Variant report

Variant	rs12324457
Chromosome Location	chr15:51036877-51036878
allele	A/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	CEBPB	chr15:51036844-51037178	IMR90	lung:	n/a	chr15:51037010-51037023 chr15:51037007-51037024

No.	Distal block	Cell Line	Cell type
1	chr15:51030364..51031981-chr15:51036798..51038356,2	MCF-7	breast:
2	chr15:51033137..51038584-chr15:51056604..51059356,6	MCF-7	breast:
3	chr15:51036668..51038336-chr15:51056622..51058914,2	MCF-7	breast:

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

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10152232	0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16963872	0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs16963874	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2414066	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57839303	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7162363	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7162403	0.86[AFR][1000 genomes]
rs8025868	0.91[YRI][hapmap];0.95[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8026389	0.92[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8026857	0.92[YRI][hapmap];0.96[AFR][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:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50988000-51056800	Weak transcription	Esophagus	oesophagus
2	chr15:50990000-51038800	Weak transcription	NHLF	lung
3	chr15:50995600-51046000	Weak transcription	Small Intestine	intestine
4	chr15:50997000-51044800	Weak transcription	K562	blood
5	chr15:50998800-51043200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr15:50999200-51041600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:50999800-51043400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr15:51000000-51045000	Weak transcription	NHEK	skin
9	chr15:51000600-51039200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr15:51004000-51056200	Weak transcription	Brain Angular Gyrus	brain
11	chr15:51009200-51041400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr15:51009200-51041400	Strong transcription	Skeletal Muscle Female	skeletal muscle
13	chr15:51009800-51042600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr15:51011400-51040000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr15:51011400-51045000	Weak transcription	Fetal Heart	heart
16	chr15:51013800-51037400	Weak transcription	Spleen	Spleen
17	chr15:51013800-51039200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr15:51016400-51040800	Weak transcription	HepG2	liver
19	chr15:51017600-51039000	Weak transcription	Brain Germinal Matrix	brain
20	chr15:51018200-51039800	Weak transcription	HUVEC	blood vessel
21	chr15:51020000-51045600	Weak transcription	Stomach Mucosa	stomach
22	chr15:51021400-51042000	Strong transcription	Liver	Liver
23	chr15:51022600-51047600	Weak transcription	Aorta	Aorta
24	chr15:51022800-51037400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr15:51022800-51041800	Weak transcription	Pancreas	Pancrea
26	chr15:51023000-51039000	Weak transcription	HSMMtube	muscle
27	chr15:51024000-51042000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr15:51026000-51039200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr15:51026400-51039200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr15:51026600-51042600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr15:51027000-51039200	Weak transcription	HMEC	breast
32	chr15:51027400-51041800	Weak transcription	Psoas Muscle	Psoas
33	chr15:51027600-51039200	Weak transcription	Colonic Mucosa	Colon
34	chr15:51027600-51039400	Weak transcription	Fetal Kidney	kidney
35	chr15:51027800-51037400	Weak transcription	Cortex derived primary cultured neurospheres	brain
36	chr15:51027800-51037400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr15:51027800-51042600	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr15:51027800-51043000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr15:51028400-51039200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr15:51028400-51045000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr15:51028600-51039200	Weak transcription	A549	lung
42	chr15:51028600-51055400	Weak transcription	Dnd41	blood
43	chr15:51029000-51038600	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr15:51029000-51039200	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr15:51029200-51039000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr15:51029400-51039400	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr15:51029400-51039400	Weak transcription	Brain Substantia Nigra	brain
48	chr15:51029600-51037600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr15:51029800-51045400	Weak transcription	Hela-S3	cervix
50	chr15:51029800-51055200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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