Variant report

Variant	rs58959948
Chromosome Location	chr15:50849531-50849532
allele	C/T
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	chr15:50847894-50849920	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000259684	TF binding region

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs12101792	0.95[AFR][1000 genomes]
rs12102160	0.95[AFR][1000 genomes]
rs16963806	1.00[AFR][1000 genomes]
rs16963808	1.00[AFR][1000 genomes]
rs16963812	1.00[AFR][1000 genomes]
rs28422095	1.00[AFR][1000 genomes]
rs28452820	0.95[AFR][1000 genomes]
rs28464149	1.00[AFR][1000 genomes]
rs28478598	1.00[AFR][1000 genomes]
rs28504102	1.00[AFR][1000 genomes]
rs28575682	0.95[AFR][1000 genomes]
rs28613018	1.00[AFR][1000 genomes]
rs28699109	1.00[AFR][1000 genomes]
rs28763655	1.00[AFR][1000 genomes]
rs28806878	0.95[AFR][1000 genomes]
rs28828095	1.00[AFR][1000 genomes]
rs55996689	1.00[AFR][1000 genomes]
rs56277600	1.00[AFR][1000 genomes]
rs58579351	1.00[AFR][1000 genomes]
rs58700289	1.00[AFR][1000 genomes]
rs58899101	0.97[AFR][1000 genomes]
rs59036721	1.00[AFR][1000 genomes]
rs59929123	0.81[AFR][1000 genomes]
rs60192084	1.00[AFR][1000 genomes]
rs61216053	1.00[AFR][1000 genomes]
rs73395523	1.00[AFR][1000 genomes]
rs73395527	1.00[AFR][1000 genomes]
rs73395537	1.00[AFR][1000 genomes]
rs73395538	1.00[AFR][1000 genomes]
rs73395545	1.00[AFR][1000 genomes]
rs73395552	1.00[AFR][1000 genomes]
rs73395590	1.00[AFR][1000 genomes]
rs73397406	1.00[AFR][1000 genomes]
rs73397410	1.00[AFR][1000 genomes]
rs73397449	0.86[AFR][1000 genomes]
rs73397461	0.92[AFR][1000 genomes]
rs73397468	0.92[AFR][1000 genomes]
rs73397473	0.88[AFR][1000 genomes]
rs73408905	1.00[AFR][1000 genomes]
rs73408906	1.00[AFR][1000 genomes]
rs73408921	1.00[AFR][1000 genomes]
rs73408925	0.97[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:27 , 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	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	nsv1047039	chr15:50782070-51187804	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' 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
18	nsv542385	chr15:50782070-51187804	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
19	nsv457136	chr15:50789125-51294995	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS 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 target site	66 gene(s)	inside rSNPs	diseases
20	nsv569398	chr15:50789125-51294995	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic 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 target site	66 gene(s)	inside rSNPs	diseases
21	nsv431389	chr15:50795835-50979738	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
22	nsv1036081	chr15:50818569-51097229	Strong transcription Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
23	nsv1043387	chr15:50822035-50940979	Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
24	nsv1055112	chr15:50822035-51133186	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS 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	46 gene(s)	inside rSNPs	diseases
25	nsv1050385	chr15:50843495-50949798	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
26	nsv1042372	chr15:50846461-51208891	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
27	nsv542386	chr15:50846461-51208891	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50834600-50853200	Weak transcription	HSMMtube	muscle
2	chr15:50836200-50850000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr15:50837000-50850600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr15:50837000-50851600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr15:50837000-50852800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr15:50837000-50862200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr15:50837000-50882800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr15:50841200-50849800	Weak transcription	Stomach Smooth Muscle	stomach
9	chr15:50841800-50849800	Weak transcription	Fetal Stomach	stomach
10	chr15:50841800-50852800	Weak transcription	Placenta	Placenta
11	chr15:50843400-50850400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:50843600-50860800	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr15:50843800-50851600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr15:50844000-50855200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr15:50844200-50862200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr15:50845200-50851800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr15:50845600-50851600	Weak transcription	GM12878-XiMat	blood
18	chr15:50845800-50849600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr15:50846000-50850400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr15:50846000-50950800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:50846200-50867000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr15:50846600-50858600	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr15:50846800-50850400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr15:50846800-50860800	Weak transcription	NHLF	lung
25	chr15:50847000-50853400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr15:50847000-50920600	Weak transcription	Aorta	Aorta
27	chr15:50847200-50849800	Weak transcription	Fetal Intestine Large	intestine
28	chr15:50847400-50849800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr15:50847400-50852400	Weak transcription	Primary B cells from cord blood	blood
30	chr15:50847400-50852600	Weak transcription	NHDF-Ad	bronchial
31	chr15:50847400-50852800	Weak transcription	Hela-S3	cervix
32	chr15:50847400-50855200	Weak transcription	HUVEC	blood vessel
33	chr15:50847600-50850000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr15:50847600-50850400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr15:50847600-50854400	Weak transcription	Fetal Muscle Leg	muscle
36	chr15:50847600-50865200	Weak transcription	Rectal Smooth Muscle	rectum
37	chr15:50847600-50866400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr15:50847800-50850800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr15:50847800-50851600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr15:50847800-50852800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr15:50847800-50853000	Weak transcription	HMEC	breast
42	chr15:50847800-50853200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr15:50847800-50853200	Weak transcription	NHEK	skin
44	chr15:50847800-50872200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr15:50848000-50850400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr15:50848000-50853000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr15:50848000-50853000	Weak transcription	Fetal Thymus	thymus
48	chr15:50848000-50853200	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr15:50848000-50855000	Weak transcription	Fetal Brain Female	brain
50	chr15:50848000-50855200	Weak transcription	Right Ventricle	heart

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