Variant report

Variant	rs74069524
Chromosome Location	chr1:47999524-47999525
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:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STIL-9	chr1:47999391-47999539	NONHSAT003089

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	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1567309	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6670118	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	0.84[AFR][1000 genomes]
rs6688084	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6688278	0.83[AFR][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:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47998600-47999600	Active TSS	H9 Cell Line	embryonic stem cell
2	chr1:47998600-47999600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr1:47998600-47999600	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr1:47998600-47999600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:47998600-47999600	Active TSS	Brain Angular Gyrus	brain
6	chr1:47998600-47999600	Active TSS	Brain Hippocampus Middle	brain
7	chr1:47998600-47999600	Active TSS	Colon Smooth Muscle	Colon
8	chr1:47998600-47999800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr1:47998600-47999800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
10	chr1:47998600-48000000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:47998600-48000000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:47998600-48000000	Bivalent Enhancer	Fetal Heart	heart
13	chr1:47998600-48000800	Enhancers	Spleen	Spleen
14	chr1:47998800-47999600	Active TSS	H1 Cell Line	embryonic stem cell
15	chr1:47998800-47999600	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr1:47998800-47999600	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr1:47998800-47999600	Bivalent/Poised TSS	Primary T cells from cord blood	blood
18	chr1:47998800-47999600	Active TSS	Brain Germinal Matrix	brain
19	chr1:47998800-47999600	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr1:47998800-47999600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
21	chr1:47998800-47999600	Bivalent Enhancer	Fetal Brain Male	brain
22	chr1:47998800-47999600	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr1:47998800-47999800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr1:47998800-47999800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
25	chr1:47998800-47999800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:47998800-47999800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:47998800-48000000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:47998800-48000000	Enhancers	Lung	lung
29	chr1:47999000-47999600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:47999000-47999600	Active TSS	Primary B cells from cord blood	blood
31	chr1:47999000-47999600	Bivalent/Poised TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr1:47999000-47999600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:47999000-47999600	Active TSS	Right Ventricle	heart
34	chr1:47999000-47999800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr1:47999200-47999600	Bivalent/Poised TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr1:47999200-47999600	Enhancers	NH-A	brain
37	chr1:47999200-47999800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr1:47999200-47999800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
39	chr1:47999200-47999800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
40	chr1:47999200-48000000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:47999200-48000000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:47999200-48000000	Enhancers	Gastric	stomach
43	chr1:47999200-48000000	Enhancers	NHLF	lung
44	chr1:47999200-48000200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
45	chr1:47999200-48000200	Bivalent Enhancer	Fetal Thymus	thymus
46	chr1:47999200-48000600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:47999200-48000600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr1:47999200-48000600	Bivalent Enhancer	Placenta	Placenta
49	chr1:47999200-48000600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
50	chr1:47999200-48000600	Enhancers	HMEC	breast

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