Variant report

Variant	rs4738544
Chromosome Location	chr8:54896575-54896576
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	chr8:54890358..54891918-chr8:54895667..54898364,2	K562	blood:
2	chr8:54895383..54899266-chr8:54899751..54903552,4	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10113246	0.82[EUR][1000 genomes]
rs1050523	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11986577	0.81[EUR][1000 genomes]
rs11996666	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11997954	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12056381	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12674671	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12676510	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12677696	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2375697	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28494618	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4515510	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4738519	0.92[EUR][1000 genomes]
rs4738556	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs57872947	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs58929175	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59882028	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs61319412	0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6473900	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7009781	0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72614663	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72614664	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72614665	0.95[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7463261	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7464767	0.82[EUR][1000 genomes]
rs9298497	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9643823	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][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	nsv1023983	chr8:54790309-55145770	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv539623	chr8:54790309-55145770	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	esv2758160	chr8:54832990-55016965	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759617	chr8:54832990-55016965	Active TSS Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv427821	chr8:54832990-55016965	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:54866800-54898000	Weak transcription	Colon Smooth Muscle	Colon
2	chr8:54866800-54898200	Weak transcription	Fetal Heart	heart
3	chr8:54871400-54898000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr8:54871600-54932600	Weak transcription	Fetal Brain Male	brain
5	chr8:54872800-54898200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr8:54873600-54898000	Weak transcription	Brain Substantia Nigra	brain
7	chr8:54873800-54897400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:54873800-54897800	Weak transcription	Brain Cingulate Gyrus	brain
9	chr8:54873800-54899800	Weak transcription	Right Ventricle	heart
10	chr8:54874000-54898000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr8:54874000-54898000	Weak transcription	Aorta	Aorta
12	chr8:54874400-54897200	Weak transcription	Brain Hippocampus Middle	brain
13	chr8:54875800-54898000	Weak transcription	Small Intestine	intestine
14	chr8:54876400-54908600	Weak transcription	Psoas Muscle	Psoas
15	chr8:54877600-54898000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr8:54878000-54898000	Weak transcription	Spleen	Spleen
17	chr8:54879000-54898000	Weak transcription	HSMMtube	muscle
18	chr8:54879200-54898200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:54880400-54906600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:54880400-54916000	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr8:54880600-54898000	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr8:54880800-54916000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr8:54881200-54899800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr8:54881200-54912200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr8:54881400-54903800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr8:54882600-54912600	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr8:54887800-54897000	Strong transcription	Primary B cells from peripheral blood	blood
28	chr8:54887800-54898000	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr8:54887800-54901600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr8:54887800-54912600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:54887800-54915000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr8:54888000-54897800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
33	chr8:54888000-54903800	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr8:54888000-54915400	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr8:54888200-54912400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr8:54889000-54898200	Weak transcription	Hela-S3	cervix
37	chr8:54889000-54910400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr8:54890000-54898000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr8:54890000-54901000	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr8:54890000-54904000	Strong transcription	Liver	Liver
41	chr8:54890200-54901200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr8:54890200-54903800	Strong transcription	Stomach Smooth Muscle	stomach
43	chr8:54890200-54912600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr8:54890400-54899800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr8:54890600-54912600	Strong transcription	Fetal Thymus	thymus
46	chr8:54890600-54912800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr8:54890800-54898000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr8:54890800-54906200	Strong transcription	Adipose Nuclei	Adipose
49	chr8:54891000-54898600	Strong transcription	Left Ventricle	heart
50	chr8:54891000-54899400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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