Variant report

Variant	rs12591094
Chromosome Location	chr15:50735944-50735945
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:50715577..50719329-chr15:50732574..50736255,6	K562	blood:
2	chr15:50728047..50730000-chr15:50733480..50736822,3	MCF-7	breast:
3	chr15:50735220..50736969-chr15:50737918..50740333,2	K562	blood:

Variant related genes	Relation type
ENSG00000138592	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12050594	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17645209	0.82[ASN][1000 genomes]
rs2241769	0.87[ASN][1000 genomes]
rs4318151	0.80[ASN][1000 genomes]
rs56396299	0.81[EUR][1000 genomes]
rs59820977	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62016946	0.87[ASN][1000 genomes]
rs7164347	0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045456	chr15:50592472-51019873	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv948579	chr15:50645530-51045564	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv524613	chr15:50656449-50868779	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv904210	chr15:50702058-50786024	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1040717	chr15:50715572-50846521	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv1053966	chr15:50715572-51133186	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
7	nsv542383	chr15:50715572-51133186	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
8	nsv1043805	chr15:50715572-51208891	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
9	nsv542384	chr15:50715572-51208891	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 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	chr15:50717400-50747000	Weak transcription	Aorta	Aorta
2	chr15:50717600-50764600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr15:50717600-50774800	Weak transcription	Stomach Mucosa	stomach
4	chr15:50717800-50738600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr15:50717800-50758800	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr15:50718000-50755400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr15:50718000-50757000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr15:50718400-50740400	Weak transcription	Fetal Heart	heart
9	chr15:50722800-50764600	Weak transcription	Esophagus	oesophagus
10	chr15:50723200-50743800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr15:50724600-50755800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr15:50724800-50764600	Weak transcription	Pancreas	Pancrea
13	chr15:50725600-50737000	Weak transcription	NHEK	skin
14	chr15:50728200-50736800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr15:50728200-50750200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr15:50729400-50737400	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr15:50729600-50739200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr15:50730400-50737600	Strong transcription	Fetal Stomach	stomach
19	chr15:50730400-50744400	Strong transcription	Fetal Intestine Small	intestine
20	chr15:50730600-50737400	Strong transcription	Primary T helper cells fromperipheralblood	blood
21	chr15:50730800-50737200	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr15:50730800-50737200	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr15:50730800-50754200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr15:50731000-50737400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr15:50731000-50740600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr15:50731000-50748800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr15:50731200-50737200	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr15:50731200-50737200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr15:50731200-50737200	Strong transcription	Adipose Nuclei	Adipose
30	chr15:50731200-50737200	Strong transcription	HepG2	liver
31	chr15:50731200-50737400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr15:50731200-50737400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr15:50731200-50737400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr15:50731200-50737400	Strong transcription	Placenta	Placenta
35	chr15:50731200-50737600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr15:50731200-50739200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr15:50731200-50742600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr15:50731200-50748400	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr15:50731400-50737200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
40	chr15:50731400-50737200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr15:50731400-50737400	Strong transcription	Liver	Liver
42	chr15:50731400-50737800	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr15:50731600-50737200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr15:50731600-50737200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr15:50731600-50737200	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr15:50731600-50737400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr15:50731600-50737400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr15:50731600-50737400	Strong transcription	Fetal Muscle Leg	muscle
49	chr15:50731600-50737600	Strong transcription	Primary T cells from cord blood	blood
50	chr15:50731600-50737600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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