Variant report

Variant	rs45515493
Chromosome Location	chr14:21572642-21572643
allele	C/G
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	MYBL2	chr14:21571143-21573397	HepG2	liver:	n/a	n/a
2	SMC3	chr14:21571415-21573017	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr14:21571669-21572927	H1-hESC	embryonic stem cell:	n/a	n/a
4	BACH1	chr14:21571720-21572928	H1-hESC	embryonic stem cell:	n/a	chr14:21572208-21572222
5	POLR2A	chr14:21571591-21572924	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr14:21571740-21572889	MCF-7	breast:	n/a	n/a
7	SREBP1	chr14:21571414-21573132	GM12878	blood:	n/a	chr14:21572662-21572673
8	MYC	chr14:21571298-21572953	K562	blood:	n/a	chr14:21572210-21572219
9	ZKSCAN1	chr14:21571712-21572959	Hela-S3	cervix:	n/a	n/a
10	RFX5	chr14:21571650-21572999	Hela-S3	cervix:	n/a	n/a
11	PML	chr14:21571662-21572677	K562	blood:	n/a	chr14:21571867-21571875 chr14:21572209-21572218
12	HNF4G	chr14:21571696-21572982	HepG2	liver:	n/a	chr14:21572454-21572468 chr14:21572455-21572468 chr14:21572160-21572175 chr14:21572455-21572467 chr14:21572454-21572468 chr14:21572450-21572472 chr14:21572453-21572468 chr14:21572454-21572468
13	POLR2A	chr14:21571709-21572876	MCF-7	breast:	n/a	n/a
14	CTCF	chr14:21572512-21572935	H1-hESC	embryonic stem cell:	n/a	chr14:21572589-21572602
15	HNF4A	chr14:21571614-21572956	HepG2	liver:	n/a	chr14:21572454-21572468 chr14:21572455-21572468 chr14:21572160-21572175 chr14:21572433-21572448 chr14:21572455-21572467 chr14:21572453-21572468 chr14:21572454-21572468 chr14:21572450-21572472 chr14:21572453-21572468 chr14:21572454-21572468
16	BRCA1	chr14:21571625-21572895	GM12878	blood:	n/a	n/a
17	RCOR1	chr14:21571668-21572972	K562	blood:	n/a	n/a
18	RAD21	chr14:21572460-21573073	ECC-1	luminal epithelium:	n/a	chr14:21572595-21572609 chr14:21572588-21572602
19	NFIC	chr14:21571543-21572724	GM12878	blood:	n/a	n/a
20	E2F6	chr14:21571957-21572872	H1-hESC	embryonic stem cell:	n/a	chr14:21572347-21572354 chr14:21572011-21572020 chr14:21572347-21572354 chr14:21572346-21572354 chr14:21572346-21572358 chr14:21572347-21572354 chr14:21572345-21572356
21	RAD21	chr14:21572217-21573070	HepG2	liver:	n/a	chr14:21572595-21572609 chr14:21572588-21572602
22	TAF1	chr14:21571611-21572778	ECC-1	luminal epithelium:	n/a	n/a
23	JUND	chr14:21571448-21572956	H1-hESC	embryonic stem cell:	n/a	chr14:21572209-21572220 chr14:21572211-21572219 chr14:21572209-21572221
24	POLR2A	chr14:21572631-21572980	HCT-116	colon:	n/a	n/a
25	EP300	chr14:21572314-21572822	K562	blood:	n/a	n/a
26	TBP	chr14:21572147-21572981	Hela-S3	cervix:	n/a	n/a
27	RAD21	chr14:21572568-21572868	K562	blood:	n/a	chr14:21572595-21572609 chr14:21572588-21572602
28	POLR2A	chr14:21571598-21572963	MCF-7	breast:	n/a	n/a
29	CTCF	chr14:21572578-21573046	IMR90	lung:	n/a	chr14:21572589-21572602
30	RAD21	chr14:21571725-21573025	HepG2	liver:	n/a	chr14:21572595-21572609 chr14:21572588-21572602
31	KAP1	chr14:21571610-21573311	HEK293	kidney:	n/a	chr14:21571867-21571875 chr14:21572209-21572218
32	MYC	chr14:21570680-21572957	K562	blood:	n/a	chr14:21572210-21572219
33	MYC	chr14:21572627-21572947	MCF10A-Er-Src	breast:	n/a	n/a
34	SRF	chr14:21571505-21572945	MCF-7	breast:	n/a	n/a
35	RAD21	chr14:21571752-21573024	IMR90	lung:	n/a	chr14:21572595-21572609 chr14:21572588-21572602
36	EBF1	chr14:21571769-21572946	GM12878	blood:	n/a	chr14:21572741-21572754 chr14:21572742-21572752 chr14:21572742-21572753
37	POLR2A	chr14:21571420-21573825	SK-N-MC	brain:	n/a	n/a
38	PML	chr14:21571581-21573131	GM12878	blood:	n/a	chr14:21571867-21571875 chr14:21572209-21572218
39	MAX	chr14:21571214-21573008	Hela-S3	cervix:	n/a	chr14:21572210-21572219
40	STAT5A	chr14:21571594-21572806	GM12878	blood:	n/a	n/a
41	CTCF	chr14:21571541-21573234	HCT-116	colon:	n/a	chr14:21572589-21572602 chr14:21573064-21573085
42	HDAC2	chr14:21571397-21572979	HepG2	liver:	n/a	chr14:21571886-21571905
43	CTCF	chr14:21571581-21573172	HCT-116	colon:	n/a	chr14:21572589-21572602 chr14:21573064-21573085
44	ATF2	chr14:21571561-21573073	GM12878	blood:	n/a	n/a
45	RAD21	chr14:21572619-21573028	H1-hESC	embryonic stem cell:	n/a	n/a
46	CREB1	chr14:21571373-21573228	HepG2	liver:	n/a	n/a
47	MYBL2	chr14:21571472-21573141	HepG2	liver:	n/a	n/a
48	USF2	chr14:21571605-21572774	GM12878	blood:	n/a	n/a
49	USF1	chr14:21571627-21572950	A549	lung:	n/a	n/a
50	CTCF	chr14:21572605-21572931	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:21500318..21502814-chr14:21570831..21572874,2	MCF-7	breast:
2	chr14:21490094..21494864-chr14:21570311..21573560,5	MCF-7	breast:
3	chr14:21557595..21561276-chr14:21569876..21572764,3	K562	blood:
4	chr14:21572468..21572981-chr5:41870321..41871052,2	HCT-116	colon:
5	chr14:21560165..21562060-chr14:21571430..21574537,42	MCF-7	breast:
6	chr14:21548790..21550824-chr14:21570326..21573166,2	MCF-7	breast:
7	chr14:21490497..21493349-chr14:21570966..21572824,2	MCF-7	breast:
8	chr14:21570872..21573574-chr14:21575032..21578187,3	MCF-7	breast:
9	chr14:21554536..21557274-chr14:21571026..21572817,2	K562	blood:
10	chr14:21535299..21541334-chr14:21568487..21576770,16	MCF-7	breast:
11	chr14:21535250..21540469-chr14:21570413..21576715,8	K562	blood:
12	chr14:21572213..21574693-chr17:56708000..56709846,2	MCF-7	breast:
13	chr14:21535130..21541812-chr14:21564802..21576767,22	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178107	TF binding region
ZNF219	TF binding region
ENSG00000165804	Chromatin interaction
ENSG00000083720	Chromatin interaction
ENSG00000179636	Chromatin interaction
ENSG00000165801	Chromatin interaction
ENSG00000258714	Chromatin interaction
ENSG00000255472	Chromatin interaction
ENSG00000165795	Chromatin interaction
ENSG00000258604	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000178107	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10400725	0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs12432623	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12434837	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12889267	0.85[AMR][1000 genomes]
rs12895726	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2319625	0.88[AMR][1000 genomes]
rs2319626	0.88[AMR][1000 genomes]
rs2319627	0.88[AMR][1000 genomes]
rs36100359	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs45486304	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66995536	0.88[AMR][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	nsv530009	chr14:21377022-22044608	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
2	nsv530769	chr14:21407536-22139126	Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
3	nsv916319	chr14:21507092-21896590	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv1036762	chr14:21507093-22101805	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv541976	chr14:21507093-22101805	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv826882	chr14:21511021-21604201	Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	nsv530770	chr14:21526410-21852363	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
8	nsv525724	chr14:21540863-21574690	Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr14:21571000-21573000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:21571000-21573000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:21571400-21572800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:21571400-21572800	Active TSS	Brain Hippocampus Middle	brain
5	chr14:21571400-21572800	Active TSS	Small Intestine	intestine
6	chr14:21571400-21572800	Active TSS	A549	lung
7	chr14:21571400-21573000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:21571400-21573000	Active TSS	Fetal Kidney	kidney
9	chr14:21571400-21573000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr14:21571400-21573000	Active TSS	Psoas Muscle	Psoas
11	chr14:21571400-21573200	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr14:21571600-21572800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr14:21571600-21572800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr14:21571600-21572800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr14:21571600-21572800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:21571600-21572800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:21571600-21572800	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr14:21571600-21572800	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr14:21571600-21572800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:21571600-21572800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr14:21571600-21572800	Active TSS	Aorta	Aorta
22	chr14:21571600-21572800	Active TSS	Brain Angular Gyrus	brain
23	chr14:21571600-21572800	Active TSS	Brain Cingulate Gyrus	brain
24	chr14:21571600-21572800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:21571600-21572800	Active TSS	Brain Substantia Nigra	brain
26	chr14:21571600-21572800	Active TSS	Colon Smooth Muscle	Colon
27	chr14:21571600-21572800	Active TSS	Esophagus	oesophagus
28	chr14:21571600-21572800	Active TSS	Left Ventricle	heart
29	chr14:21571600-21572800	Active TSS	Right Ventricle	heart
30	chr14:21571600-21572800	Active TSS	Sigmoid Colon	Sigmoid Colon
31	chr14:21571600-21572800	Active TSS	Thymus	Thymus
32	chr14:21571600-21572800	Active TSS	Dnd41	blood
33	chr14:21571600-21572800	Active TSS	GM12878-XiMat	blood
34	chr14:21571600-21573000	Active TSS	H1 Cell Line	embryonic stem cell
35	chr14:21571600-21573000	Active TSS	H9 Cell Line	embryonic stem cell
36	chr14:21571600-21573000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:21571600-21573000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr14:21571600-21573000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr14:21571600-21573000	Active TSS	Fetal Brain Female	brain
40	chr14:21571600-21573200	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr14:21571600-21573200	Active TSS	iPS-20b Cell Line	embryonic stem cell
42	chr14:21571600-21573200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr14:21571600-21573200	Active TSS	Brain Germinal Matrix	brain
44	chr14:21571800-21572800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr14:21571800-21572800	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr14:21571800-21572800	Active TSS	iPS-15b Cell Line	embryonic stem cell
47	chr14:21571800-21572800	Active TSS	Primary T cells from cord blood	blood
48	chr14:21571800-21572800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr14:21571800-21572800	Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr14:21571800-21572800	Active TSS	Primary T regulatory cells fromperipheralblood	blood

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