Variant report

Variant	rs12591072
Chromosome Location	chr15:50574048-50574049
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	chr15:50571099..50573315-chr15:50573938..50576520,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12438041	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12438692	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12438726	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12441687	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12591371	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12595772	0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16963635	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs58035812	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61086221	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7167333	0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs7174329	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7181866	0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8031031	0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8552	0.89[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	nsv1044277	chr15:49921547-50702386	Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542380	chr15:49921547-50702386	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1035983	chr15:50223334-50595170	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv542382	chr15:50223334-50595170	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50555400-50579400	Weak transcription	K562	blood
2	chr15:50564000-50574400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr15:50566000-50576200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr15:50566000-50580600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr15:50566400-50576400	Weak transcription	HUVEC	blood vessel
6	chr15:50567200-50576200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr15:50567200-50579600	Weak transcription	Fetal Brain Female	brain
8	chr15:50567200-50579600	Weak transcription	Left Ventricle	heart
9	chr15:50567200-50579600	Weak transcription	Ovary	ovary
10	chr15:50567200-50580000	Weak transcription	Brain Germinal Matrix	brain
11	chr15:50567400-50579600	Weak transcription	Thymus	Thymus
12	chr15:50567600-50579600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr15:50567600-50579600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr15:50567600-50593000	Weak transcription	NHDF-Ad	bronchial
15	chr15:50567800-50579800	Weak transcription	Fetal Muscle Trunk	muscle
16	chr15:50568000-50593400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr15:50568200-50576200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr15:50568200-50579600	Weak transcription	Osteobl	bone
19	chr15:50568200-50592000	Weak transcription	NHLF	lung
20	chr15:50568400-50576000	Weak transcription	Liver	Liver
21	chr15:50568400-50576000	Weak transcription	HSMM	muscle
22	chr15:50568400-50577600	Weak transcription	NH-A	brain
23	chr15:50568600-50579600	Weak transcription	Fetal Intestine Large	intestine
24	chr15:50568600-50580000	Weak transcription	Esophagus	oesophagus
25	chr15:50568800-50576000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr15:50568800-50582000	Weak transcription	Stomach Mucosa	stomach
27	chr15:50568800-50591800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr15:50568800-50592200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr15:50568800-50599200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr15:50569000-50576200	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr15:50569000-50576200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr15:50569000-50578600	Weak transcription	Fetal Muscle Leg	muscle
33	chr15:50569000-50579600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr15:50569200-50576000	Weak transcription	A549	lung
35	chr15:50569200-50579600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr15:50569200-50579600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr15:50569200-50591800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr15:50569200-50592200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr15:50569400-50576000	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr15:50569800-50585400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr15:50570000-50577400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr15:50570000-50577800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr15:50570000-50591800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr15:50570200-50576000	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr15:50570200-50579600	Weak transcription	Stomach Smooth Muscle	stomach
46	chr15:50570200-50591800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr15:50570400-50577800	Weak transcription	Placenta	Placenta
48	chr15:50570400-50579600	Weak transcription	Lung	lung
49	chr15:50570400-50580200	Weak transcription	Gastric	stomach
50	chr15:50570400-50606600	Weak transcription	Brain Cingulate Gyrus	brain

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