Variant report

Variant	rs17702595
Chromosome Location	chr15:51039994-51039995
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	PBX3	chr15:51039779-51040219	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:51039545..51042117-chr15:51054834..51058033,5	MCF-7	breast:
2	chr15:51037042..51039038-chr15:51039309..51041669,2	K562	blood:
3	chr15:51039062..51042009-chr15:51057876..51060168,3	MCF-7	breast:
4	chr15:50976192..50979125-chr15:51038150..51041035,2	K562	blood:

Variant related genes	Relation type
SPPL2A	TF binding region
ENSG00000092439	Chromatin interaction
ENSG00000259773	Chromatin interaction
ENSG00000138600	Chromatin interaction

Extended variants
information (count: 71 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10467	1.00[EUR][1000 genomes]
rs10519285	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1052457	1.00[EUR][1000 genomes]
rs11630124	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11633905	0.89[EUR][1000 genomes]
rs11635800	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11637164	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11637308	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12324521	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28472713	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs61751063	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62017255	1.00[EUR][1000 genomes]
rs62017256	1.00[EUR][1000 genomes]
rs62017257	1.00[EUR][1000 genomes]
rs62017259	1.00[EUR][1000 genomes]
rs62018760	0.85[EUR][1000 genomes]
rs62018762	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62018763	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62018764	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62018765	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62018798	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs62018799	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62018800	1.00[EUR][1000 genomes]
rs62018801	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62018802	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62018803	1.00[EUR][1000 genomes]
rs62018804	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62018809	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62018810	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62018812	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62018813	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62018814	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62018815	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7167416	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72740496	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72742304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72742306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72742311	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8037489	1.00[EUR][1000 genomes]
rs8040136	1.00[EUR][1000 genomes]
rs8042462	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:30 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	nsv569399	chr15:50874964-51562198	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
23	nsv569400	chr15:50874964-51767265	ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
24	nsv1051400	chr15:50890333-51046283	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
25	nsv904212	chr15:50979738-51132170	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
26	nsv1043273	chr15:51004684-51043757	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
27	nsv904213	chr15:51011402-51119731	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
28	nsv1044320	chr15:51016364-51074061	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
29	nsv457137	chr15:51019117-51117524	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
30	nsv569402	chr15:51019117-51117524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50988000-51056800	Weak transcription	Esophagus	oesophagus
2	chr15:50995600-51046000	Weak transcription	Small Intestine	intestine
3	chr15:50997000-51044800	Weak transcription	K562	blood
4	chr15:50998800-51043200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr15:50999200-51041600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr15:50999800-51043400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr15:51000000-51045000	Weak transcription	NHEK	skin
8	chr15:51004000-51056200	Weak transcription	Brain Angular Gyrus	brain
9	chr15:51009200-51041400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr15:51009200-51041400	Strong transcription	Skeletal Muscle Female	skeletal muscle
11	chr15:51009800-51042600	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr15:51011400-51040000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr15:51011400-51045000	Weak transcription	Fetal Heart	heart
14	chr15:51016400-51040800	Weak transcription	HepG2	liver
15	chr15:51020000-51045600	Weak transcription	Stomach Mucosa	stomach
16	chr15:51021400-51042000	Strong transcription	Liver	Liver
17	chr15:51022600-51047600	Weak transcription	Aorta	Aorta
18	chr15:51022800-51041800	Weak transcription	Pancreas	Pancrea
19	chr15:51024000-51042000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr15:51026600-51042600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr15:51027400-51041800	Weak transcription	Psoas Muscle	Psoas
22	chr15:51027800-51042600	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr15:51027800-51043000	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr15:51028400-51045000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr15:51028600-51055400	Weak transcription	Dnd41	blood
26	chr15:51029800-51045400	Weak transcription	Hela-S3	cervix
27	chr15:51029800-51055200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr15:51030400-51042000	Strong transcription	Placenta	Placenta
29	chr15:51031000-51041800	Weak transcription	Brain Anterior Caudate	brain
30	chr15:51031200-51041800	Weak transcription	Rectal Smooth Muscle	rectum
31	chr15:51031200-51045400	Weak transcription	Brain Hippocampus Middle	brain
32	chr15:51031400-51056400	Weak transcription	Fetal Brain Female	brain
33	chr15:51032000-51046400	Weak transcription	Fetal Brain Male	brain
34	chr15:51032000-51056000	Weak transcription	HSMM	muscle
35	chr15:51032400-51040600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr15:51032800-51042000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr15:51033200-51041800	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr15:51033400-51042000	Strong transcription	Primary neutrophils fromperipheralblood	blood
39	chr15:51033400-51049600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr15:51034000-51042800	Strong transcription	Primary monocytes fromperipheralblood	blood
41	chr15:51034000-51043000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr15:51034600-51042200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr15:51034800-51041400	Strong transcription	Duodenum Mucosa	Duodenum
44	chr15:51034800-51042800	Strong transcription	Primary B cells from peripheral blood	blood
45	chr15:51035000-51042000	Strong transcription	Rectal Mucosa Donor 31	rectum
46	chr15:51035600-51055400	Weak transcription	Primary T cells from cord blood	blood
47	chr15:51035800-51042400	Weak transcription	Ovary	ovary
48	chr15:51036000-51041800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr15:51036800-51040000	Strong transcription	Stomach Smooth Muscle	stomach
50	chr15:51036800-51041600	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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