Variant report

Variant	rs74059557
Chromosome Location	chr12:1583251-1583252
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	chr12:1574896..1578788-chr12:1580467..1583397,5	K562	blood:
2	chr12:1574896..1578285-chr12:1580467..1583397,5	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs55885871	1.00[AMR][1000 genomes]
rs59333449	1.00[EUR][1000 genomes]
rs59478425	1.00[AMR][1000 genomes]
rs60227368	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73601938	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73601940	1.00[EUR][1000 genomes]
rs74057803	1.00[EUR][1000 genomes]
rs74059526	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045278	chr12:920251-1697030	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv529398	chr12:941915-1741311	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1052559	chr12:1077964-1588543	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer 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
4	nsv1046134	chr12:1153489-1675223	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv541344	chr12:1153489-1675223	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
6	nsv1042863	chr12:1163817-1902302	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv541345	chr12:1163817-1902302	Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv1054178	chr12:1372157-1682699	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
9	nsv541347	chr12:1372157-1682699	Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
10	nsv1035935	chr12:1400974-1608625	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
11	nsv1044918	chr12:1432740-1584649	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
12	nsv541348	chr12:1432740-1584649	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
13	nsv1046515	chr12:1440896-1588543	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
14	esv3397478	chr12:1535455-1730159	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	nsv573	chr12:1560167-1604539	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
16	nsv1049247	chr12:1566534-1671806	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:1552800-1598000	Weak transcription	Esophagus	oesophagus
2	chr12:1555200-1584200	Weak transcription	Spleen	Spleen
3	chr12:1558400-1599400	Weak transcription	Pancreas	Pancrea
4	chr12:1567400-1599600	Weak transcription	Gastric	stomach
5	chr12:1575200-1590000	Weak transcription	Liver	Liver
6	chr12:1575400-1583800	Weak transcription	Aorta	Aorta
7	chr12:1575800-1583800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr12:1577800-1583600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr12:1578000-1583600	Enhancers	NH-A	brain
10	chr12:1578600-1583800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr12:1579200-1598200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:1579600-1600200	Weak transcription	K562	blood
13	chr12:1580600-1583400	Enhancers	NHDF-Ad	bronchial
14	chr12:1580600-1585400	Enhancers	HSMM	muscle
15	chr12:1581000-1583400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr12:1581000-1583400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:1581200-1585000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr12:1581400-1583600	Enhancers	Primary T cells fromperipheralblood	blood
19	chr12:1581400-1583800	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr12:1581400-1586600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:1581600-1583400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr12:1581600-1583400	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr12:1581600-1583600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr12:1581600-1583600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr12:1581600-1585800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr12:1581600-1587400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:1581800-1583400	Enhancers	Primary T cells from cord blood	blood
28	chr12:1581800-1583400	Enhancers	Fetal Lung	lung
29	chr12:1581800-1583400	Enhancers	GM12878-XiMat	blood
30	chr12:1581800-1584000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:1581800-1584200	Enhancers	Adipose Nuclei	Adipose
32	chr12:1581800-1584600	Enhancers	Fetal Stomach	stomach
33	chr12:1581800-1584800	Enhancers	Colon Smooth Muscle	Colon
34	chr12:1581800-1585000	Enhancers	Cortex derived primary cultured neurospheres	brain
35	chr12:1582000-1583400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr12:1582000-1583600	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr12:1582000-1584000	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr12:1582000-1584200	Enhancers	Primary monocytes fromperipheralblood	blood
39	chr12:1582000-1584600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr12:1582200-1586600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr12:1582400-1583400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr12:1582400-1583400	Enhancers	Fetal Brain Male	brain
43	chr12:1582400-1583400	Enhancers	Stomach Smooth Muscle	stomach
44	chr12:1582400-1583400	Flanking Active TSS	HMEC	breast
45	chr12:1582400-1583600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:1582400-1583600	Enhancers	Brain Germinal Matrix	brain
47	chr12:1582400-1583600	Enhancers	Thymus	Thymus
48	chr12:1582400-1584000	Enhancers	Fetal Muscle Trunk	muscle
49	chr12:1582400-1584000	Enhancers	Fetal Thymus	thymus
50	chr12:1582400-1584200	Enhancers	Fetal Muscle Leg	muscle

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