Variant report

Variant	rs45486304
Chromosome Location	chr14:21572840-21572841
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	MYBL2	chr14:21571143-21573397	HepG2	liver:	n/a	n/a
2	CTCF	chr14:21572740-21572890	AG09319	gingival:	n/a	n/a
3	SMC3	chr14:21571415-21573017	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr14:21571669-21572927	H1-hESC	embryonic stem cell:	n/a	n/a
5	BACH1	chr14:21571720-21572928	H1-hESC	embryonic stem cell:	n/a	chr14:21572208-21572222
6	POLR2A	chr14:21571591-21572924	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr14:21571740-21572889	MCF-7	breast:	n/a	n/a
8	SREBP1	chr14:21571414-21573132	GM12878	blood:	n/a	chr14:21572662-21572673
9	CTCF	chr14:21572800-21572950	HCT-116	colon:	n/a	n/a
10	MYC	chr14:21571298-21572953	K562	blood:	n/a	chr14:21572210-21572219
11	ZKSCAN1	chr14:21571712-21572959	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr14:21572720-21572870	SK-N-SH_RA	brain:	n/a	n/a
13	RFX5	chr14:21571650-21572999	Hela-S3	cervix:	n/a	n/a
14	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
15	POLR2A	chr14:21571709-21572876	MCF-7	breast:	n/a	n/a
16	CTCF	chr14:21572512-21572935	H1-hESC	embryonic stem cell:	n/a	chr14:21572589-21572602
17	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
18	BRCA1	chr14:21571625-21572895	GM12878	blood:	n/a	n/a
19	RCOR1	chr14:21571668-21572972	K562	blood:	n/a	n/a
20	CTCF	chr14:21572668-21572957	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr14:21572760-21572910	HRE	kidney:	n/a	n/a
22	CTCF	chr14:21572740-21572890	Caco-2	colon:	n/a	n/a
23	RAD21	chr14:21572460-21573073	ECC-1	luminal epithelium:	n/a	chr14:21572595-21572609 chr14:21572588-21572602
24	CTCF	chr14:21572662-21572956	Fibrobl	skin:	n/a	n/a
25	CTCF	chr14:21572700-21572850	GM12865	blood:	n/a	n/a
26	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
27	RAD21	chr14:21572217-21573070	HepG2	liver:	n/a	chr14:21572595-21572609 chr14:21572588-21572602
28	CTCF	chr14:21572740-21572890	HFF	foreskin:	n/a	n/a
29	CTCF	chr14:21572687-21572940	LNCaP	prostate:	n/a	n/a
30	JUND	chr14:21571448-21572956	H1-hESC	embryonic stem cell:	n/a	chr14:21572209-21572220 chr14:21572211-21572219 chr14:21572209-21572221
31	POLR2A	chr14:21572631-21572980	HCT-116	colon:	n/a	n/a
32	CTCF	chr14:21572760-21572910	NHEK	skin:	n/a	n/a
33	TBP	chr14:21572147-21572981	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr14:21572740-21572890	HAc	cerebellar:	n/a	n/a
35	CTCF	chr14:21572720-21572870	HPAF	blood vessel:	n/a	n/a
36	RAD21	chr14:21572568-21572868	K562	blood:	n/a	chr14:21572595-21572609 chr14:21572588-21572602
37	CTCF	chr14:21572780-21572930	NHDF-neo	bronchial:	n/a	n/a
38	CTCF	chr14:21572720-21572870	WERI-Rb-1	eye:	n/a	n/a
39	POLR2A	chr14:21571598-21572963	MCF-7	breast:	n/a	n/a
40	CTCF	chr14:21572578-21573046	IMR90	lung:	n/a	chr14:21572589-21572602
41	RAD21	chr14:21571725-21573025	HepG2	liver:	n/a	chr14:21572595-21572609 chr14:21572588-21572602
42	CTCF	chr14:21572760-21572910	SK-N-SH_RA	brain:	n/a	n/a
43	KAP1	chr14:21571610-21573311	HEK293	kidney:	n/a	chr14:21571867-21571875 chr14:21572209-21572218
44	MYC	chr14:21570680-21572957	K562	blood:	n/a	chr14:21572210-21572219
45	MYC	chr14:21572627-21572947	MCF10A-Er-Src	breast:	n/a	n/a
46	SRF	chr14:21571505-21572945	MCF-7	breast:	n/a	n/a
47	RAD21	chr14:21571752-21573024	IMR90	lung:	n/a	chr14:21572595-21572609 chr14:21572588-21572602
48	CTCF	chr14:21572682-21572938	H1-hESC	embryonic stem cell:	n/a	n/a
49	EBF1	chr14:21571769-21572946	GM12878	blood:	n/a	chr14:21572741-21572754 chr14:21572742-21572752 chr14:21572742-21572753
50	POLR2A	chr14:21571420-21573825	SK-N-MC	brain:	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	chr14:21572468..21572981-chr5:41870321..41871052,2	HCT-116	colon:
4	chr14:21560165..21562060-chr14:21571430..21574537,42	MCF-7	breast:
5	chr14:21548790..21550824-chr14:21570326..21573166,2	MCF-7	breast:
6	chr14:21570872..21573574-chr14:21575032..21578187,3	MCF-7	breast:
7	chr14:21535299..21541334-chr14:21568487..21576770,16	MCF-7	breast:
8	chr14:21535250..21540469-chr14:21570413..21576715,8	K562	blood:
9	chr14:21572213..21574693-chr17:56708000..56709846,2	MCF-7	breast:
10	chr14:21535130..21541812-chr14:21564802..21576767,22	MCF-7	breast:

Variant related genes	Relation type
ENSG00000178107	TF binding region
ZNF219	TF binding region
ENSG00000179636	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000178107	Chromatin interaction
ENSG00000258604	Chromatin interaction
ENSG00000083720	Chromatin interaction
ENSG00000165795	Chromatin interaction
ENSG00000165801	Chromatin interaction
ENSG00000255472	Chromatin interaction
ENSG00000165804	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	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs45515493	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:125 , 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	chr14:21571400-21573000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:21571400-21573000	Active TSS	Fetal Kidney	kidney
5	chr14:21571400-21573000	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr14:21571400-21573000	Active TSS	Psoas Muscle	Psoas
7	chr14:21571400-21573200	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr14:21571600-21573000	Active TSS	H1 Cell Line	embryonic stem cell
9	chr14:21571600-21573000	Active TSS	H9 Cell Line	embryonic stem cell
10	chr14:21571600-21573000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr14:21571600-21573000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:21571600-21573000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:21571600-21573000	Active TSS	Fetal Brain Female	brain
14	chr14:21571600-21573200	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr14:21571600-21573200	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr14:21571600-21573200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr14:21571600-21573200	Active TSS	Brain Germinal Matrix	brain
18	chr14:21571800-21573000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:21571800-21573200	Active TSS	Fetal Brain Male	brain
20	chr14:21572200-21573000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
21	chr14:21572200-21573000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
22	chr14:21572200-21573000	Flanking Active TSS	NH-A	brain
23	chr14:21572200-21573200	Flanking Active TSS	HMEC	breast
24	chr14:21572200-21573400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
25	chr14:21572400-21573000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:21572400-21573000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
27	chr14:21572400-21573000	Flanking Active TSS	Primary B cells from cord blood	blood
28	chr14:21572400-21573000	Flanking Active TSS	Primary hematopoietic stem cells	blood
29	chr14:21572400-21573000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr14:21572400-21573000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
31	chr14:21572400-21573000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr14:21572400-21573000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr14:21572400-21573000	Flanking Active TSS	Fetal Muscle Leg	muscle
34	chr14:21572400-21573000	Flanking Active TSS	HUVEC	blood vessel
35	chr14:21572400-21573000	Flanking Active TSS	NHEK	skin
36	chr14:21572400-21573000	Flanking Active TSS	NHLF	lung
37	chr14:21572400-21573000	Flanking Active TSS	Osteobl	bone
38	chr14:21572400-21573200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr14:21572400-21573200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr14:21572400-21573200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr14:21572400-21573200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr14:21572400-21573200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr14:21572400-21573200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr14:21572400-21573200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr14:21572400-21573200	Flanking Active TSS	Stomach Smooth Muscle	stomach
46	chr14:21572400-21573400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr14:21572400-21573400	Flanking Active TSS	Adipose Nuclei	Adipose
48	chr14:21572400-21573400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
49	chr14:21572400-21575400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
50	chr14:21572600-21573000	Flanking Active TSS	Primary B cells from peripheral blood	blood

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