Variant report

Variant	rs73125460
Chromosome Location	chr12:58094497-58094498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:58091803..58095471-chr12:58101500..58103505,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1479498	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1689589	0.91[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1689602	0.81[AFR][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	nsv1038741	chr12:57877355-58174506	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
2	nsv541503	chr12:57877355-58174506	Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
3	nsv508676	chr12:58045136-58098538	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
4	nsv899121	chr12:58079825-58177292	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
5	esv1820402	chr12:58092554-58110211	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:58088800-58097800	Strong transcription	Fetal Muscle Trunk	muscle
2	chr12:58088800-58099400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:58088800-58099400	Weak transcription	Small Intestine	intestine
4	chr12:58089000-58095800	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:58089000-58097000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr12:58089000-58109400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr12:58089000-58110000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:58089200-58094600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr12:58089200-58096800	Strong transcription	Primary monocytes fromperipheralblood	blood
10	chr12:58089200-58097200	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr12:58089200-58097200	Weak transcription	Stomach Mucosa	stomach
12	chr12:58089200-58097600	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr12:58089200-58097600	Weak transcription	HMEC	breast
14	chr12:58089200-58103400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:58089200-58115400	Weak transcription	Fetal Heart	heart
16	chr12:58089400-58094600	Strong transcription	Fetal Muscle Leg	muscle
17	chr12:58089400-58094600	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:58089400-58095000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:58089400-58095000	Strong transcription	Stomach Smooth Muscle	stomach
20	chr12:58089400-58096200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr12:58089400-58096600	Strong transcription	Primary T cells from cord blood	blood
22	chr12:58089400-58096800	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr12:58089600-58094600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr12:58089600-58094600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:58089600-58094600	Strong transcription	Adipose Nuclei	Adipose
26	chr12:58089600-58094600	Strong transcription	A549	lung
27	chr12:58089600-58096400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr12:58089600-58097400	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:58089600-58098600	Weak transcription	Hela-S3	cervix
30	chr12:58089800-58101200	Strong transcription	Duodenum Smooth Muscle	Duodenum
31	chr12:58090200-58096400	Weak transcription	Psoas Muscle	Psoas
32	chr12:58090200-58098800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr12:58091000-58109800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr12:58091000-58110200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr12:58091200-58095400	Weak transcription	NH-A	brain
36	chr12:58091200-58097200	Weak transcription	K562	blood
37	chr12:58091200-58101200	Weak transcription	Colonic Mucosa	Colon
38	chr12:58091200-58109600	Weak transcription	Right Ventricle	heart
39	chr12:58091200-58116600	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr12:58091400-58097200	Weak transcription	NHEK	skin
41	chr12:58091400-58108600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr12:58091400-58110200	Weak transcription	HUVEC	blood vessel
43	chr12:58091400-58111600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr12:58091600-58097600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:58091800-58097200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr12:58092000-58095800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr12:58092200-58096600	Weak transcription	NHDF-Ad	bronchial
48	chr12:58092200-58097000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
49	chr12:58092200-58106600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr12:58092400-58096000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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