Variant report

Variant	rs1567309
Chromosome Location	chr1:48000055-48000056
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	chr1:47993755..47995620-chr1:47998509..48000093,2	K562	blood:
2	chr1:47999483..48002878-chr1:48011210..48014102,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11802608	1.00[EUR][1000 genomes]
rs11808094	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6670118	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6675052	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6678957	1.00[EUR][1000 genomes]
rs6681218	1.00[EUR][1000 genomes]
rs6683513	0.92[AFR][1000 genomes]
rs6688084	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6688278	0.91[AFR][1000 genomes]
rs74069524	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001779	chr1:47884229-48111485	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv871299	chr1:47889417-48057890	Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	esv2755190	chr1:47907580-48048680	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47998600-48000800	Enhancers	Spleen	Spleen
2	chr1:47999200-48000200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
3	chr1:47999200-48000200	Bivalent Enhancer	Fetal Thymus	thymus
4	chr1:47999200-48000600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:47999200-48000600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr1:47999200-48000600	Bivalent Enhancer	Placenta	Placenta
7	chr1:47999200-48000600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
8	chr1:47999200-48000600	Enhancers	HMEC	breast
9	chr1:47999200-48000800	Enhancers	Adipose Nuclei	Adipose
10	chr1:47999200-48001000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:47999200-48001000	Enhancers	Brain Substantia Nigra	brain
12	chr1:47999200-48001000	Enhancers	Fetal Intestine Large	intestine
13	chr1:47999200-48001000	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr1:47999200-48001600	Enhancers	Left Ventricle	heart
15	chr1:47999200-48001600	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr1:47999200-48002000	Weak transcription	Liver	Liver
17	chr1:47999400-48000200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr1:47999400-48000400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr1:47999400-48000400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
20	chr1:47999400-48000600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr1:47999400-48000600	Bivalent Enhancer	NHDF-Ad	bronchial
22	chr1:47999400-48000600	Enhancers	Osteobl	bone
23	chr1:47999600-48000200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr1:47999600-48000200	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
25	chr1:47999600-48000200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr1:47999600-48000200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
27	chr1:47999600-48000400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:47999600-48000400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr1:47999600-48000600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:47999600-48000600	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr1:47999600-48000600	Enhancers	Right Ventricle	heart
32	chr1:47999600-48000800	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:47999600-48000800	Enhancers	Right Atrium	heart
34	chr1:47999600-48000800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
35	chr1:47999600-48001400	Enhancers	Fetal Intestine Small	intestine
36	chr1:47999800-48000200	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:47999800-48000200	Enhancers	Colonic Mucosa	Colon
38	chr1:47999800-48000200	Bivalent Enhancer	Fetal Brain Male	brain
39	chr1:47999800-48000400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
40	chr1:47999800-48000400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr1:47999800-48000400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:47999800-48000400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
43	chr1:47999800-48000400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr1:47999800-48000400	Enhancers	Brain Anterior Caudate	brain
45	chr1:47999800-48000400	Enhancers	Stomach Mucosa	stomach
46	chr1:47999800-48000600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
47	chr1:47999800-48000600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:47999800-48000600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:47999800-48000600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
50	chr1:47999800-48000600	Bivalent Enhancer	Fetal Brain Female	brain

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