Variant report

Variant	rs6595772
Chromosome Location	chr5:126762280-126762281
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs2108889	1.00[AMR][1000 genomes]
rs55857193	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56408687	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57304460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58622488	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59168209	1.00[AMR][1000 genomes]
rs60007347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60963225	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61170684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6860585	0.87[AFR][1000 genomes]
rs6868588	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6885300	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6889554	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783767	1.00[AMR][1000 genomes]
rs73783787	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783789	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783791	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783793	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783799	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73783802	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73786110	1.00[AMR][1000 genomes]
rs7703677	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1033607	chr5:126385181-127304459	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1019821	chr5:126658200-126934917	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv537894	chr5:126658200-126934917	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	nsv1032587	chr5:126691103-126826978	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv830478	chr5:126721368-126937408	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126742800-126762600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr5:126742800-126782000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr5:126742800-126792400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr5:126743000-126784800	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr5:126755400-126774400	Weak transcription	Skeletal Muscle Female	skeletal muscle
6	chr5:126755800-126763200	Weak transcription	Brain Angular Gyrus	brain
7	chr5:126756000-126768000	Weak transcription	Fetal Brain Male	brain
8	chr5:126756000-126770400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr5:126756800-126763600	Weak transcription	Brain Cingulate Gyrus	brain
10	chr5:126759200-126774000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr5:126760200-126764400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr5:126760400-126764200	Enhancers	Fetal Heart	heart
13	chr5:126760400-126778600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr5:126760600-126764000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr5:126760600-126766200	Enhancers	Brain Hippocampus Middle	brain
16	chr5:126760800-126763400	Genic enhancers	Fetal Muscle Leg	muscle
17	chr5:126761000-126762800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:126761000-126763400	Enhancers	Right Ventricle	heart
19	chr5:126761000-126774800	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr5:126761000-126783400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:126761200-126762400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr5:126761200-126762400	Weak transcription	Pancreas	Pancrea
23	chr5:126761200-126763200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:126761200-126763200	Weak transcription	Brain Substantia Nigra	brain
25	chr5:126761200-126763400	Weak transcription	Brain Anterior Caudate	brain
26	chr5:126761200-126763600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr5:126761200-126763600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr5:126761200-126764000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:126761200-126764800	Weak transcription	HSMM	muscle
30	chr5:126761400-126763200	Weak transcription	Fetal Intestine Large	intestine
31	chr5:126761600-126762600	Weak transcription	Adipose Nuclei	Adipose
32	chr5:126761600-126762800	Weak transcription	HSMMtube	muscle
33	chr5:126761600-126763000	Enhancers	Stomach Smooth Muscle	stomach
34	chr5:126761600-126774000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr5:126761800-126762600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:126761800-126762800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr5:126761800-126762800	Weak transcription	Left Ventricle	heart
38	chr5:126761800-126763400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr5:126761800-126763800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr5:126761800-126764000	Weak transcription	Fetal Intestine Small	intestine
41	chr5:126761800-126776600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr5:126761800-126779600	Weak transcription	Right Atrium	heart

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