Variant report

Variant	rs12594572
Chromosome Location	chr15:92453046-92453047
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	chr15:92446607..92448986-chr15:92451828..92454199,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12593787	1.00[ASN][1000 genomes]
rs4294800	0.93[EUR][1000 genomes]
rs6496868	0.81[EUR][1000 genomes]
rs6496870	0.83[EUR][1000 genomes]
rs6496872	0.83[EUR][1000 genomes]
rs6496873	0.83[EUR][1000 genomes]
rs6496874	0.84[EUR][1000 genomes]
rs6496875	0.81[EUR][1000 genomes]
rs6496876	0.83[EUR][1000 genomes]
rs7174549	0.84[EUR][1000 genomes]
rs8036437	1.00[ASN][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	nsv1048635	chr15:92073294-92557339	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer 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	14 gene(s)	inside rSNPs	diseases
2	nsv870094	chr15:92367354-92631647	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv534110	chr15:92397220-92592961	Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:92433000-92458400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr15:92438000-92459000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr15:92438800-92455200	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr15:92439000-92453600	Weak transcription	Primary monocytes fromperipheralblood	blood
5	chr15:92442600-92454200	Weak transcription	Lung	lung
6	chr15:92443600-92454000	Weak transcription	Brain Hippocampus Middle	brain
7	chr15:92445600-92460000	Weak transcription	Primary T cells from cord blood	blood
8	chr15:92445800-92462000	Weak transcription	Aorta	Aorta
9	chr15:92446000-92455200	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr15:92446000-92464200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr15:92446400-92455200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr15:92446600-92458400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr15:92446800-92462200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr15:92446800-92465000	Weak transcription	Fetal Stomach	stomach
15	chr15:92447400-92459600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr15:92447800-92454000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr15:92448000-92457000	Weak transcription	Ovary	ovary
18	chr15:92448000-92459600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr15:92448000-92460800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr15:92450400-92454400	Enhancers	Fetal Thymus	thymus
21	chr15:92451400-92455400	Weak transcription	Spleen	Spleen
22	chr15:92451400-92455600	Weak transcription	Esophagus	oesophagus
23	chr15:92451400-92455800	Weak transcription	Right Ventricle	heart
24	chr15:92451600-92453600	Weak transcription	Stomach Smooth Muscle	stomach
25	chr15:92451800-92453600	Weak transcription	Adipose Nuclei	Adipose
26	chr15:92451800-92453600	Weak transcription	Right Atrium	heart
27	chr15:92451800-92455400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr15:92451800-92456400	Weak transcription	Hela-S3	cervix
29	chr15:92451800-92460600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr15:92451800-92461000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr15:92451800-92461600	Weak transcription	Brain Cingulate Gyrus	brain
32	chr15:92451800-92470200	Weak transcription	Small Intestine	intestine
33	chr15:92452000-92456800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr15:92452000-92459000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr15:92452000-92461200	Weak transcription	Osteobl	bone
36	chr15:92452000-92462400	Weak transcription	HMEC	breast
37	chr15:92452000-92465200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:92452400-92455800	Weak transcription	NHEK	skin
39	chr15:92452400-92458400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr15:92452600-92453200	Enhancers	Brain Anterior Caudate	brain
41	chr15:92452600-92453600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
42	chr15:92452600-92454000	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr15:92452600-92454200	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr15:92452600-92454400	Enhancers	Fetal Heart	heart
45	chr15:92452600-92455600	Weak transcription	Brain Substantia Nigra	brain
46	chr15:92452800-92453400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr15:92452800-92455400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr15:92453000-92453200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr15:92453000-92453200	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr15:92453000-92453400	Enhancers	H1 Cell Line	embryonic stem cell

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