Variant report

Variant	rs12593528
Chromosome Location	chr15:74289121-74289122
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFYB	chr15:74289064-74289670	GM12878	blood:	n/a	n/a
2	POLR2A	chr15:74286936-74291631	K562	blood:	n/a	n/a
3	MAFF	chr15:74288905-74289158	HepG2	liver:	n/a	chr15:74289006-74289024
4	CEBPB	chr15:74289096-74289422	K562	blood:	n/a	n/a
5	CTCF	chr15:74289100-74289250	BJ	skin:	n/a	n/a
6	MAFK	chr15:74288870-74289179	IMR90	lung:	n/a	n/a
7	MAFK	chr15:74288869-74289159	HepG2	liver:	n/a	n/a
8	GATA1	chr15:74287476-74289215	PBDE	blood:	n/a	n/a
9	MAFK	chr15:74288912-74289146	K562	blood:	n/a	n/a
10	MAFF	chr15:74288899-74289121	K562	blood:	n/a	chr15:74289006-74289024
11	POLR2A	chr15:74289072-74289128	K562	blood:	n/a	n/a
12	CTCF	chr15:74289120-74289270	AG09319	gingival:	n/a	n/a
13	IRF1	chr15:74288413-74289767	K562	blood:	n/a	n/a
14	TAL1	chr15:74288605-74289123	K562	blood:	n/a	n/a
15	CTCF	chr15:74289120-74289270	BJ	skin:	n/a	n/a
16	NFYA	chr15:74288943-74289143	Hela-S3	cervix:	n/a	n/a
17	IRF1	chr15:74288606-74290120	K562	blood:	n/a	n/a
18	CHD1	chr15:74289041-74289241	GM12878	blood:	n/a	n/a
19	CTCF	chr15:74289100-74289250	AG10803	skin:	n/a	n/a
20	CTCF	chr15:74289100-74289250	GM12872	blood:	n/a	n/a
21	CTCF	chr15:74289080-74289230	HCPEpiC	choroid plexus:	n/a	n/a
22	TBP	chr15:74288929-74289647	GM12878	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:74281335..74284539-chr15:74284801..74290369,7	MCF-7	breast:
2	chr15:74286840..74288514-chr15:74288531..74291100,2	MCF-7	breast:

No data

Variant related genes	Relation type
PML	TF binding region
STOML1	TF binding region
ENSG00000140464	Chromatin interaction
ENSG00000067221	Chromatin interaction

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10162627	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1052242	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1052246	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10851866	0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs10851867	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10851868	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11072458	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11072461	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11072462	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11072463	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11072464	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11072465	0.86[AMR][1000 genomes]
rs11072466	0.86[AMR][1000 genomes]
rs11072467	0.86[AMR][1000 genomes]
rs11072469	0.81[AMR][1000 genomes]
rs11633520	0.81[EUR][1000 genomes]
rs11633735	0.88[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs11635930	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11636016	0.81[AMR][1000 genomes]
rs11636065	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11636150	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11854321	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11857498	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12592370	0.86[AMR][1000 genomes]
rs12901603	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12902857	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12902945	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12904213	0.84[AMR][1000 genomes]
rs12908748	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12910581	0.82[AMR][1000 genomes]
rs12911807	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12911984	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12917179	0.82[AMR][1000 genomes]
rs2165242	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs2277599	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2304715	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2304716	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3784561	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3784562	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4287518	0.88[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs4547288	0.93[ASN][1000 genomes]
rs4886820	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4886844	0.84[AMR][1000 genomes]
rs4886845	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4886846	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56194867	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7183908	0.85[ASN][1000 genomes]
rs734854	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs743580	0.90[ASN][1000 genomes]
rs752004	0.90[ASN][1000 genomes]
rs8027327	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8027447	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8027774	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8028557	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8038991	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8039276	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8039404	0.87[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs8043489	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9479	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758387	chr15:74215114-74464916	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv2760040	chr15:74215114-74464916	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv428308	chr15:74215114-74464916	Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv833052	chr15:74250378-74377150	Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74286200-74290000	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr15:74286400-74289400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr15:74286400-74289400	Active TSS	Aorta	Aorta
4	chr15:74286400-74289800	Active TSS	Psoas Muscle	Psoas
5	chr15:74286400-74290200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr15:74286600-74289200	Active TSS	HSMM	muscle
7	chr15:74286600-74289400	Active TSS	Left Ventricle	heart
8	chr15:74286600-74289800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr15:74286600-74289800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr15:74286600-74289800	Active TSS	Right Ventricle	heart
11	chr15:74286600-74290000	Active TSS	Fetal Kidney	kidney
12	chr15:74286600-74290000	Active TSS	Right Atrium	heart
13	chr15:74286600-74290000	Active TSS	NHDF-Ad	bronchial
14	chr15:74286800-74289800	Active TSS	GM12878-XiMat	blood
15	chr15:74286800-74290000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:74286800-74290000	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr15:74287400-74289400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr15:74287400-74290000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
19	chr15:74287400-74290200	Flanking Active TSS	Primary B cells from cord blood	blood
20	chr15:74287400-74290200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr15:74287400-74290200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr15:74287600-74290000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr15:74287600-74290000	Flanking Active TSS	Dnd41	blood
24	chr15:74287800-74289400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr15:74287800-74289600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr15:74287800-74290000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr15:74287800-74290200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr15:74287800-74290200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr15:74288000-74289200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr15:74288000-74289200	Enhancers	Fetal Brain Male	brain
31	chr15:74288000-74289200	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr15:74288000-74290000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr15:74288000-74290000	Weak transcription	Spleen	Spleen
34	chr15:74288000-74290200	Weak transcription	Gastric	stomach
35	chr15:74288000-74290200	Weak transcription	Lung	lung
36	chr15:74288000-74290200	Active TSS	Stomach Smooth Muscle	stomach
37	chr15:74288000-74290200	Enhancers	HepG2	liver
38	chr15:74288000-74290400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr15:74288000-74290400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr15:74288000-74290400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr15:74288000-74290400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
42	chr15:74288000-74290400	Weak transcription	Pancreas	Pancrea
43	chr15:74288200-74289200	Enhancers	Primary B cells from peripheral blood	blood
44	chr15:74288200-74289200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr15:74288200-74289400	Enhancers	Brain Cingulate Gyrus	brain
46	chr15:74288200-74289400	Enhancers	Fetal Lung	lung
47	chr15:74288200-74289600	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr15:74288200-74289600	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr15:74288200-74290000	Active TSS	Brain Inferior Temporal Lobe	brain
50	chr15:74288200-74290000	Enhancers	Stomach Mucosa	stomach

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