Variant report

Variant	rs73595020
Chromosome Location	chr14:24912169-24912170
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:468)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:468 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr14:24903461-24912546	GM12892	blood:	n/a	n/a
2	POLR2A	chr14:24911115-24912468	H1-hESC	embryonic stem cell:	n/a	n/a
3	RELA	chr14:24911306-24912339	GM19099	blood:	n/a	n/a
4	WRNIP1	chr14:24911541-24912382	GM12878	blood:	n/a	n/a
5	NR2C2	chr14:24911954-24912339	K562	blood:	n/a	chr14:24912113-24912122
6	FOXA2	chr14:24911781-24912429	A549	lung:	n/a	n/a
7	GABPA	chr14:24911063-24912610	MCF-7	breast:	n/a	chr14:24911992-24912003 chr14:24911992-24912006 chr14:24912044-24912058 chr14:24912047-24912058
8	GTF2F1	chr14:24911883-24912289	K562	blood:	n/a	n/a
9	ELF1	chr14:24911192-24912471	HepG2	liver:	n/a	chr14:24911886-24911895 chr14:24911887-24911896
10	POLR2A	chr14:24911190-24912367	HepG2	liver:	n/a	n/a
11	PBX3	chr14:24911216-24912257	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr14:24911149-24912453	HUVEC	blood vessel:	n/a	n/a
13	EP300	chr14:24911628-24912388	GM12878	blood:	n/a	n/a
14	TBP	chr14:24911389-24912665	HepG2	liver:	n/a	n/a
15	TEAD4	chr14:24911549-24912430	K562	blood:	n/a	n/a
16	POLR2A	chr14:24911139-24912669	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr14:24911084-24912401	SK-N-SH	brain:	n/a	n/a
18	SIN3A	chr14:24911189-24912481	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr14:24910478-24912449	Hela-S3	cervix:	n/a	n/a
20	HNF4A	chr14:24911625-24912388	HepG2	liver:	n/a	n/a
21	CEBPB	chr14:24911917-24912286	A549	lung:	n/a	n/a
22	STAT3	chr14:24911947-24912318	MCF10A-Er-Src	breast:	n/a	chr14:24912053-24912073 chr14:24912057-24912068
23	JUND	chr14:24911070-24912454	HepG2	liver:	n/a	n/a
24	EP300	chr14:24911788-24912409	GM12878	blood:	n/a	n/a
25	POLR2A	chr14:24905485-24912569	HUVEC	blood vessel:	n/a	n/a
26	BHLHE40	chr14:24911459-24912295	K562	blood:	n/a	n/a
27	ZKSCAN1	chr14:24911374-24912236	Hela-S3	cervix:	n/a	n/a
28	SRF	chr14:24911694-24912389	HepG2	liver:	n/a	n/a
29	POLR2A	chr14:24910801-24912429	U87	brain:	n/a	n/a
30	CHD2	chr14:24911347-24912300	HepG2	liver:	n/a	n/a
31	SIN3AK20	chr14:24912058-24912402	A549	lung:	n/a	n/a
32	POLR2A	chr14:24911149-24912400	K562	blood:	n/a	n/a
33	POLR2A	chr14:24905933-24912504	MCF-7	breast:	n/a	n/a
34	ZNF143	chr14:24911732-24912334	K562	blood:	n/a	n/a
35	YY1	chr14:24911124-24912401	HepG2	liver:	n/a	chr14:24911497-24911511
36	TEAD4	chr14:24911901-24912324	H1-hESC	embryonic stem cell:	n/a	n/a
37	RELA	chr14:24911284-24912434	GM10847	blood:	n/a	n/a
38	TAF1	chr14:24912031-24912405	GM12878	blood:	n/a	n/a
39	NFE2	chr14:24911481-24912260	GM12878	blood:	n/a	n/a
40	YY1	chr14:24911419-24912373	SK-N-SH_RA	brain:	n/a	chr14:24911497-24911511
41	CEBPB	chr14:24911885-24912288	K562	blood:	n/a	n/a
42	HEY1	chr14:24911399-24912457	K562	blood:	n/a	n/a
43	MAX	chr14:24911264-24912345	NB4	blood:	n/a	n/a
44	CEBPB	chr14:24911884-24912335	ECC-1	luminal epithelium:	n/a	n/a
45	MYC	chr14:24911255-24912392	NB4	blood:	n/a	n/a
46	MAX	chr14:24910938-24912435	HCT-116	colon:	n/a	n/a
47	MAX	chr14:24911359-24912267	HUVEC	blood vessel:	n/a	n/a
48	ELF1	chr14:24911246-24912305	GM12878	blood:	n/a	chr14:24911886-24911895 chr14:24911887-24911896
49	POLR2A	chr14:24911235-24912445	GM12878	blood:	n/a	n/a
50	ELK1	chr14:24911560-24912342	Hela-S3	cervix:	n/a	n/a

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24836714..24839783-chr14:24910555..24913487,3	K562	blood:
2	chr14:24816528..24849574-chr14:24893305..24914155,145	MCF-7	breast:
3	chr14:24789439..24822082-chr14:24898039..24913135,99	MCF-7	breast:
4	chr10:70715820..70716456-chr14:24911635..24912197,2	Hela-S3	cervix:
5	chr14:24791358..24808812-chr14:24895309..24913599,55	K562	blood:
6	chr14:24898746..24899612-chr14:24911431..24912345,3	Hela-S3	cervix:
7	chr14:24767332..24771774-chr14:24910139..24913002,7	MCF-7	breast:
8	chr14:24698279..24701346-chr14:24909291..24912292,3	MCF-7	breast:
9	chr14:24738849..24740758-chr14:24911753..24913964,2	MCF-7	breast:
10	chr11:61582689..61583740-chr14:24911655..24912354,3	Hela-S3	cervix:
11	chr14:24827418..24850855-chr14:24894884..24913772,127	MCF-7	breast:
12	chr14:24709335..24712189-chr14:24910783..24914037,3	K562	blood:
13	chr14:24781460..24810019-chr14:24892340..24914262,110	MCF-7	breast:
14	chr14:24767708..24770495-chr14:24910481..24913051,4	MCF-7	breast:
15	chr14:24911438..24912197-chr19:50379665..50380613,2	Hela-S3	cervix:
16	chr14:24800598..24804207-chr14:24909756..24912911,5	K562	blood:
17	chr14:24911211..24912178-chr19:13875300..13875832,2	Hela-S3	cervix:
18	chr14:24912076..24912697-chr19:49990472..49990986,2	NB4	blood:
19	chr14:24911539..24912418-chr16:9185072..9185743,2	Hela-S3	cervix:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RP11-80A15.1.1-1	chr14:24912159-24912347	NR_110032

No data

Variant related genes	Relation type
SDR39U1	TF binding region
ENSG00000258973	Chromatin interaction
ENSG00000134824	Chromatin interaction
ENSG00000165732	Chromatin interaction
ENSG00000100949	Chromatin interaction
ENSG00000037757	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000213903	Chromatin interaction
ENSG00000204673	Chromatin interaction
ENSG00000149485	Chromatin interaction
ENSG00000222326	Chromatin interaction
ENSG00000142541	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000092330	Chromatin interaction
ENSG00000100968	Chromatin interaction
ENSG00000129559	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000207141	Chromatin interaction
ENSG00000182831	Chromatin interaction
ENSG00000129465	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17103765	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58499825	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1041336	chr14:24726564-25527319	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
2	nsv542000	chr14:24726564-25527319	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
3	nsv1053330	chr14:24908047-24993666	Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	n/a
4	nsv564061	chr14:24911138-24945331	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24910600-24913000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr14:24910800-24912800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:24910800-24913000	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr14:24910800-24913000	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr14:24910800-24913000	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr14:24910800-24913200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr14:24911000-24912200	Active TSS	Fetal Brain Female	brain
8	chr14:24911000-24912800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr14:24911000-24912800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:24911000-24912800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr14:24911000-24912800	Active TSS	Aorta	Aorta
12	chr14:24911000-24912800	Active TSS	Sigmoid Colon	Sigmoid Colon
13	chr14:24911000-24913000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr14:24911000-24913000	Active TSS	H1 Cell Line	embryonic stem cell
15	chr14:24911000-24913000	Active TSS	H9 Cell Line	embryonic stem cell
16	chr14:24911000-24913000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:24911000-24913000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:24911000-24913000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr14:24911000-24913000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:24911000-24913000	Active TSS	Psoas Muscle	Psoas
21	chr14:24911000-24913000	Active TSS	A549	lung
22	chr14:24911000-24913000	Active TSS	NHLF	lung
23	chr14:24911000-24913200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:24911000-24913200	Active TSS	HUES64 Cell Line	embryonic stem cell
25	chr14:24911000-24913200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr14:24911200-24912200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr14:24911200-24912600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:24911200-24912600	Active TSS	Fetal Brain Male	brain
29	chr14:24911200-24912600	Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr14:24911200-24912600	Active TSS	Ovary	ovary
31	chr14:24911200-24912600	Active TSS	NH-A	brain
32	chr14:24911200-24912600	Active TSS	Osteobl	bone
33	chr14:24911200-24912800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr14:24911200-24912800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr14:24911200-24912800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr14:24911200-24912800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr14:24911200-24912800	Active TSS	Lung	lung
38	chr14:24911200-24912800	Active TSS	HMEC	breast
39	chr14:24911200-24913000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr14:24911200-24913000	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr14:24911200-24913000	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr14:24911200-24913000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr14:24911200-24913200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:24911200-24913200	Active TSS	HSMM	muscle
45	chr14:24911400-24912200	Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr14:24911400-24912400	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr14:24911400-24912400	Active TSS	Primary monocytes fromperipheralblood	blood
48	chr14:24911400-24912400	Active TSS	Primary B cells from peripheral blood	blood
49	chr14:24911400-24912400	Active TSS	Primary T cells from cord blood	blood
50	chr14:24911400-24912400	Active TSS	Primary T helper naive cells from peripheral blood	blood

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