Variant report

Variant	rs60237220
Chromosome Location	chr15:41218500-41218501
allele	C/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	USF1	chr15:41218082-41218541	H1-hESC	embryonic stem cell:	n/a	chr15:41218384-41218400
2	E2F6	chr15:41218187-41218651	K562	blood:	n/a	n/a
3	MAX	chr15:41217701-41219252	H1-hESC	embryonic stem cell:	n/a	chr15:41218367-41218374 chr15:41218366-41218375 chr15:41217786-41217795 chr15:41218366-41218376
4	MYC	chr15:41218247-41218509	K562	blood:	n/a	chr15:41218367-41218374 chr15:41218366-41218375 chr15:41218366-41218376
5	E2F6	chr15:41218159-41218700	K562	blood:	n/a	n/a
6	TCF12	chr15:41217963-41218822	ECC-1	luminal epithelium:	n/a	chr15:41218437-41218447
7	ELF1	chr15:41218457-41218704	K562	blood:	n/a	n/a
8	ZBTB7A	chr15:41218283-41218524	K562	blood:	n/a	n/a
9	POLR2A	chr15:41217822-41218588	H1-neurons	neurons:	n/a	n/a
10	USF1	chr15:41218106-41218617	ECC-1	luminal epithelium:	n/a	chr15:41218384-41218400
11	ZBTB7A	chr15:41218056-41219063	ECC-1	luminal epithelium:	n/a	n/a
12	NFIC	chr15:41217982-41218548	ECC-1	luminal epithelium:	n/a	n/a
13	MAX	chr15:41218082-41218543	SK-N-SH	brain:	n/a	chr15:41218367-41218374 chr15:41218366-41218375 chr15:41218366-41218376
14	SIN3A	chr15:41218066-41219306	H1-hESC	embryonic stem cell:	n/a	chr15:41218583-41218596 chr15:41218238-41218249
15	CTBP2	chr15:41217757-41219438	H1-hESC	embryonic stem cell:	n/a	n/a
16	MAX	chr15:41217965-41218812	ECC-1	luminal epithelium:	n/a	chr15:41218367-41218374 chr15:41218366-41218375 chr15:41218366-41218376
17	SUZ12	chr15:41217454-41220663	NT2-D1	testis:	n/a	n/a
18	MXI1	chr15:41217921-41218772	SK-N-SH	brain:	n/a	n/a
19	CTCF	chr15:41218500-41218650	GM12868	blood:	n/a	n/a
20	MAX	chr15:41218067-41218784	K562	blood:	n/a	chr15:41218367-41218374 chr15:41218366-41218375 chr15:41218366-41218376
21	MAX	chr15:41217921-41218791	ECC-1	luminal epithelium:	n/a	chr15:41218367-41218374 chr15:41218366-41218375 chr15:41218366-41218376
22	GABPA	chr15:41218068-41219045	H1-hESC	embryonic stem cell:	n/a	chr15:41218215-41218224 chr15:41218585-41218599
23	E2F6	chr15:41217599-41219070	H1-hESC	embryonic stem cell:	n/a	chr15:41217728-41217735 chr15:41218992-41219002 chr15:41217806-41217821 chr15:41217893-41217905 chr15:41217728-41217735 chr15:41217728-41217735 chr15:41217831-41217841
24	USF1	chr15:41218068-41218557	ECC-1	luminal epithelium:	n/a	chr15:41218384-41218400
25	MAX	chr15:41217954-41218958	H1-hESC	embryonic stem cell:	n/a	chr15:41218367-41218374 chr15:41218366-41218375 chr15:41218366-41218376
26	E2F6	chr15:41217600-41219063	H1-hESC	embryonic stem cell:	n/a	chr15:41217728-41217735 chr15:41218992-41219002 chr15:41217806-41217821 chr15:41217893-41217905 chr15:41217728-41217735 chr15:41217728-41217735 chr15:41217831-41217841
27	POLR2A	chr15:41218001-41218683	SK-N-MC	brain:	n/a	n/a
28	POLR2A	chr15:41217779-41218631	H1-neurons	neurons:	n/a	n/a
29	MAZ	chr15:41218454-41218647	GM12878	blood:	n/a	n/a
30	BHLHE40	chr15:41218251-41218533	GM12878	blood:	n/a	chr15:41218384-41218400
31	RUNX3	chr15:41218272-41218744	GM12878	blood:	n/a	n/a
32	SUZ12	chr15:41218454-41219874	H1-hESC	embryonic stem cell:	n/a	n/a
33	MAX	chr15:41218005-41218569	SK-N-SH	brain:	n/a	chr15:41218367-41218374 chr15:41218366-41218375 chr15:41218366-41218376
34	GABPA	chr15:41217943-41218676	H1-hESC	embryonic stem cell:	n/a	chr15:41218215-41218224 chr15:41218585-41218599

No.	Distal block	Cell Line	Cell type
1	chr15:41218005..41219513-chr15:41219535..41222205,2	MCF-7	breast:
2	chr15:41185065..41188307-chr15:41217955..41221717,3	MCF-7	breast:
3	chr15:41193987..41204234-chr15:41215915..41223506,12	K562	blood:
4	chr15:41216485..41219267-chr15:41244512..41247171,2	K562	blood:
5	chr15:41216351..41218911-chr15:41231824..41234826,3	MCF-7	breast:
6	chr15:41197462..41204234-chr15:41215803..41223321,13	K562	blood:
7	chr15:41216845..41219017-chr15:41248901..41250858,2	K562	blood:

Variant related genes	Relation type
DLL4	TF binding region
ENSG00000104142	Chromatin interaction
ENSG00000128965	Chromatin interaction
ENSG00000128917	Chromatin interaction
ENSG00000251161	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12591675	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16971223	0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28434362	0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3212278	0.90[EUR][1000 genomes]
rs4923888	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4924515	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6492971	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7164358	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv904103	chr15:41123172-41275014	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv904104	chr15:41149824-41234932	Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
5	nsv904105	chr15:41149824-41275014	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription 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	57 gene(s)	inside rSNPs	diseases
6	esv1819792	chr15:41184722-41234825	Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41217200-41220000	Bivalent Enhancer	Placenta	Placenta
2	chr15:41217400-41218600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
3	chr15:41217400-41218600	Enhancers	Rectal Mucosa Donor 31	rectum
4	chr15:41217400-41219400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr15:41217400-41219400	Bivalent Enhancer	Fetal Thymus	thymus
6	chr15:41217400-41220000	Bivalent Enhancer	Primary hematopoietic stem cells	blood
7	chr15:41217400-41221200	Bivalent Enhancer	Fetal Lung	lung
8	chr15:41217600-41218600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr15:41217600-41218600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr15:41217600-41218600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr15:41217600-41219000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr15:41217600-41219000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
13	chr15:41217600-41219000	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
14	chr15:41217600-41219400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr15:41217600-41219600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr15:41217600-41220000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
17	chr15:41217600-41221000	Bivalent Enhancer	Fetal Brain Male	brain
18	chr15:41217600-41223200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr15:41217800-41218600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr15:41217800-41218600	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr15:41217800-41218800	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr15:41217800-41218800	Bivalent Enhancer	Spleen	Spleen
23	chr15:41217800-41219000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr15:41217800-41219000	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
25	chr15:41217800-41219200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
26	chr15:41217800-41219200	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
27	chr15:41217800-41219200	Enhancers	Fetal Heart	heart
28	chr15:41217800-41219200	Bivalent Enhancer	Psoas Muscle	Psoas
29	chr15:41217800-41219400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr15:41217800-41219400	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
31	chr15:41217800-41219400	Enhancers	Brain Substantia Nigra	brain
32	chr15:41217800-41220200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
33	chr15:41217800-41220200	Enhancers	Lung	lung
34	chr15:41217800-41220200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
35	chr15:41217800-41220800	Enhancers	Liver	Liver
36	chr15:41217800-41220800	Enhancers	Pancreas	Pancrea
37	chr15:41217800-41221800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
38	chr15:41218000-41218600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr15:41218000-41218600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr15:41218000-41218600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
41	chr15:41218000-41218600	Active TSS	Brain Cingulate Gyrus	brain
42	chr15:41218000-41218600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
43	chr15:41218000-41218600	Flanking Bivalent TSS/Enh	Dnd41	blood
44	chr15:41218000-41218800	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr15:41218000-41218800	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr15:41218000-41218800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
47	chr15:41218000-41218800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
48	chr15:41218000-41218800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr15:41218000-41218800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr15:41218000-41218800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin

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