Variant report

Variant	rs12442748
Chromosome Location	chr15:93277429-93277430
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:93277128-93277637	MCF-7	breast:	n/a	n/a
2	POLR2A	chr15:93277180-93277507	Gliobla	brain:	n/a	n/a
3	YY1	chr15:93277050-93277567	A549	lung:	n/a	n/a
4	MYC	chr15:93277274-93277496	MCF-7	breast:	n/a	n/a
5	POLR2A	chr15:93277113-93277512	A549	lung:	n/a	n/a
6	POLR2A	chr15:93277110-93277542	A549	lung:	n/a	n/a
7	HCFC1	chr15:93277132-93277641	K562	blood:	n/a	n/a
8	EGR1	chr15:93277347-93277543	K562	blood:	n/a	n/a
9	POLR2A	chr15:93277088-93277625	MCF-7	breast:	n/a	n/a
10	POLR2A	chr15:93277143-93277503	A549	lung:	n/a	n/a
11	POLR2A	chr15:93277130-93277508	MCF-7	breast:	n/a	n/a
12	E2F6	chr15:93277335-93277505	K562	blood:	n/a	n/a
13	POLR2A	chr15:93277348-93277516	GM12878	blood:	n/a	n/a
14	POLR2A	chr15:93277404-93277680	HUVEC	blood vessel:	n/a	n/a
15	CTCF	chr15:93277385-93277474	MCF-7	breast:	n/a	n/a
16	HEY1	chr15:93277162-93277463	K562	blood:	n/a	n/a
17	POLR2A	chr15:93277090-93277568	K562	blood:	n/a	n/a
18	CTCF	chr15:93277400-93277458	Fibrobl	skin:	n/a	n/a
19	YY1	chr15:93277087-93277860	SK-N-SH	brain:	n/a	chr15:93277644-93277658
20	YY1	chr15:93277101-93277576	K562	blood:	n/a	n/a
21	RCOR1	chr15:93276957-93277785	K562	blood:	n/a	n/a
22	ZNF263	chr15:93276982-93277902	HEK293-T-REx	kidney:	n/a	chr15:93277007-93277016
23	YY1	chr15:93277316-93277561	GM12892	blood:	n/a	n/a
24	TCF7L2	chr15:93277213-93277789	PANC-1	pancreas:	n/a	n/a
25	YY1	chr15:93277317-93277516	GM12878	blood:	n/a	n/a
26	HA-E2F1	chr15:93277082-93277824	MCF-7	breast:	n/a	n/a
27	POLR2A	chr15:93277149-93277578	A549	lung:	n/a	n/a
28	UBTF	chr15:93277333-93277516	K562	blood:	n/a	n/a
29	HEY1	chr15:93277223-93277529	K562	blood:	n/a	n/a
30	ZBTB7A	chr15:93277337-93277535	K562	blood:	n/a	n/a
31	MAX	chr15:93277082-93277984	A549	lung:	n/a	n/a
32	POLR2A	chr15:93277192-93277497	A549	lung:	n/a	n/a
33	MAX	chr15:93277322-93277634	K562	blood:	n/a	n/a
34	YY1	chr15:93277320-93277831	SK-N-SH_RA	brain:	n/a	chr15:93277644-93277658
35	POLR2A	chr15:93277111-93277671	ProgFib	skin:	n/a	n/a
36	YY1	chr15:93277092-93277606	SK-N-SH_RA	brain:	n/a	n/a
37	POLR2A	chr15:93277290-93277520	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr15:93277113-93277435	K562	blood:	n/a	n/a
39	YY1	chr15:93277223-93277563	SK-N-SH	brain:	n/a	n/a
40	YY1	chr15:93277249-93277552	ECC-1	luminal epithelium:	n/a	n/a
41	YY1	chr15:93277183-93277637	K562	blood:	n/a	n/a
42	CTCF	chr15:93277409-93277441	MCF-7	breast:	n/a	n/a
43	UBTF	chr15:93277283-93277481	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:93267015..93268960-chr15:93276120..93278418,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258741	TF binding region
ENSG00000272298	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs11854403	0.84[EUR][1000 genomes]
rs11854426	0.84[EUR][1000 genomes]
rs12441089	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12899027	0.81[EUR][1000 genomes]
rs1545143	0.85[EUR][1000 genomes]
rs1971808	0.83[EUR][1000 genomes]
rs2018744	0.81[EUR][1000 genomes]
rs2387915	0.83[EUR][1000 genomes]
rs34888918	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs34981968	0.85[EUR][1000 genomes]
rs35244027	0.85[EUR][1000 genomes]
rs35770033	0.85[EUR][1000 genomes]
rs4777734	0.83[EUR][1000 genomes]
rs4778034	0.85[EUR][1000 genomes]
rs57030748	0.83[EUR][1000 genomes]
rs58407306	0.84[EUR][1000 genomes]
rs60471977	0.83[EUR][1000 genomes]
rs6496973	0.83[EUR][1000 genomes]
rs6496974	0.83[EUR][1000 genomes]
rs6496975	0.83[EUR][1000 genomes]
rs6496976	0.83[EUR][1000 genomes]
rs6496977	0.81[EUR][1000 genomes]
rs6496978	0.82[EUR][1000 genomes]
rs6496979	0.84[EUR][1000 genomes]
rs6496982	0.85[EUR][1000 genomes]
rs6496985	0.83[EUR][1000 genomes]
rs67971141	0.85[EUR][1000 genomes]
rs71462507	0.84[EUR][1000 genomes]
rs7162983	0.81[EUR][1000 genomes]
rs7166307	0.85[EUR][1000 genomes]
rs7169452	0.83[EUR][1000 genomes]
rs7170733	0.83[EUR][1000 genomes]
rs7174515	0.83[EUR][1000 genomes]
rs7176732	0.82[EUR][1000 genomes]
rs7176911	0.83[EUR][1000 genomes]
rs7176935	0.84[EUR][1000 genomes]
rs7177028	0.84[EUR][1000 genomes]
rs8025793	0.82[EUR][1000 genomes]
rs8028966	0.85[EUR][1000 genomes]
rs8029984	0.83[EUR][1000 genomes]
rs8032004	0.83[EUR][1000 genomes]
rs8033632	0.85[EUR][1000 genomes]
rs8033698	0.82[EUR][1000 genomes]
rs8039858	0.83[EUR][1000 genomes]
rs8041556	0.85[EUR][1000 genomes]
rs8042909	0.85[EUR][1000 genomes]
rs9806135	0.83[EUR][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	nsv904499	chr15:92914795-93472582	Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
2	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
3	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
4	nsv1040501	chr15:93177153-93286393	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93276600-93277800	Active TSS	Fetal Lung	lung
2	chr15:93276600-93278000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr15:93276600-93278000	Active TSS	Brain Anterior Caudate	brain
4	chr15:93276600-93278000	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr15:93276600-93278200	Active TSS	Fetal Kidney	kidney
6	chr15:93276800-93277600	Active TSS	Primary hematopoietic stem cells	blood
7	chr15:93276800-93277600	Active TSS	NH-A	brain
8	chr15:93276800-93277800	Active TSS	Primary T cells from cord blood	blood
9	chr15:93276800-93277800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr15:93276800-93277800	Active TSS	A549	lung
11	chr15:93276800-93278000	Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr15:93276800-93278000	Active TSS	Brain Angular Gyrus	brain
13	chr15:93276800-93278000	Active TSS	Brain Cingulate Gyrus	brain
14	chr15:93276800-93278000	Active TSS	Brain Hippocampus Middle	brain
15	chr15:93276800-93278000	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr15:93276800-93278000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr15:93276800-93278000	Active TSS	Brain Substantia Nigra	brain
18	chr15:93276800-93278000	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr15:93277000-93277600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr15:93277000-93277600	Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr15:93277000-93277600	Active TSS	Liver	Liver
22	chr15:93277000-93277600	Active TSS	Gastric	stomach
23	chr15:93277000-93277600	Active TSS	HMEC	breast
24	chr15:93277000-93277800	Active TSS	H1 Cell Line	embryonic stem cell
25	chr15:93277000-93277800	Active TSS	H9 Cell Line	embryonic stem cell
26	chr15:93277000-93277800	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr15:93277000-93277800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr15:93277000-93277800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr15:93277000-93277800	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr15:93277000-93277800	Active TSS	Primary T helper naive cells from peripheral blood	blood
31	chr15:93277000-93277800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
32	chr15:93277000-93277800	Active TSS	Primary T helper cells PMA-I stimulated	--
33	chr15:93277000-93277800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr15:93277000-93277800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr15:93277000-93277800	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr15:93277000-93277800	Active TSS	Esophagus	oesophagus
37	chr15:93277000-93277800	Active TSS	Fetal Heart	heart
38	chr15:93277000-93277800	Active TSS	Fetal Intestine Small	intestine
39	chr15:93277000-93277800	Active TSS	Left Ventricle	heart
40	chr15:93277000-93277800	Active TSS	Pancreas	Pancrea
41	chr15:93277000-93277800	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr15:93277000-93277800	Active TSS	Right Ventricle	heart
43	chr15:93277000-93277800	Active TSS	Thymus	Thymus
44	chr15:93277000-93278000	Active TSS	ES-I3 Cell Line	embryonic stem cell
45	chr15:93277000-93278000	Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr15:93277000-93278000	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr15:93277000-93278000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr15:93277000-93278000	Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr15:93277000-93278000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr15:93277000-93278000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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