Variant report

Variant	rs74011381
Chromosome Location	chr15:45459971-45459972
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:47)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:47 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr15:45459530-45460091	MCF-7	breast:	n/a	n/a
2	CTCF	chr15:45459550-45460030	MCF-7	breast:	n/a	n/a
3	ZNF143	chr15:45459027-45459978	GM12878	blood:	n/a	chr15:45459156-45459166
4	CTCF	chr15:45459302-45460007	K562	blood:	n/a	n/a
5	MAX	chr15:45458696-45459980	HepG2	liver:	n/a	chr15:45459166-45459182
6	POLR2A	chr15:45458586-45459995	Hela-S3	cervix:	n/a	n/a
7	CREB1	chr15:45458622-45459982	HepG2	liver:	n/a	n/a
8	MAZ	chr15:45458538-45460756	IMR90	lung:	n/a	chr15:45459166-45459182 chr15:45460742-45460751
9	HCFC1	chr15:45458524-45460283	Hela-S3	cervix:	n/a	n/a
10	RCOR1	chr15:45458937-45459981	K562	blood:	n/a	n/a
11	GTF2F1	chr15:45459262-45460040	K562	blood:	n/a	n/a
12	EBF1	chr15:45459513-45460101	GM12878	blood:	n/a	chr15:45459905-45459916 chr15:45459925-45459936
13	ZC3H11A	chr15:45459556-45460031	K562	blood:	n/a	n/a
14	MAX	chr15:45458565-45459979	A549	lung:	n/a	chr15:45459166-45459182
15	PML	chr15:45458696-45460011	GM12878	blood:	n/a	n/a
16	CHD2	chr15:45458807-45459983	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr15:45458909-45460039	A549	lung:	n/a	n/a
18	POLR2A	chr15:45458497-45459996	H1-hESC	embryonic stem cell:	n/a	n/a
19	NR2F2	chr15:45459504-45459978	K562	blood:	n/a	n/a
20	CTCF	chr15:45459569-45460011	MCF-7	breast:	n/a	n/a
21	REST	chr15:45458638-45460070	H1-neurons	neurons:	n/a	chr15:45459193-45459203
22	MTA3	chr15:45458551-45460161	GM12878	blood:	n/a	n/a
23	SIN3AK20	chr15:45458918-45460059	MCF-7	breast:	n/a	n/a
24	POLR2A	chr15:45458554-45459972	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr15:45458984-45460048	K562	blood:	n/a	n/a
26	POLR2A	chr15:45456690-45460622	HepG2	liver:	n/a	n/a
27	RAD21	chr15:45459449-45460009	H1-hESC	embryonic stem cell:	n/a	n/a
28	TCF7L2	chr15:45459124-45460210	Hela-S3	cervix:	n/a	n/a
29	SP1	chr15:45459367-45459971	H1-hESC	embryonic stem cell:	n/a	chr15:45459626-45459637
30	CREB1	chr15:45458956-45459981	GM12878	blood:	n/a	n/a
31	POLR2A	chr15:45457893-45460098	GM12878	blood:	n/a	n/a
32	CTCF	chr15:45458854-45460599	SK-N-SH	brain:	n/a	n/a
33	SPI1	chr15:45459401-45459982	HL-60	blood:	n/a	n/a
34	NR2F2	chr15:45459545-45460054	K562	blood:	n/a	n/a
35	CHD2	chr15:45458726-45459992	K562	blood:	n/a	n/a
36	RAD21	chr15:45459539-45459978	ECC-1	luminal epithelium:	n/a	n/a
37	CTBP2	chr15:45458764-45459988	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr15:45458953-45460021	SK-N-MC	brain:	n/a	n/a
39	POLR2A	chr15:45458522-45459988	GM12892	blood:	n/a	n/a
40	NR2F2	chr15:45459412-45460161	MCF-7	breast:	n/a	n/a
41	CTCF	chr15:45459840-45459990	A549	lung:	n/a	n/a
42	POLR2A	chr15:45458260-45460034	K562	blood:	n/a	n/a
43	CTCF	chr15:45459400-45460076	HCT-116	colon:	n/a	n/a
44	ZBTB7A	chr15:45458954-45460067	ECC-1	luminal epithelium:	n/a	chr15:45458967-45458978
45	ELF1	chr15:45458927-45459977	GM12878	blood:	n/a	chr15:45459154-45459163 chr15:45459120-45459132
46	POLR2A	chr15:45458525-45460087	HepG2	liver:	n/a	n/a
47	POLR2A	chr15:45458508-45459986	GM12892	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr15:45459427..45462384-chr15:45693635..45696116,3	K562	blood:
2	chr15:45457899..45460285-chr15:45489261..45492223,4	MCF-7	breast:
3	chr15:45459774..45461695-chr15:45467150..45468709,2	K562	blood:
4	chr15:45458146..45462463-chr15:45465556..45468797,6	MCF-7	breast:
5	chr15:45458222..45460718-chr15:45477355..45481212,4	K562	blood:
6	chr15:45459519..45461778-chr15:45469004..45470564,2	K562	blood:
7	chr15:45458776..45462841-chr15:45467209..45473486,10	K562	blood:
8	chr15:45457275..45460718-chr15:45477484..45481344,4	K562	blood:
9	chr15:45459071..45462844-chr15:45693635..45696532,4	K562	blood:
10	chr15:45458639..45462602-chr15:45463163..45466877,10	K562	blood:
11	chr15:45457925..45460364-chr15:45492288..45495049,4	MCF-7	breast:
12	chr12:49245617..49246517-chr15:45459356..45460000,2	Hela-S3	cervix:
13	chr15:45458639..45463256-chr15:45489443..45493548,9	K562	blood:
14	chr15:45458882..45460694-chr15:45692968..45695992,3	MCF-7	breast:
15	chr15:45444706..45447350-chr15:45459510..45461724,2	K562	blood:
16	chr1:151254368..151255147-chr15:45459225..45460088,2	Hela-S3	cervix:
17	chr15:45457999..45463256-chr15:45488727..45493013,8	K562	blood:
18	chr15:45458782..45460452-chr15:45469150..45471146,2	MCF-7	breast:
19	chr15:45457736..45460170-chr15:45478587..45480947,2	MCF-7	breast:
20	chr15:45457610..45461525-chr15:45477333..45480560,5	MCF-7	breast:
21	chr15:45457346..45461990-chr15:45488766..45494297,11	MCF-7	breast:
22	chr15:45458064..45460777-chr15:45570184..45573179,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259519	TF binding region
ENSG00000259539	TF binding region
ENSG00000143373	Chromatin interaction
ENSG00000259520	Chromatin interaction
ENSG00000260035	Chromatin interaction
ENSG00000138606	Chromatin interaction
ENSG00000174243	Chromatin interaction
ENSG00000171763	Chromatin interaction
ENSG00000259932	Chromatin interaction
ENSG00000232671	Chromatin interaction
ENSG00000137857	Chromatin interaction
ENSG00000171766	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10083684	0.87[EUR][1000 genomes]
rs1648306	0.81[EUR][1000 genomes]
rs16940351	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1706816	0.81[EUR][1000 genomes]
rs1706818	0.80[EUR][1000 genomes]
rs56294809	0.84[EUR][1000 genomes]
rs57805764	0.84[AMR][1000 genomes]
rs58547297	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59368522	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60209237	0.86[AMR][1000 genomes]
rs74011376	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs74011378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74011382	0.84[EUR][1000 genomes]
rs74011388	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[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	nsv916374	chr15:45058112-45769052	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer 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	104 gene(s)	inside rSNPs	diseases
2	nsv932147	chr15:45319178-45872076	Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv427961	chr15:45338381-45491634	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv457124	chr15:45381998-45460422	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv569312	chr15:45381998-45460422	Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv1823029	chr15:45387102-45482245	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv869616	chr15:45401411-45736209	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
8	nsv518213	chr15:45421758-45464768	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
9	nsv904187	chr15:45438537-45507738	Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv569315	chr15:45446156-45772448	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
11	esv3323980	chr15:45458085-45460633	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45458400-45460000	Active TSS	H1 Cell Line	embryonic stem cell
2	chr15:45458400-45460000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr15:45458400-45460200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr15:45458400-45460200	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr15:45458600-45460000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr15:45458600-45460000	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr15:45458600-45460000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr15:45458600-45460000	Active TSS	Primary neutrophils fromperipheralblood	blood
9	chr15:45458600-45460000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr15:45458600-45460000	Active TSS	Brain Cingulate Gyrus	brain
11	chr15:45458600-45460000	Active TSS	Esophagus	oesophagus
12	chr15:45458600-45460000	Active TSS	Fetal Kidney	kidney
13	chr15:45458600-45460000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr15:45458600-45460000	Active TSS	Psoas Muscle	Psoas
15	chr15:45458600-45460000	Active TSS	Right Atrium	heart
16	chr15:45458600-45460000	Active TSS	HSMM	muscle
17	chr15:45458600-45460000	Active TSS	Osteobl	bone
18	chr15:45458600-45460200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr15:45458600-45460200	Active TSS	Brain Angular Gyrus	brain
20	chr15:45458600-45460200	Active TSS	Colonic Mucosa	Colon
21	chr15:45458800-45460000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr15:45458800-45460000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr15:45458800-45460000	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr15:45458800-45460000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
25	chr15:45458800-45460000	Active TSS	Primary T helper naive cells from peripheral blood	blood
26	chr15:45458800-45460000	Active TSS	Brain Hippocampus Middle	brain
27	chr15:45458800-45460000	Active TSS	Thymus	Thymus
28	chr15:45458800-45460000	Active TSS	GM12878-XiMat	blood
29	chr15:45458800-45460200	Active TSS	HepG2	liver
30	chr15:45458800-45460600	Active TSS	Duodenum Mucosa	Duodenum
31	chr15:45459000-45460000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr15:45459000-45460000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr15:45459000-45460000	Active TSS	Stomach Mucosa	stomach
34	chr15:45459000-45460200	Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr15:45459000-45460200	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr15:45459000-45460200	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr15:45459000-45460200	Active TSS	NH-A	brain
38	chr15:45459200-45460000	Active TSS	Primary B cells from cord blood	blood
39	chr15:45459200-45460000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr15:45459200-45460200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr15:45459400-45460000	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr15:45459600-45460000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr15:45459600-45460000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr15:45459600-45460000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr15:45459600-45460000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
46	chr15:45459600-45460000	Flanking Active TSS	Fetal Brain Male	brain
47	chr15:45459600-45460000	Enhancers	Fetal Heart	heart
48	chr15:45459600-45460000	Flanking Active TSS	Fetal Lung	lung
49	chr15:45459600-45460000	Flanking Active TSS	Placenta	Placenta
50	chr15:45459600-45460000	Flanking Active TSS	Fetal Stomach	stomach

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