Variant report

Variant	rs58473469
Chromosome Location	chr15:74885063-74885064
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:74884960-74885653	GM12892	blood:	n/a	n/a
2	POLR2A	chr15:74884847-74885737	GM12892	blood:	n/a	n/a
3	POLR2A	chr15:74884109-74885093	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:74884083..74885624-chr15:74906855..74909322,2	MCF-7	breast:
2	chr15:74883645..74887048-chr15:74903468..74905388,3	MCF-7	breast:
3	chr15:74884721..74886383-chr15:74907313..74909259,2	MCF-7	breast:
4	chr15:74883904..74885997-chr15:74903287..74906186,2	MCF-7	breast:
5	chr15:74884059..74886045-chr15:74907649..74909590,2	K562	blood:
6	chr15:74882811..74885228-chr15:74890404..74892323,2	K562	blood:
7	chr15:74884292..74886470-chr15:74890567..74893261,3	MCF-7	breast:

No data

Variant related genes	Relation type
ARID3B	TF binding region
ENSG00000260919	Chromatin interaction
ENSG00000179335	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10459648	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11072492	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs11072493	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11072494	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11072495	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11072496	0.89[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11072497	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11072498	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs11629749	0.91[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11629946	0.87[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs12437519	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12439113	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12441932	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12442013	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12442097	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12594447	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1456432	0.82[ASN][1000 genomes]
rs1821848	0.83[AMR][1000 genomes]
rs2068982	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2198843	0.82[ASN][1000 genomes]
rs2415241	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2415242	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2415245	0.83[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4886601	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4887159	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4887160	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4887162	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4887163	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4887165	0.85[ASN][1000 genomes]
rs4887166	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6495115	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6495116	0.85[AFR][1000 genomes]
rs6495117	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6495118	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6495121	0.82[ASN][1000 genomes]
rs7161903	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7171838	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7176095	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7177407	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7178568	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs74025818	0.92[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7497342	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs8023479	0.84[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs8023865	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8026181	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs8026923	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8027066	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8028163	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8028430	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8029116	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8029215	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8037714	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8040745	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs8041030	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8041807	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8043082	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9635320	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9672559	0.84[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1809847	chr15:74734500-74948063	Genic enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	esv1812223	chr15:74869438-74948063	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv904379	chr15:74869438-75027880	Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv904380	chr15:74869438-75142761	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
5	esv1814078	chr15:74884447-74948063	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74840600-74890400	Weak transcription	Stomach Mucosa	stomach
2	chr15:74845800-74890400	Weak transcription	A549	lung
3	chr15:74851800-74887800	Strong transcription	GM12878-XiMat	blood
4	chr15:74854800-74888600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr15:74857600-74888200	Strong transcription	Primary T helper cells PMA-I stimulated	--
6	chr15:74857800-74887600	Strong transcription	Primary T cells from cord blood	blood
7	chr15:74859000-74888600	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr15:74859600-74888000	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr15:74860400-74889000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr15:74860800-74888400	Strong transcription	Primary T helper cells fromperipheralblood	blood
11	chr15:74861200-74889800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr15:74863600-74890800	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr15:74863800-74890400	Weak transcription	Psoas Muscle	Psoas
14	chr15:74864400-74887000	Strong transcription	Primary B cells from peripheral blood	blood
15	chr15:74864400-74888400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr15:74866800-74890800	Weak transcription	Ovary	ovary
17	chr15:74868400-74886800	Strong transcription	Fetal Intestine Small	intestine
18	chr15:74876600-74888800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr15:74877200-74888000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr15:74877400-74890400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr15:74877600-74887000	Strong transcription	Fetal Intestine Large	intestine
22	chr15:74877800-74888800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr15:74878000-74890200	Weak transcription	K562	blood
24	chr15:74878200-74887800	Strong transcription	Fetal Thymus	thymus
25	chr15:74878200-74888400	Strong transcription	Liver	Liver
26	chr15:74879800-74888000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr15:74881000-74886200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr15:74881000-74890400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr15:74881200-74888800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
30	chr15:74881200-74889600	Weak transcription	Fetal Heart	heart
31	chr15:74881200-74890400	Weak transcription	Fetal Kidney	kidney
32	chr15:74881200-74892200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr15:74881400-74888400	Strong transcription	Gastric	stomach
34	chr15:74881400-74889800	Strong transcription	Fetal Stomach	stomach
35	chr15:74881400-74890400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr15:74881400-74890400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr15:74881400-74890400	Weak transcription	Fetal Brain Male	brain
38	chr15:74881400-74892200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr15:74881600-74888200	Strong transcription	H9 Cell Line	embryonic stem cell
40	chr15:74881600-74888400	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr15:74881600-74890400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr15:74881800-74886000	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr15:74881800-74888000	Strong transcription	Duodenum Mucosa	Duodenum
44	chr15:74881800-74888000	Strong transcription	Fetal Muscle Trunk	muscle
45	chr15:74881800-74888400	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr15:74881800-74888400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr15:74881800-74888400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr15:74881800-74888400	Strong transcription	Brain Cingulate Gyrus	brain
49	chr15:74881800-74888800	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr15:74881800-74888800	Strong transcription	Spleen	Spleen

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