Variant report

Variant	rs304553
Chromosome Location	chr5:15426283-15426284
allele	C/T
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:25)

rs_ID	r²[population]
rs11955129	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs167350	0.83[AFR][1000 genomes]
rs304540	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs304551	0.80[AFR][1000 genomes]
rs304555	0.83[AFR][1000 genomes]
rs304556	0.80[AFR][1000 genomes]
rs304558	0.83[AFR][1000 genomes]
rs304564	0.83[AFR][1000 genomes]
rs304581	0.80[AFR][1000 genomes]
rs304583	0.80[AFR][1000 genomes]
rs304585	1.00[AMR][1000 genomes]
rs304588	1.00[AMR][1000 genomes]
rs524928	1.00[AMR][1000 genomes]
rs566631	1.00[AMR][1000 genomes]
rs590066	1.00[AMR][1000 genomes]
rs592200	1.00[AMR][1000 genomes]
rs599166	1.00[AMR][1000 genomes]
rs626130	1.00[AMR][1000 genomes]
rs641200	1.00[AMR][1000 genomes]
rs644859	1.00[AMR][1000 genomes]
rs6554879	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6554881	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs667260	1.00[AMR][1000 genomes]
rs670272	1.00[AMR][1000 genomes]
rs676820	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv516929	chr5:15087791-15870300	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv1023068	chr5:15095221-15863583	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv869040	chr5:15097602-15866117	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv530222	chr5:15151662-15851485	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:15425400-15426600	Active TSS	Stomach Smooth Muscle	stomach
2	chr5:15425400-15427200	Active TSS	Fetal Kidney	kidney
3	chr5:15425600-15426400	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr5:15425600-15426600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr5:15425600-15426600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr5:15425600-15426600	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr5:15425600-15426600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr5:15425600-15426600	Active TSS	Brain Angular Gyrus	brain
9	chr5:15425600-15426600	Active TSS	Brain Cingulate Gyrus	brain
10	chr5:15425600-15426600	Active TSS	Brain Hippocampus Middle	brain
11	chr5:15425600-15426600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr5:15425600-15426600	Active TSS	Brain Substantia Nigra	brain
13	chr5:15425600-15426800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr5:15425600-15426800	Active TSS	Brain Anterior Caudate	brain
15	chr5:15425600-15426800	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr5:15425600-15427200	Enhancers	H1 Cell Line	embryonic stem cell
17	chr5:15425800-15426400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr5:15425800-15426400	Enhancers	iPS-18 Cell Line	embryonic stem cell
19	chr5:15425800-15426400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:15425800-15426400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr5:15425800-15426400	Active TSS	Aorta	Aorta
22	chr5:15425800-15426400	Active TSS	Brain Germinal Matrix	brain
23	chr5:15425800-15426400	Active TSS	Duodenum Smooth Muscle	Duodenum
24	chr5:15425800-15426400	Active TSS	Fetal Brain Female	brain
25	chr5:15425800-15426400	Enhancers	Fetal Heart	heart
26	chr5:15425800-15426400	Active TSS	Fetal Muscle Leg	muscle
27	chr5:15425800-15426400	Active TSS	Ovary	ovary
28	chr5:15425800-15426400	Active TSS	Right Atrium	heart
29	chr5:15425800-15426600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr5:15426000-15426400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr5:15426000-15426800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr5:15426000-15426800	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr5:15426200-15426400	Enhancers	Adipose Nuclei	Adipose
34	chr5:15426200-15426400	Active TSS	Fetal Lung	lung
35	chr5:15426200-15426400	Flanking Active TSS	Rectal Smooth Muscle	rectum
36	chr5:15426200-15426400	Active TSS	NH-A	brain
37	chr5:15426200-15426600	Enhancers	Colon Smooth Muscle	Colon
38	chr5:15426200-15426600	Enhancers	Fetal Stomach	stomach
39	chr5:15426200-15427200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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