Variant report

Variant	rs6866275
Chromosome Location	chr5:126744878-126744879
allele	A/G
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]
rs10491250	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs10519935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs11745840	1.00[CEU][hapmap]
rs12109001	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1363384	1.00[ASN][1000 genomes]
rs1363386	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1501993	1.00[ASN][1000 genomes]
rs1529468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17164854	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17164923	1.00[CEU][hapmap]
rs17164951	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs17165013	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17165018	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17165019	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17684644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17684655	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17684679	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17684691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17684740	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17684775	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17763126	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs17763172	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1990954	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1990955	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2042941	1.00[ASN][1000 genomes]
rs2042942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2042943	1.00[ASN][1000 genomes]
rs2270933	1.00[CEU][hapmap]
rs3851468	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41298316	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56157640	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60681812	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60998265	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6865700	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6873921	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6874260	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6877383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6897163	1.00[CEU][hapmap]
rs73346906	0.80[ASN][1000 genomes]
rs73348744	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7715710	1.00[ASN][1000 genomes]
rs7737871	1.00[CEU][hapmap]
rs929781	1.00[CEU][hapmap];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs929782	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.93[ASN][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	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
6	nsv526333	chr5:126732427-126746277	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:126691000-126746000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr5:126734800-126753400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr5:126737600-126746400	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:126738600-126745000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr5:126738800-126746200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr5:126742200-126745000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr5:126742200-126745800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr5:126742400-126745000	Weak transcription	Brain Hippocampus Middle	brain
9	chr5:126742400-126745000	Weak transcription	HSMM	muscle
10	chr5:126742400-126746000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr5:126742400-126746000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr5:126742600-126745200	Weak transcription	Brain Angular Gyrus	brain
13	chr5:126742600-126745800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr5:126742600-126745800	Weak transcription	Brain Anterior Caudate	brain
15	chr5:126742800-126745600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:126742800-126746000	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr5:126742800-126746800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr5:126742800-126754000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:126742800-126760200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr5:126742800-126762600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr5:126742800-126782000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr5:126742800-126792400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr5:126743000-126745000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr5:126743000-126745000	Weak transcription	HSMMtube	muscle
25	chr5:126743000-126755600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr5:126743000-126784800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr5:126743200-126745000	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr5:126743200-126746000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr5:126743400-126760000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr5:126744000-126746200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:126744200-126745000	Enhancers	Brain Substantia Nigra	brain
32	chr5:126744400-126745000	Enhancers	Psoas Muscle	Psoas
33	chr5:126744400-126745000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr5:126744400-126746800	Genic enhancers	Fetal Muscle Leg	muscle
35	chr5:126744600-126745000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:126744600-126745000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr5:126744600-126745000	Enhancers	Muscle Satellite Cultured Cells	--
38	chr5:126744600-126745200	Enhancers	Fetal Brain Male	brain
39	chr5:126744600-126745400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr5:126744600-126746200	Enhancers	Brain Cingulate Gyrus	brain
41	chr5:126744800-126745000	Enhancers	Adipose Nuclei	Adipose
42	chr5:126744800-126745000	Enhancers	Aorta	Aorta
43	chr5:126744800-126745200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr5:126744800-126745400	Enhancers	Liver	Liver
45	chr5:126744800-126746000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr5:126744800-126746400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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