Variant report

Variant	rs6669312
Chromosome Location	chr1:56106677-56106678
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:56100834..56102413-chr1:56105064..56106750,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11577328	0.92[CHD][hapmap];1.00[MEX][hapmap]
rs11580805	1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12081229	0.85[CEU][hapmap];0.88[CHB][hapmap];0.88[JPT][hapmap]
rs12745502	0.83[ASN][1000 genomes]
rs17112591	1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];0.88[JPT][hapmap];1.00[TSI][hapmap];0.80[YRI][hapmap];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs61552741	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72912611	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72912615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72912622	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][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	nsv461617	chr1:56055190-56123510	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
2	nsv546303	chr1:56055190-56123510	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
3	nsv1014866	chr1:56059054-56129092	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	nsv526148	chr1:56101597-56146450	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	n/a

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56103400-56107000	Weak transcription	Gastric	stomach
2	chr1:56104600-56107000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr1:56104600-56107200	Enhancers	NHEK	skin
4	chr1:56105000-56107400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:56105200-56107400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:56105800-56107400	Enhancers	Fetal Stomach	stomach
7	chr1:56106000-56107600	Enhancers	NHLF	lung
8	chr1:56106400-56106800	Flanking Active TSS	Brain Hippocampus Middle	brain
9	chr1:56106400-56107000	Flanking Active TSS	HMEC	breast
10	chr1:56106400-56107200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr1:56106400-56107400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr1:56106400-56107400	Active TSS	Stomach Smooth Muscle	stomach
13	chr1:56106400-56107400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr1:56106600-56106800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr1:56106600-56106800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr1:56106600-56106800	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:56106600-56106800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:56106600-56106800	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr1:56106600-56106800	Flanking Active TSS	Ovary	ovary
20	chr1:56106600-56106800	Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr1:56106600-56106800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr1:56106600-56106800	Active TSS	GM12878-XiMat	blood
23	chr1:56106600-56106800	Active TSS	HSMM	muscle
24	chr1:56106600-56107000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr1:56106600-56107000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:56106600-56107000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
27	chr1:56106600-56107000	Flanking Active TSS	Aorta	Aorta
28	chr1:56106600-56107000	Active TSS	Brain Anterior Caudate	brain
29	chr1:56106600-56107000	Active TSS	Brain Cingulate Gyrus	brain
30	chr1:56106600-56107000	Active TSS	Colonic Mucosa	Colon
31	chr1:56106600-56107000	Flanking Active TSS	Fetal Muscle Leg	muscle
32	chr1:56106600-56107000	Flanking Active TSS	Psoas Muscle	Psoas
33	chr1:56106600-56107200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:56106600-56107200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:56106600-56107200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr1:56106600-56107200	Flanking Active TSS	Primary B cells from peripheral blood	blood
37	chr1:56106600-56107200	Active TSS	Brain Inferior Temporal Lobe	brain
38	chr1:56106600-56107200	Active TSS	Brain Substantia Nigra	brain
39	chr1:56106600-56107200	Active TSS	Duodenum Mucosa	Duodenum
40	chr1:56106600-56107200	Enhancers	Placenta	Placenta
41	chr1:56106600-56107200	Enhancers	Placenta Amnion	Placenta Amnion
42	chr1:56106600-56107200	Active TSS	Right Atrium	heart
43	chr1:56106600-56107200	Active TSS	Thymus	Thymus
44	chr1:56106600-56107200	Flanking Active TSS	HUVEC	blood vessel
45	chr1:56106600-56107200	Flanking Active TSS	Osteobl	bone
46	chr1:56106600-56107400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:56106600-56107400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:56106600-56107400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:56106600-56107400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr1:56106600-56107400	Active TSS	Brain Angular Gyrus	brain

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