Variant report

Variant	rs56815391
Chromosome Location	chr15:55612216-55612217
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:55612181-55612590	GM12892	blood:	n/a	n/a
2	HCFC1	chr15:55610390-55612750	Hela-S3	cervix:	n/a	n/a
3	RCOR1	chr15:55610733-55612863	IMR90	lung:	n/a	n/a
4	MAX	chr15:55612128-55612668	NB4	blood:	n/a	n/a
5	HCFC1	chr15:55610979-55612477	K562	blood:	n/a	n/a
6	IRF1	chr15:55610967-55613131	K562	blood:	n/a	chr15:55613008-55613022 chr15:55613011-55613023 chr15:55612617-55612631 chr15:55612619-55612633 chr15:55613012-55613026 chr15:55613011-55613023 chr15:55613012-55613022 chr15:55611277-55611290 chr15:55612619-55612630 chr15:55611276-55611296
7	IRF1	chr15:55610942-55612597	K562	blood:	n/a	chr15:55611277-55611290 chr15:55611276-55611296
8	CREB1	chr15:55612044-55612620	GM12878	blood:	n/a	n/a
9	NR2F2	chr15:55612065-55612610	K562	blood:	n/a	n/a
10	MAFF	chr15:55611693-55612316	K562	blood:	n/a	n/a
11	POLR2A	chr15:55610801-55612365	MCF10A-Er-Src	breast:	n/a	n/a
12	TBP	chr15:55610917-55612639	GM12878	blood:	n/a	n/a
13	TBP	chr15:55610858-55612294	Hela-S3	cervix:	n/a	n/a
14	CREB1	chr15:55612199-55612604	K562	blood:	n/a	n/a
15	JUND	chr15:55610921-55612597	K562	blood:	n/a	n/a
16	POLR2A	chr15:55610854-55612726	PBDE	blood:	n/a	n/a
17	CTCF	chr15:55612174-55612442	GM12878	blood:	n/a	n/a
18	BRCA1	chr15:55610928-55612351	Hela-S3	cervix:	n/a	n/a
19	TBP	chr15:55610886-55612533	K562	blood:	n/a	n/a
20	POLR2A	chr15:55610839-55612679	GM12891	blood:	n/a	n/a
21	EP300	chr15:55610916-55612912	GM12878	blood:	n/a	chr15:55611342-55611349
22	MYC	chr15:55612097-55612584	NB4	blood:	n/a	n/a
23	ZNF143	chr15:55611090-55612430	K562	blood:	n/a	n/a
24	TBL1XR1	chr15:55610893-55612433	K562	blood:	n/a	n/a
25	RCOR1	chr15:55610932-55612418	K562	blood:	n/a	n/a
26	POLR2A	chr15:55610859-55612548	GM12878	blood:	n/a	n/a
27	MYC	chr15:55610374-55612731	K562	blood:	n/a	n/a
28	RUNX3	chr15:55612150-55612735	GM12878	blood:	n/a	chr15:55612615-55612624 chr15:55612615-55612624
29	ATF1	chr15:55612137-55612498	K562	blood:	n/a	n/a
30	RCOR1	chr15:55610951-55612693	K562	blood:	n/a	n/a
31	CREB1	chr15:55611891-55612611	K562	blood:	n/a	n/a
32	POLR2A	chr15:55610943-55612898	GM12878	blood:	n/a	n/a
33	NFYA	chr15:55611797-55612570	K562	blood:	n/a	n/a
34	CEBPB	chr15:55612109-55612454	K562	blood:	n/a	chr15:55612409-55612420
35	POLR2A	chr15:55610765-55612454	HL-60	blood:	n/a	n/a
36	RCOR1	chr15:55610932-55612429	GM12878	blood:	n/a	n/a
37	RFX5	chr15:55611294-55612466	K562	blood:	n/a	n/a
38	EP300	chr15:55611821-55612359	K562	blood:	n/a	n/a
39	RCOR1	chr15:55610898-55612274	Hela-S3	cervix:	n/a	n/a
40	MXI1	chr15:55610640-55612327	SK-N-SH	brain:	n/a	n/a
41	POLR2A	chr15:55612179-55612602	GM12878	blood:	n/a	n/a
42	CREB1	chr15:55612089-55612599	GM12878	blood:	n/a	n/a
43	CHD1	chr15:55610939-55612599	GM12878	blood:	n/a	n/a
44	GATA1	chr15:55610757-55613560	PBDE	blood:	n/a	n/a
45	ZMIZ1	chr15:55610996-55612474	K562	blood:	n/a	n/a
46	POLR2A	chr15:55610899-55612536	K562	blood:	n/a	n/a
47	POLR2A	chr15:55610872-55612616	NB4	blood:	n/a	n/a
48	ZNF143	chr15:55611152-55612448	GM12878	blood:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:55607556..55615100-chr15:55699006..55703115,13	K562	blood:
2	chr15:55579295..55584870-chr15:55607881..55612970,10	K562	blood:
3	chr15:55607682..55613892-chr15:55697623..55703247,7	K562	blood:
4	chr15:55610603..55613441-chr15:55640435..55642887,3	K562	blood:
5	chr1:45097061..45098036-chr15:55611574..55612452,2	NB4	blood:
6	chr11:62606684..62607613-chr15:55611967..55612640,2	Hela-S3	cervix:
7	chr15:52860513..52862699-chr15:55611421..55613423,2	K562	blood:
8	chr15:55611231..55613781-chr15:55650210..55652100,2	MCF-7	breast:
9	chr15:55580259..55584808-chr15:55609765..55612829,5	K562	blood:
10	chr15:55487463..55489378-chr15:55611756..55613530,2	K562	blood:
11	chr15:55601212..55603506-chr15:55611537..55613795,2	MCF-7	breast:
12	chr15:55610027..55612992-chr15:55688713..55692198,3	K562	blood:
13	chr15:55612195..55616185-chr15:55619905..55621792,3	MCF-7	breast:
14	chr15:55608625..55613147-chr15:55698683..55702764,8	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-178D12.1.1-4	chr15:55611832-55612228	NONHSAT043990

No data

Variant related genes	Relation type
RAB27A	TF binding region
ENSG00000225973	TF binding region
ENSG00000260916	Chromatin interaction
ENSG00000261652	Chromatin interaction
ENSG00000069974	Chromatin interaction
ENSG00000137876	Chromatin interaction
ENSG00000187147	Chromatin interaction
ENSG00000069943	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000128989	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1007912	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12591248	0.90[EUR][1000 genomes]
rs12591534	0.92[ASN][1000 genomes]
rs12594039	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12595122	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12595316	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16976260	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16976296	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16976298	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2289323	0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2289324	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2290980	0.90[EUR][1000 genomes]
rs2290981	0.90[EUR][1000 genomes]
rs2414410	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28417106	0.88[AFR][1000 genomes]
rs28544417	0.90[AFR][1000 genomes]
rs28659952	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28806626	0.92[ASN][1000 genomes]
rs2899585	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3759864	0.88[EUR][1000 genomes]
rs55741428	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56849426	0.90[AFR][1000 genomes]
rs58020927	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs59887243	0.94[AFR][1000 genomes]
rs61176773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7165133	0.81[AFR][1000 genomes]
rs7182524	0.90[EUR][1000 genomes]
rs73413697	0.87[AFR][1000 genomes]
rs73415532	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042741	chr15:55068022-55622497	Strong transcription Weak transcription Flanking Active TSS Enhancers 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	31 gene(s)	inside rSNPs	diseases
2	nsv917323	chr15:55290499-56041334	Genic enhancers Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1043789	chr15:55400872-56092454	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv1036924	chr15:55527874-55616480	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1051046	chr15:55529291-55821973	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv1036173	chr15:55547689-55812194	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Genic enhancers 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 miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv542391	chr15:55547689-55812194	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv569523	chr15:55555602-55836704	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
9	nsv569524	chr15:55558624-55612511	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv1040917	chr15:55562940-55943942	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
11	nsv531054	chr15:55571230-55914205	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:55609600-55612400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr15:55610000-55612400	Active TSS	A549	lung
3	chr15:55610000-55613200	Active TSS	GM12878-XiMat	blood
4	chr15:55610200-55612600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr15:55610200-55612800	Active TSS	HMEC	breast
6	chr15:55610200-55613400	Active TSS	K562	blood
7	chr15:55610400-55612400	Active TSS	Brain Anterior Caudate	brain
8	chr15:55610400-55612400	Active TSS	Skeletal Muscle Female	skeletal muscle
9	chr15:55610400-55612600	Active TSS	Stomach Smooth Muscle	stomach
10	chr15:55610400-55612800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr15:55610600-55612400	Active TSS	Brain Hippocampus Middle	brain
12	chr15:55610600-55612400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr15:55610600-55612400	Active TSS	Brain Substantia Nigra	brain
14	chr15:55610600-55612600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr15:55610600-55612600	Active TSS	HUES64 Cell Line	embryonic stem cell
16	chr15:55610600-55612600	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr15:55610600-55612600	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr15:55610600-55612600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr15:55610800-55612400	Active TSS	Fetal Lung	lung
20	chr15:55610800-55612600	Active TSS	Aorta	Aorta
21	chr15:55611000-55612600	Active TSS	Primary T cells fromperipheralblood	blood
22	chr15:55611400-55612600	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr15:55611600-55612400	Flanking Active TSS	Primary B cells from peripheral blood	blood
24	chr15:55611600-55612400	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr15:55611600-55612400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr15:55611600-55612600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr15:55611600-55612600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr15:55611600-55612600	Flanking Active TSS	NH-A	brain
29	chr15:55611600-55612800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr15:55611600-55612800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr15:55611600-55613200	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr15:55611800-55612400	Enhancers	Placenta	Placenta
33	chr15:55611800-55612400	Weak transcription	Stomach Mucosa	stomach
34	chr15:55611800-55612400	Flanking Active TSS	HUVEC	blood vessel
35	chr15:55611800-55612600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr15:55611800-55612600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
37	chr15:55611800-55612600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr15:55611800-55612600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr15:55611800-55612600	Enhancers	Fetal Stomach	stomach
40	chr15:55611800-55612600	Flanking Active TSS	Hela-S3	cervix
41	chr15:55611800-55612600	Flanking Active TSS	Osteobl	bone
42	chr15:55611800-55612800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr15:55611800-55612800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr15:55611800-55612800	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr15:55611800-55612800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr15:55611800-55612800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr15:55611800-55612800	Flanking Active TSS	Duodenum Mucosa	Duodenum
48	chr15:55611800-55612800	Flanking Active TSS	Dnd41	blood
49	chr15:55611800-55616200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
50	chr15:55611800-55622400	Weak transcription	Left Ventricle	heart

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