Variant report

Variant	rs58548524
Chromosome Location	chr1:225985556-225985557
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	chr1:225976942..225979751-chr1:225984143..225986122,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10799325	0.80[ASN][1000 genomes]
rs3753651	0.88[ASN][1000 genomes]
rs3753653	0.88[ASN][1000 genomes]
rs3753654	0.88[ASN][1000 genomes]
rs58076029	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs58235164	0.86[ASN][1000 genomes]
rs59409022	0.80[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	esv1795046	chr1:225874059-226091150	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	40 gene(s)	inside rSNPs	diseases
2	esv1834932	chr1:225874059-226091150	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225973800-225986000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr1:225974600-225985600	Weak transcription	Fetal Heart	heart
3	chr1:225975000-225997200	Weak transcription	Brain Substantia Nigra	brain
4	chr1:225975000-225997400	Weak transcription	Aorta	Aorta
5	chr1:225976200-225989000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr1:225978600-225988200	Weak transcription	NHDF-Ad	bronchial
7	chr1:225978800-225985600	Weak transcription	HMEC	breast
8	chr1:225978800-225989800	Weak transcription	HSMMtube	muscle
9	chr1:225978800-225997200	Weak transcription	K562	blood
10	chr1:225979000-225985800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:225979000-225986800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr1:225979000-225987400	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:225979000-225993200	Weak transcription	HUVEC	blood vessel
14	chr1:225979200-225997200	Weak transcription	Right Ventricle	heart
15	chr1:225979600-225987600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr1:225979600-225997200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:225979600-225997400	Weak transcription	Lung	lung
18	chr1:225979600-225997800	Weak transcription	Gastric	stomach
19	chr1:225979800-225988400	Weak transcription	Liver	Liver
20	chr1:225979800-225997200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:225979800-225997200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr1:225979800-225997200	Weak transcription	A549	lung
23	chr1:225979800-225997400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr1:225979800-225997600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
25	chr1:225979800-225997600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr1:225980000-225985600	Weak transcription	Spleen	Spleen
27	chr1:225980000-225987400	Weak transcription	Brain Angular Gyrus	brain
28	chr1:225980000-225988600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:225980000-225990800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:225980000-225997200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:225980000-225997200	Weak transcription	Fetal Stomach	stomach
32	chr1:225980000-225997200	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:225980000-225997200	Weak transcription	Stomach Smooth Muscle	stomach
34	chr1:225980000-225997400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:225980000-225997600	Weak transcription	Left Ventricle	heart
36	chr1:225981200-225997200	Weak transcription	Adipose Nuclei	Adipose
37	chr1:225982200-225997200	Weak transcription	Thymus	Thymus
38	chr1:225982200-225997400	Weak transcription	Fetal Muscle Leg	muscle
39	chr1:225982200-225997400	Weak transcription	Ovary	ovary
40	chr1:225982600-225986000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr1:225982600-225997200	Weak transcription	Placenta	Placenta
42	chr1:225982800-225987400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr1:225982800-225989400	Weak transcription	Fetal Muscle Trunk	muscle
44	chr1:225983000-225995000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr1:225983000-225997000	Weak transcription	Fetal Lung	lung
46	chr1:225983000-225997200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr1:225983000-225997200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:225983000-225997200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:225983200-225985600	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr1:225983200-225987200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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