Variant report

Variant	rs12591076
Chromosome Location	chr15:75720260-75720261
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	chr15:75720194..75723083-chr15:75725869..75729204,4	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12591309	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12591954	1.00[EUR][1000 genomes]
rs12592026	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12592505	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12593372	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12593870	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12594671	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs28372857	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34234047	0.81[ASN][1000 genomes]
rs4886434	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4886435	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4886445	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4886685	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4886689	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4886697	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4886701	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8032031	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8035510	1.00[EUR][1000 genomes]
rs8035796	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9788768	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531901	chr15:75600108-76019966	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	esv3445070	chr15:75623136-76045948	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
3	nsv530345	chr15:75628556-75951011	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv1048028	chr15:75637515-76019967	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	161 gene(s)	inside rSNPs	diseases
5	nsv542436	chr15:75637515-76019967	Strong transcription Weak transcription Flanking Active TSS Genic enhancers 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	161 gene(s)	inside rSNPs	diseases
6	nsv482802	chr15:75686519-75899896	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
7	esv1800424	chr15:75692303-75991451	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
8	nsv904387	chr15:75706296-75806911	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:75662400-75731400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr15:75662600-75722800	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr15:75662800-75723000	Strong transcription	HUES6 Cell Line	embryonic stem cell
4	chr15:75665800-75723200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr15:75683000-75730200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr15:75703200-75732200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr15:75704800-75728200	Weak transcription	Psoas Muscle	Psoas
8	chr15:75704800-75742200	Weak transcription	Fetal Brain Male	brain
9	chr15:75705200-75738200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr15:75705400-75720600	Weak transcription	Aorta	Aorta
11	chr15:75705400-75722600	Weak transcription	Gastric	stomach
12	chr15:75705400-75724600	Weak transcription	Fetal Heart	heart
13	chr15:75705400-75741000	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr15:75705400-75742200	Weak transcription	Right Ventricle	heart
15	chr15:75705600-75720400	Weak transcription	Brain Angular Gyrus	brain
16	chr15:75706600-75720400	Weak transcription	Fetal Kidney	kidney
17	chr15:75708800-75723200	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr15:75708800-75740400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr15:75709000-75723000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr15:75709000-75723000	Strong transcription	Fetal Thymus	thymus
21	chr15:75709000-75723200	Strong transcription	Dnd41	blood
22	chr15:75709400-75723200	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr15:75709800-75723000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr15:75710000-75722800	Strong transcription	Fetal Muscle Trunk	muscle
25	chr15:75710000-75723000	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr15:75710200-75722600	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr15:75710200-75722800	Strong transcription	Fetal Intestine Large	intestine
28	chr15:75710400-75722400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr15:75710600-75722800	Strong transcription	Primary neutrophils fromperipheralblood	blood
30	chr15:75710800-75722800	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr15:75710800-75722800	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr15:75712400-75720600	Weak transcription	NHDF-Ad	bronchial
33	chr15:75713200-75720600	Weak transcription	Colon Smooth Muscle	Colon
34	chr15:75713200-75722800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr15:75713200-75731600	Weak transcription	Stomach Mucosa	stomach
36	chr15:75714400-75722800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr15:75714400-75722800	Strong transcription	Fetal Stomach	stomach
38	chr15:75714400-75723400	Strong transcription	Fetal Intestine Small	intestine
39	chr15:75715200-75720400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr15:75715200-75720400	Weak transcription	HMEC	breast
41	chr15:75715200-75720600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr15:75715200-75721000	Weak transcription	NH-A	brain
43	chr15:75715200-75735400	Weak transcription	Colonic Mucosa	Colon
44	chr15:75715400-75720400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr15:75715400-75720400	Weak transcription	Brain Substantia Nigra	brain
46	chr15:75715400-75720400	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr15:75715400-75720400	Weak transcription	HSMMtube	muscle
48	chr15:75715400-75720400	Weak transcription	K562	blood
49	chr15:75715400-75720400	Weak transcription	NHEK	skin
50	chr15:75715400-75720400	Weak transcription	Osteobl	bone

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