Variant report

Variant	rs7494907
Chromosome Location	chr15:50778448-50778449
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	REST	chr15:50778385-50778565	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:50646032..50648709-chr15:50775559..50778909,5	MCF-7	breast:
2	chr15:50778343..50781320-chr15:50786483..50789113,2	K562	blood:
3	chr15:50778128..50780384-chr15:50780584..50782674,2	MCF-7	breast:

Variant related genes	Relation type
USP8	TF binding region
ENSG00000138592	Chromatin interaction
ENSG00000104064	Chromatin interaction
ENSG00000244879	Chromatin interaction

Extended variants
information (count: 103 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:84)

rs_ID	r²[population]
rs10519276	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10519278	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11070774	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11070775	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11070777	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11070778	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11070779	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11070780	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11070781	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11070785	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070786	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070787	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11070788	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11630309	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11631351	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11631398	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11632697	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11632708	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11632823	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11633608	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11633624	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11633765	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11634832	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11637031	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11637104	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11637111	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11638198	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11638390	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12439248	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12440152	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17519466	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17519536	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17597852	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17597915	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17598061	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2414044	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2414045	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34659874	0.83[EUR][1000 genomes]
rs4380013	0.81[EUR][1000 genomes]
rs4774569	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4774570	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4774571	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4774572	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4775883	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4775884	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4775885	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4775886	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4775888	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4775889	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62016938	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62016939	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62016940	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62016942	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62016943	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62016944	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62016945	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62016947	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62019074	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62019075	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62019076	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62019077	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62019078	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62019079	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62019080	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62019082	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62019084	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62019085	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62019087	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019112	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62019113	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62019115	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62019116	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62019117	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7165464	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7168783	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7169778	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7170114	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7181536	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7182569	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7182980	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8030373	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8037446	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs8037553	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs934636	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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
10	nsv1049576	chr15:50744781-50843495	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	nsv1047443	chr15:50744781-51647023	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
12	nsv1051990	chr15:50745814-51133186	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
13	nsv1054970	chr15:50761410-51036625	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
14	nsv457134	chr15:50770868-51184583	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
15	nsv471242	chr15:50770868-51184583	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS 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	54 gene(s)	inside rSNPs	diseases
16	nsv569396	chr15:50770868-51184583	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
17	nsv457135	chr15:50770868-51189707	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
18	nsv569397	chr15:50770868-51189707	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers 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	54 gene(s)	inside rSNPs	diseases
19	nsv1048621	chr15:50775451-51115535	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats 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	47 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	chr15:50733400-50785200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:50734000-50785600	Weak transcription	Fetal Brain Male	brain
3	chr15:50738200-50796800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr15:50741800-50797000	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr15:50744000-50782400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr15:50744000-50789000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr15:50746200-50794400	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr15:50748400-50782400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr15:50748400-50785200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr15:50750000-50794400	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr15:50751000-50779000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr15:50751000-50792400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr15:50751000-50796600	Strong transcription	Fetal Thymus	thymus
14	chr15:50751200-50779000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr15:50753600-50783400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr15:50754400-50797000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:50756000-50785200	Weak transcription	Small Intestine	intestine
18	chr15:50756600-50785000	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr15:50756600-50795800	Strong transcription	Adipose Nuclei	Adipose
20	chr15:50757000-50796600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr15:50757000-50796800	Strong transcription	Liver	Liver
22	chr15:50759400-50783000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr15:50761800-50794000	Strong transcription	HUES48 Cell Line	embryonic stem cell
24	chr15:50762200-50778600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr15:50762200-50778800	Strong transcription	Placenta	Placenta
26	chr15:50762400-50794000	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr15:50763000-50795800	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr15:50763600-50796200	Strong transcription	Primary T cells from cord blood	blood
29	chr15:50764800-50780600	Weak transcription	Pancreas	Pancrea
30	chr15:50764800-50785200	Weak transcription	Esophagus	oesophagus
31	chr15:50764800-50787000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr15:50765200-50782400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr15:50766600-50783000	Weak transcription	Right Ventricle	heart
34	chr15:50766800-50781000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr15:50767000-50782600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr15:50767200-50784600	Weak transcription	Spleen	Spleen
37	chr15:50767400-50779600	Weak transcription	Lung	lung
38	chr15:50767400-50785200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr15:50768000-50796800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr15:50768200-50794000	Strong transcription	Skeletal Muscle Female	skeletal muscle
41	chr15:50768400-50797000	Strong transcription	Duodenum Mucosa	Duodenum
42	chr15:50768400-50797000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr15:50768800-50796000	Strong transcription	Hela-S3	cervix
44	chr15:50770000-50778600	Strong transcription	Muscle Satellite Cultured Cells	--
45	chr15:50770200-50794000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr15:50771200-50780000	Strong transcription	Fetal Muscle Trunk	muscle
47	chr15:50771200-50796000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr15:50771400-50781000	Strong transcription	A549	lung
49	chr15:50771800-50782200	Weak transcription	NHLF	lung
50	chr15:50772400-50796000	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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