Variant report

Variant	rs28365903
Chromosome Location	chr14:24836815-24836816
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	POLR2A	chr14:24836589-24836928	ProgFib	skin:	n/a	n/a
2	YY1	chr14:24836217-24836891	HepG2	liver:	n/a	chr14:24836445-24836454 chr14:24836443-24836454 chr14:24836442-24836451
3	EP300	chr14:24836274-24836826	SK-N-SH_RA	brain:	n/a	n/a
4	POLR2A	chr14:24835171-24838793	SK-N-MC	brain:	n/a	n/a
5	SIN3AK20	chr14:24834707-24837100	MCF-7	breast:	n/a	n/a
6	HDAC2	chr14:24835735-24837034	HepG2	liver:	n/a	n/a
7	NR2F2	chr14:24834817-24837037	MCF-7	breast:	n/a	n/a
8	CHD2	chr14:24835985-24837554	H1-hESC	embryonic stem cell:	n/a	n/a
9	SP1	chr14:24834644-24837454	HCT-116	colon:	n/a	chr14:24836464-24836478 chr14:24835192-24835204 chr14:24835866-24835875 chr14:24836438-24836452 chr14:24837289-24837303 chr14:24837103-24837117 chr14:24835021-24835030 chr14:24835193-24835203 chr14:24836442-24836451 chr14:24835368-24835382 chr14:24835866-24835875 chr14:24835192-24835204 chr14:24837056-24837063 chr14:24836441-24836453 chr14:24836443-24836452 chr14:24835193-24835207 chr14:24835193-24835202 chr14:24835540-24835549 chr14:24835865-24835877 chr14:24836442-24836452 chr14:24835867-24835876 chr14:24835541-24835550 chr14:24837317-24837338 chr14:24835194-24835203 chr14:24836441-24836453
10	YY1	chr14:24836222-24836859	SK-N-SH_RA	brain:	n/a	chr14:24836445-24836454 chr14:24836443-24836454 chr14:24836442-24836451
11	ZEB1	chr14:24835611-24836991	HepG2	liver:	n/a	n/a
12	NFIC	chr14:24835925-24836914	HepG2	liver:	n/a	n/a
13	POLR2A	chr14:24835693-24837389	NB4	blood:	n/a	n/a
14	YY1	chr14:24836267-24836846	ECC-1	luminal epithelium:	n/a	chr14:24836445-24836454 chr14:24836443-24836454 chr14:24836442-24836451
15	PBX3	chr14:24834836-24837421	SK-N-SH	brain:	n/a	chr14:24837319-24837328 chr14:24835856-24835876
16	CHD1	chr14:24834050-24838822	IMR90	lung:	n/a	chr14:24835865-24835875
17	MYC	chr14:24836403-24837142	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr14:24834712-24836862	HUVEC	blood vessel:	n/a	n/a
19	ZBTB7A	chr14:24836552-24837000	K562	blood:	n/a	chr14:24836772-24836786
20	STAT5A	chr14:24836558-24836869	GM12878	blood:	n/a	n/a
21	SIN3AK20	chr14:24835900-24836833	H1-hESC	embryonic stem cell:	n/a	n/a
22	MTA3	chr14:24835964-24837216	GM12878	blood:	n/a	n/a
23	CREB1	chr14:24836166-24836820	H1-hESC	embryonic stem cell:	n/a	n/a
24	MAZ	chr14:24835852-24836816	K562	blood:	n/a	n/a
25	GATA3	chr14:24834707-24836970	MCF-7	breast:	n/a	n/a
26	POLR2A	chr14:24834867-24838188	HUVEC	blood vessel:	n/a	n/a
27	ZNF384	chr14:24835552-24837473	GM12878	blood:	n/a	n/a
28	HDAC2	chr14:24835795-24836951	MCF-7	breast:	n/a	n/a
29	GATA2	chr14:24836072-24836977	SH-SY5Y	brain:	n/a	n/a
30	YY1	chr14:24835921-24836851	ECC-1	luminal epithelium:	n/a	chr14:24836445-24836454 chr14:24836443-24836454 chr14:24836442-24836451 chr14:24836004-24836015
31	STAT1	chr14:24835846-24836875	GM12878	blood:	n/a	n/a
32	SP1	chr14:24835797-24837342	H1-hESC	embryonic stem cell:	n/a	chr14:24836464-24836478 chr14:24835866-24835875 chr14:24836438-24836452 chr14:24837289-24837303 chr14:24837103-24837117 chr14:24836442-24836451 chr14:24835866-24835875 chr14:24837056-24837063 chr14:24836441-24836453 chr14:24836443-24836452 chr14:24835865-24835877 chr14:24836442-24836452 chr14:24835867-24835876 chr14:24837317-24837338 chr14:24836441-24836453
33	NFIC	chr14:24835699-24837193	GM12878	blood:	n/a	n/a
34	POLR2A	chr14:24834737-24836856	SK-N-SH	brain:	n/a	n/a
35	MYBL2	chr14:24835856-24837014	HepG2	liver:	n/a	chr14:24836143-24836153
36	TCF12	chr14:24835736-24836878	A549	lung:	n/a	n/a
37	MAX	chr14:24835187-24837252	ECC-1	luminal epithelium:	n/a	chr14:24835199-24835209
38	POLR2A	chr14:24836556-24836910	MCF-7	breast:	n/a	n/a
39	POLR2A	chr14:24834888-24837326	Raji	blood:	n/a	n/a
40	MAX	chr14:24834873-24836832	NB4	blood:	n/a	chr14:24835199-24835209
41	ZNF143	chr14:24836009-24837197	H1-hESC	embryonic stem cell:	n/a	chr14:24836576-24836585
42	JUND	chr14:24834858-24837301	MCF-7	breast:	n/a	chr14:24835191-24835200 chr14:24835195-24835204 chr14:24836445-24836454 chr14:24836660-24836674 chr14:24835295-24835303 chr14:24835296-24835303 chr14:24836533-24836547
43	MAX	chr14:24834832-24836915	MCF-7	breast:	n/a	chr14:24835199-24835209
44	MAX	chr14:24835730-24837501	SK-N-SH	brain:	n/a	chr14:24837432-24837442 chr14:24837336-24837346
45	NFIC	chr14:24835718-24836893	ECC-1	luminal epithelium:	n/a	n/a
46	SMC3	chr14:24834435-24837260	SK-N-SH	brain:	n/a	chr14:24835038-24835052 chr14:24835042-24835052
47	EP300	chr14:24835753-24837056	MCF-7	breast:	n/a	n/a
48	MAX	chr14:24834896-24837384	SK-N-SH	brain:	n/a	chr14:24835199-24835209 chr14:24837336-24837346
49	POLR2A	chr14:24835726-24837178	GM12878	blood:	n/a	n/a
50	EBF1	chr14:24835649-24837249	GM12878	blood:	n/a	chr14:24835928-24835941 chr14:24835930-24835939 chr14:24835950-24835961

No.	Distal block	Cell Line	Cell type
1	chr14:24708705..24711391-chr14:24835145..24836827,2	MCF-7	breast:
2	chr14:24833553..24839988-chr14:24894553..24902357,9	K562	blood:
3	chr14:24827418..24850855-chr14:24894884..24913772,127	MCF-7	breast:
4	chr14:24836714..24839783-chr14:24910555..24913487,3	K562	blood:
5	chr14:24796879..24804920-chr14:24831628..24840088,12	MCF-7	breast:
6	chr14:24836675..24839120-chr14:24840231..24842410,2	K562	blood:
7	chr14:24816528..24849574-chr14:24893305..24914155,145	MCF-7	breast:
8	chr14:24833867..24840783-chr14:24879585..24886299,12	MCF-7	breast:
9	chr14:24831849..24834970-chr14:24835074..24838209,3	K562	blood:
10	chr14:24833707..24839988-chr14:24896546..24902736,10	K562	blood:
11	chr14:24710306..24713162-chr14:24834355..24837181,3	MCF-7	breast:
12	chr14:24770771..24773074-chr14:24835790..24837584,2	MCF-7	breast:
13	chr14:24820066..24821723-chr14:24836134..24837695,2	K562	blood:

Variant related genes	Relation type
NFATC4	TF binding region
ENSG00000207141	Chromatin interaction
ENSG00000205978	Chromatin interaction
ENSG00000092330	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000100968	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000100445	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10362	0.83[ASN][1000 genomes]
rs11158663	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12431836	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs45565135	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7148384	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7158837	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24834800-24837200	Flanking Active TSS	HUVEC	blood vessel
2	chr14:24834800-24837200	Flanking Active TSS	NHEK	skin
3	chr14:24834800-24838000	Flanking Bivalent TSS/Enh	HepG2	liver
4	chr14:24834800-24838400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr14:24834800-24838800	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr14:24835000-24837000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:24835000-24837000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr14:24835000-24837200	Flanking Active TSS	Stomach Smooth Muscle	stomach
9	chr14:24835000-24837600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:24835000-24837800	Flanking Active TSS	Adipose Nuclei	Adipose
11	chr14:24835000-24837800	Flanking Active TSS	Brain Germinal Matrix	brain
12	chr14:24835000-24838200	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr14:24835000-24838200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr14:24835000-24838400	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr14:24835000-24838400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
16	chr14:24835000-24838400	Active TSS	Ovary	ovary
17	chr14:24835000-24838600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:24835000-24838600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr14:24835000-24838600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr14:24835000-24838800	Active TSS	H9 Cell Line	embryonic stem cell
21	chr14:24835000-24838800	Active TSS	Fetal Kidney	kidney
22	chr14:24835200-24837200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr14:24835200-24837600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:24835200-24838400	Active TSS	Aorta	Aorta
25	chr14:24835200-24838600	Active TSS	Right Atrium	heart
26	chr14:24835200-24839200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr14:24835400-24838200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:24835400-24838200	Active TSS	Brain Angular Gyrus	brain
29	chr14:24835400-24838400	Active TSS	HUES6 Cell Line	embryonic stem cell
30	chr14:24835400-24838400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr14:24835400-24838400	Active TSS	Placenta Amnion	Placenta Amnion
32	chr14:24835400-24838600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:24835600-24837000	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr14:24835600-24837200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
35	chr14:24835600-24838200	Active TSS	H1 Cell Line	embryonic stem cell
36	chr14:24835600-24838200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr14:24835600-24838200	Active TSS	iPS-18 Cell Line	embryonic stem cell
38	chr14:24835600-24838400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr14:24835600-24838400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr14:24835600-24838400	Active TSS	iPS-20b Cell Line	embryonic stem cell
41	chr14:24835800-24837800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr14:24835800-24838200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr14:24835800-24838600	Active TSS	Gastric	stomach
44	chr14:24836000-24837000	Bivalent/Poised TSS	Psoas Muscle	Psoas
45	chr14:24836000-24837200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
46	chr14:24836000-24837800	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr14:24836000-24838400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
48	chr14:24836200-24837000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr14:24836200-24837000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
50	chr14:24836200-24837000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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