Variant report

Variant	rs73418826
Chromosome Location	chr15:59373815-59373816
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:59373415-59373922	K562	blood:	n/a	n/a

Variant related genes	Relation type
RNF111	TF binding region

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs11071408	0.80[ASN][1000 genomes]
rs12438949	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12441365	0.83[ASN][1000 genomes]
rs12443442	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16941030	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16941040	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16941042	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16941046	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16941051	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16941055	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16941063	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16941069	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16953412	1.00[ASN][1000 genomes]
rs17236439	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044436	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2414620	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28365901	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28376133	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383490	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383491	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383497	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383502	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383504	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383512	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383513	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383514	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383519	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383520	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383523	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383531	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383536	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28383542	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383545	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383546	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383549	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383551	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383552	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383553	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28383561	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28399204	0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs28406885	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28491732	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28615244	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28739024	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2899643	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3751538	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3764193	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3764194	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3803449	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3809531	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4523870	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56187627	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56294483	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56891889	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57057009	0.91[EUR][1000 genomes]
rs57452205	0.82[EUR][1000 genomes]
rs57750394	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57803886	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58014933	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58207484	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58321899	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58827061	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59037515	0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59398329	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs59921711	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60533405	0.91[EUR][1000 genomes]
rs60628647	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60785075	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60899149	0.82[EUR][1000 genomes]
rs60964484	0.82[EUR][1000 genomes]
rs61369543	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61690344	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7165934	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs73418888	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73418890	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73418896	0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74017339	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs74017345	0.91[EUR][1000 genomes]
rs74017356	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74017357	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8035850	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8043536	0.82[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	esv34110	chr15:58949991-59381634	Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv527307	chr15:59103328-60018487	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
3	esv1850946	chr15:59174539-59429160	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	nsv904271	chr15:59249584-59393011	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv520679	chr15:59268410-59376531	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv520872	chr15:59268410-59395184	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	nsv833025	chr15:59336148-59522176	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv520769	chr15:59371663-59375103	Weak transcription Strong transcription ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:59344400-59392800	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr15:59350800-59384600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr15:59354000-59390600	Strong transcription	Primary B cells from peripheral blood	blood
4	chr15:59354400-59396800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr15:59355400-59392800	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr15:59355600-59378400	Strong transcription	Osteobl	bone
7	chr15:59355600-59392800	Strong transcription	Liver	Liver
8	chr15:59355600-59396600	Weak transcription	Fetal Heart	heart
9	chr15:59355800-59386800	Weak transcription	Stomach Mucosa	stomach
10	chr15:59356200-59375400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr15:59359400-59396600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr15:59364800-59392600	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr15:59365200-59377200	Strong transcription	Dnd41	blood
14	chr15:59365400-59378000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr15:59365800-59390600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr15:59366400-59390600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr15:59367200-59375800	Strong transcription	Primary hematopoietic stem cells	blood
18	chr15:59367400-59390800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:59367600-59390200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr15:59367600-59390600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr15:59367800-59389800	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr15:59368000-59379600	Strong transcription	Placenta	Placenta
23	chr15:59368000-59379800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr15:59368200-59377800	Strong transcription	Adipose Nuclei	Adipose
25	chr15:59368200-59378400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr15:59368200-59379600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr15:59368200-59389800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr15:59368200-59390200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr15:59368200-59392800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr15:59368400-59375000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr15:59368600-59389800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr15:59370200-59378000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr15:59370400-59383800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr15:59371600-59375000	Strong transcription	A549	lung
35	chr15:59371600-59392800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr15:59371800-59375400	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr15:59371800-59389200	Strong transcription	Duodenum Mucosa	Duodenum
38	chr15:59372000-59375000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr15:59372000-59375200	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr15:59372000-59380000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr15:59372000-59380200	Strong transcription	GM12878-XiMat	blood
42	chr15:59372400-59374600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr15:59372400-59377400	Strong transcription	Fetal Intestine Small	intestine
44	chr15:59372400-59378000	Strong transcription	Fetal Stomach	stomach
45	chr15:59372400-59386000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr15:59372400-59386000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr15:59372400-59390400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr15:59372600-59374400	Strong transcription	Fetal Brain Female	brain
49	chr15:59372600-59374600	Strong transcription	Placenta Amnion	Placenta Amnion
50	chr15:59372800-59374600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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