13:38169014-38169015
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1358995	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17056128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17056136	1.00[EUR][1000 genomes]
rs17056144	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17056209	1.00[EUR][1000 genomes]
rs17056217	1.00[EUR][1000 genomes]
rs17056268	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17056272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17056282	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17056326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17056331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17056342	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2957211	1.00[EUR][1000 genomes]
rs3887894	1.00[EUR][1000 genomes]
rs4387481	1.00[EUR][1000 genomes]
rs4391926	1.00[EUR][1000 genomes]
rs57148437	1.00[AMR][1000 genomes]
rs57947059	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59153705	1.00[AMR][1000 genomes]
rs60859717	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61090146	1.00[AMR][1000 genomes]
rs61547984	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6563552	1.00[AMR][1000 genomes]
rs6563554	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7332439	1.00[AMR][1000 genomes]
rs7992050	1.00[AMR][1000 genomes]
rs7996522	1.00[EUR][1000 genomes]
rs7997279	1.00[AMR][1000 genomes]
rs7998063	1.00[AMR][1000 genomes]
rs7999407	1.00[AMR][1000 genomes]
rs7999594	1.00[AMR][1000 genomes]
rs7999882	1.00[AMR][1000 genomes]
rs9532068	1.00[EUR][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	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

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38139000-38171000	Weak transcription	Fetal Kidney	kidney
2	chr13:38150000-38171000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr13:38150200-38171400	Weak transcription	Colon Smooth Muscle	Colon
4	chr13:38152600-38171200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr13:38161400-38169200	Weak transcription	NH-A	brain
6	chr13:38163200-38171200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr13:38165800-38182400	Weak transcription	Placenta	Placenta
8	chr13:38167600-38170000	Active TSS	Fetal Muscle Leg	muscle
9	chr13:38167600-38171200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr13:38168000-38169400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr13:38168200-38169200	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr13:38168400-38169400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr13:38168400-38169800	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr13:38168400-38169800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr13:38168400-38169800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr13:38168400-38170000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr13:38168600-38169800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr13:38168600-38169800	Active TSS	Right Atrium	heart
19	chr13:38168800-38169200	Weak transcription	Fetal Heart	heart
20	chr13:38168800-38169400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr13:38168800-38169400	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr13:38168800-38169400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr13:38168800-38169400	Genic enhancers	Fetal Lung	lung
24	chr13:38168800-38169600	Enhancers	H1 Cell Line	embryonic stem cell
25	chr13:38168800-38169800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr13:38168800-38169800	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr13:38168800-38169800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr13:38168800-38170000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr13:38168800-38171000	Enhancers	NHDF-Ad	bronchial
30	chr13:38168800-38171400	Transcr. at gene 5' and 3'	Osteobl	bone
31	chr13:38168800-38173400	Active TSS	Fetal Muscle Trunk	muscle
32	chr13:38169000-38169400	Enhancers	NHLF	lung
33	chr13:38169000-38169600	Enhancers	Pancreatic Islets	Pancreatic Islet
34	chr13:38169000-38169800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr13:38169000-38170000	Active TSS	Fetal Stomach	stomach

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