Variant report

Variant	rs3809505
Chromosome Location	chr15:72411145-72411146
allele	G/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	MAX	chr15:72409374-72411234	SK-N-SH	brain:	n/a	chr15:72410049-72410059 chr15:72409969-72409978 chr15:72410199-72410209
2	BHLHE40	chr15:72409919-72411204	HepG2	liver:	n/a	chr15:72410549-72410558 chr15:72410549-72410558 chr15:72410547-72410560 chr15:72410517-72410533 chr15:72410550-72410559
3	EGR1	chr15:72409936-72411176	HCT-116	colon:	n/a	chr15:72410541-72410554 chr15:72410854-72410869 chr15:72410949-72410958 chr15:72410541-72410554 chr15:72410542-72410553 chr15:72410579-72410588 chr15:72410541-72410551 chr15:72410542-72410552 chr15:72410491-72410513 chr15:72410540-72410554 chr15:72410541-72410554 chr15:72410540-72410555 chr15:72410542-72410551 chr15:72410536-72410558 chr15:72410542-72410552 chr15:72410482-72410491 chr15:72410495-72410509 chr15:72410541-72410554
4	POLR2A	chr15:72409889-72411209	K562	blood:	n/a	n/a
5	EP300	chr15:72410209-72411164	GM12878	blood:	n/a	n/a
6	STAT5A	chr15:72410617-72411195	GM12878	blood:	n/a	n/a
7	CREB1	chr15:72409846-72411177	GM12878	blood:	n/a	n/a
8	POLR2A	chr15:72409428-72411734	GM18505	blood:	n/a	n/a
9	POLR2A	chr15:72409716-72411227	GM15510	blood:	n/a	n/a
10	POLR2A	chr15:72409710-72411307	PFSK-1	brain:	n/a	n/a
11	RUNX3	chr15:72409931-72411613	GM12878	blood:	n/a	n/a
12	MAFK	chr15:72410642-72411224	HepG2	liver:	n/a	chr15:72411081-72411092 chr15:72411081-72411092
13	NFIC	chr15:72410575-72411161	HepG2	liver:	n/a	n/a
14	MTA3	chr15:72410422-72411700	GM12878	blood:	n/a	n/a
15	CREB1	chr15:72409753-72411145	A549	lung:	n/a	n/a
16	CUX1	chr15:72410665-72411297	K562	blood:	n/a	n/a
17	HEY1	chr15:72410152-72411156	HepG2	liver:	n/a	chr15:72410181-72410196
18	RUNX3	chr15:72409788-72411479	GM12878	blood:	n/a	n/a
19	POLR2A	chr15:72409709-72411306	SK-N-SH	brain:	n/a	n/a
20	YY1	chr15:72410145-72411175	GM12878	blood:	n/a	chr15:72410184-72410195 chr15:72410612-72410626 chr15:72410186-72410195 chr15:72410390-72410399
21	POLR2A	chr15:72409505-72411176	HEK293	kidney:	n/a	n/a
22	NFIC	chr15:72410536-72411339	GM12878	blood:	n/a	n/a
23	POLR2A	chr15:72410518-72411191	GM12891	blood:	n/a	n/a
24	POLR2A	chr15:72409526-72411208	GM12878	blood:	n/a	n/a
25	SIN3AK20	chr15:72409619-72411384	MCF-7	breast:	n/a	n/a
26	MAZ	chr15:72409219-72411349	K562	blood:	n/a	chr15:72410049-72410059 chr15:72409969-72409978 chr15:72410199-72410209
27	SIN3A	chr15:72409052-72411440	H1-hESC	embryonic stem cell:	n/a	chr15:72409994-72410005
28	TEAD4	chr15:72410422-72411152	K562	blood:	n/a	n/a
29	TAF1	chr15:72409700-72411206	SK-N-SH	brain:	n/a	n/a
30	MAX	chr15:72409024-72411544	NB4	blood:	n/a	chr15:72410049-72410059 chr15:72409969-72409978 chr15:72409091-72409099 chr15:72410199-72410209
31	MAX	chr15:72409819-72411253	MCF-7	breast:	n/a	chr15:72410049-72410059 chr15:72409969-72409978 chr15:72410199-72410209
32	POLR2A	chr15:72409466-72411283	MCF10A-Er-Src	breast:	n/a	n/a
33	HDAC2	chr15:72410014-72411234	MCF-7	breast:	n/a	chr15:72410483-72410492 chr15:72410630-72410644
34	IRF1	chr15:72410297-72411196	K562	blood:	n/a	chr15:72410928-72410942 chr15:72410616-72410630 chr15:72410526-72410540 chr15:72410741-72410752 chr15:72410536-72410550 chr15:72410587-72410601 chr15:72410982-72410996
35	SIN3AK20	chr15:72409470-72411225	SK-N-SH	brain:	n/a	n/a
36	IRF1	chr15:72410311-72411195	K562	blood:	n/a	chr15:72410928-72410942 chr15:72410616-72410630 chr15:72410526-72410540 chr15:72410741-72410752 chr15:72410536-72410550 chr15:72410587-72410601 chr15:72410982-72410996
37	YY1	chr15:72410577-72411159	GM12878	blood:	n/a	chr15:72410612-72410626
38	POLR2A	chr15:72409796-72412176	HepG2	liver:	n/a	n/a
39	MAZ	chr15:72409435-72411145	Hela-S3	cervix:	n/a	chr15:72410049-72410059 chr15:72409969-72409978 chr15:72410199-72410209
40	POLR2A	chr15:72409960-72411499	HL-60	blood:	n/a	n/a
41	SIN3AK20	chr15:72409993-72411197	K562	blood:	n/a	n/a
42	POLR2A	chr15:72409594-72411208	U87	brain:	n/a	n/a
43	POLR2A	chr15:72409603-72411292	ProgFib	skin:	n/a	n/a
44	MAZ	chr15:72409513-72411500	GM12878	blood:	n/a	chr15:72410049-72410059 chr15:72409969-72409978 chr15:72410199-72410209
45	CHD2	chr15:72410790-72411214	K562	blood:	n/a	n/a
46	POLR2A	chr15:72409601-72411208	U87	brain:	n/a	n/a
47	NFYA	chr15:72410439-72411255	Hela-S3	cervix:	n/a	n/a
48	POLR2A	chr15:72409658-72411147	HUVEC	blood vessel:	n/a	n/a
49	MAX	chr15:72409769-72411235	K562	blood:	n/a	chr15:72410049-72410059 chr15:72409969-72409978 chr15:72410199-72410209
50	EGR1	chr15:72410167-72411148	K562	blood:	n/a	chr15:72410541-72410554 chr15:72410854-72410869 chr15:72410949-72410958 chr15:72410541-72410554 chr15:72410542-72410553 chr15:72410579-72410588 chr15:72410541-72410551 chr15:72410542-72410552 chr15:72410491-72410513 chr15:72410540-72410554 chr15:72410541-72410554 chr15:72410540-72410555 chr15:72410542-72410551 chr15:72410536-72410558 chr15:72410542-72410552 chr15:72410482-72410491 chr15:72410495-72410509 chr15:72410541-72410554

No.	Distal block	Cell Line	Cell type
1	chr15:72409625..72411643-chr15:72517695..72521104,3	MCF-7	breast:
2	chr15:72410325..72411243-chr18:47340312..47341100,2	Hela-S3	cervix:
3	chr15:72410541..72411177-chr9:86571005..86571803,2	Hela-S3	cervix:
4	chr15:72410388..72414346-chr15:72462434..72466396,3	K562	blood:
5	chr12:56472852..56474352-chr15:72409607..72411955,2	MCF-7	breast:
6	chr15:72409540..72412383-chr15:72425883..72429173,3	MCF-7	breast:
7	chr15:72410384..72411186-chr17:33570009..33570536,2	Hela-S3	cervix:
8	chr15:72409322..72412006-chr15:72563414..72566011,3	MCF-7	breast:

Variant related genes	Relation type
MYO9A	TF binding region
ENSG00000065361	Chromatin interaction
ENSG00000243568	Chromatin interaction
ENSG00000252139	Chromatin interaction
ENSG00000137817	Chromatin interaction
ENSG00000251992	Chromatin interaction
ENSG00000165118	Chromatin interaction
ENSG00000175318	Chromatin interaction
ENSG00000067225	Chromatin interaction
ENSG00000166750	Chromatin interaction
ENSG00000167315	Chromatin interaction
ENSG00000267322	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs11072341	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11072343	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11072344	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1120002	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12437582	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12438532	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12439689	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12440204	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12440299	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12441246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12441470	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12441567	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12441622	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12442680	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12443127	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12592615	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12592858	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12592932	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12592969	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12593082	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12593857	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12593946	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12594297	0.81[EUR][1000 genomes]
rs1545825	0.88[ASN][1000 genomes]
rs16953770	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs16956539	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16956599	1.00[AFR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16956602	0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1871834	0.85[ASN][1000 genomes]
rs1979459	0.80[ASN][1000 genomes]
rs2305705	0.98[ASN][1000 genomes]
rs28397923	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28639924	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28653163	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28701834	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2929514	0.82[ASN][1000 genomes]
rs2929515	0.82[ASN][1000 genomes]
rs2929521	0.88[ASN][1000 genomes]
rs2929522	0.88[ASN][1000 genomes]
rs2929524	0.82[ASN][1000 genomes]
rs2929530	0.86[ASN][1000 genomes]
rs2929533	0.85[ASN][1000 genomes]
rs2957369	0.88[ASN][1000 genomes]
rs2957729	0.82[ASN][1000 genomes]
rs2957730	0.82[ASN][1000 genomes]
rs2957733	0.82[ASN][1000 genomes]
rs2957741	0.88[ASN][1000 genomes]
rs2957747	0.88[ASN][1000 genomes]
rs2957749	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34625473	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35773391	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3825869	0.88[ASN][1000 genomes]
rs4511484	0.88[ASN][1000 genomes]
rs7164646	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7171446	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7175907	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7177067	0.83[AFR][1000 genomes]
rs7178613	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7178876	0.87[AFR][1000 genomes]
rs8026894	0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8029218	0.97[AFR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8032957	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8039245	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8182066	0.80[ASN][1000 genomes]
rs9920148	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3331306	chr15:72049818-72427559	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv3433206	chr15:72049838-72427529	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1042740	chr15:72128799-72482239	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv542426	chr15:72128799-72482239	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv431395	chr15:72266174-72701777	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
6	nsv833051	chr15:72315471-72508429	Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv530817	chr15:72350885-72773374	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
8	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription 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	172 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72407800-72411800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr15:72407800-72412400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr15:72408000-72411200	Active TSS	Fetal Kidney	kidney
4	chr15:72408200-72411600	Active TSS	Brain Angular Gyrus	brain
5	chr15:72408200-72411600	Active TSS	Fetal Muscle Leg	muscle
6	chr15:72408400-72411200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:72408400-72411200	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr15:72408400-72411200	Active TSS	Fetal Lung	lung
9	chr15:72408400-72411400	Active TSS	Aorta	Aorta
10	chr15:72408400-72411600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr15:72408400-72411800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr15:72408400-72411800	Active TSS	NHDF-Ad	bronchial
13	chr15:72408600-72411200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr15:72408600-72411200	Active TSS	Breast Myoepithelial Primary Cells	Breast
15	chr15:72408600-72411200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:72408600-72411200	Active TSS	Fetal Intestine Large	intestine
17	chr15:72408600-72411600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr15:72408600-72411600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr15:72408600-72411600	Active TSS	HSMMtube	muscle
20	chr15:72408600-72411800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr15:72408600-72411800	Active TSS	NHLF	lung
22	chr15:72408800-72411200	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr15:72408800-72411200	Active TSS	Colon Smooth Muscle	Colon
24	chr15:72408800-72411200	Active TSS	Lung	lung
25	chr15:72408800-72411200	Active TSS	Placenta Amnion	Placenta Amnion
26	chr15:72408800-72411400	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr15:72408800-72411400	Active TSS	Fetal Intestine Small	intestine
28	chr15:72408800-72411400	Active TSS	Ovary	ovary
29	chr15:72408800-72411600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr15:72408800-72411600	Active TSS	Brain Anterior Caudate	brain
31	chr15:72408800-72411600	Active TSS	Fetal Muscle Trunk	muscle
32	chr15:72408800-72411600	Active TSS	Psoas Muscle	Psoas
33	chr15:72408800-72411600	Active TSS	Right Ventricle	heart
34	chr15:72408800-72411800	Active TSS	Muscle Satellite Cultured Cells	--
35	chr15:72408800-72412800	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr15:72409000-72411200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr15:72409000-72411200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr15:72409000-72411200	Active TSS	Brain Hippocampus Middle	brain
39	chr15:72409000-72411400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr15:72409000-72411400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr15:72409000-72411400	Active TSS	Esophagus	oesophagus
42	chr15:72409000-72411600	Active TSS	H9 Cell Line	embryonic stem cell
43	chr15:72409000-72411600	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr15:72409000-72411600	Active TSS	Left Ventricle	heart
45	chr15:72409000-72411600	Active TSS	HSMM	muscle
46	chr15:72409000-72411800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr15:72409000-72411800	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr15:72409200-72411200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr15:72409200-72411200	Active TSS	Rectal Smooth Muscle	rectum
50	chr15:72409200-72411200	Active TSS	HMEC	breast

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