Variant report

Variant	rs13379236
Chromosome Location	chr14:24835740-24835741
allele	A/C
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	TAF1	chr14:24835697-24836793	ECC-1	luminal epithelium:	n/a	n/a
2	TCF7L2	chr14:24835280-24835760	Hela-S3	cervix:	n/a	chr14:24835466-24835480 chr14:24835467-24835481 chr14:24835468-24835478 chr14:24835470-24835479 chr14:24835466-24835482 chr14:24835466-24835482
3	POLR2A	chr14:24835171-24838793	SK-N-MC	brain:	n/a	n/a
4	SIN3AK20	chr14:24834707-24837100	MCF-7	breast:	n/a	n/a
5	HDAC2	chr14:24835735-24837034	HepG2	liver:	n/a	n/a
6	NR2F2	chr14:24834817-24837037	MCF-7	breast:	n/a	n/a
7	POLR2A	chr14:24834943-24836204	MCF-7	breast:	n/a	n/a
8	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
9	CHD2	chr14:24835657-24835775	H1-hESC	embryonic stem cell:	n/a	n/a
10	ZEB1	chr14:24835611-24836991	HepG2	liver:	n/a	n/a
11	POLR2A	chr14:24835693-24837389	NB4	blood:	n/a	n/a
12	TEAD4	chr14:24835592-24836794	SK-N-SH	brain:	n/a	n/a
13	PBX3	chr14:24834836-24837421	SK-N-SH	brain:	n/a	chr14:24837319-24837328 chr14:24835856-24835876
14	POLR2A	chr14:24835628-24836755	HUVEC	blood vessel:	n/a	n/a
15	CHD1	chr14:24834050-24838822	IMR90	lung:	n/a	chr14:24835865-24835875
16	POLR2A	chr14:24834712-24836862	HUVEC	blood vessel:	n/a	n/a
17	POLR2A	chr14:24835592-24836236	U87	brain:	n/a	n/a
18	TCF7L2	chr14:24835103-24836269	Hela-S3	cervix:	n/a	chr14:24835466-24835480 chr14:24835467-24835481 chr14:24835468-24835478 chr14:24835470-24835479 chr14:24835466-24835482 chr14:24835466-24835482
19	GATA3	chr14:24834707-24836970	MCF-7	breast:	n/a	n/a
20	POLR2A	chr14:24834867-24838188	HUVEC	blood vessel:	n/a	n/a
21	ZNF384	chr14:24835552-24837473	GM12878	blood:	n/a	n/a
22	POLR2A	chr14:24835715-24836215	U87	brain:	n/a	n/a
23	MXI1	chr14:24835274-24835816	Hela-S3	cervix:	n/a	n/a
24	NFIC	chr14:24835699-24837193	GM12878	blood:	n/a	n/a
25	POLR2A	chr14:24835589-24836059	PFSK-1	brain:	n/a	n/a
26	POLR2A	chr14:24834945-24836167	ProgFib	skin:	n/a	n/a
27	POLR2A	chr14:24834737-24836856	SK-N-SH	brain:	n/a	n/a
28	POLR2A	chr14:24835586-24836236	U87	brain:	n/a	n/a
29	TCF12	chr14:24835736-24836878	A549	lung:	n/a	n/a
30	MAX	chr14:24835187-24837252	ECC-1	luminal epithelium:	n/a	chr14:24835199-24835209
31	POLR2A	chr14:24834888-24837326	Raji	blood:	n/a	n/a
32	MAX	chr14:24834873-24836832	NB4	blood:	n/a	chr14:24835199-24835209
33	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
34	UBTF	chr14:24835674-24836041	K562	blood:	n/a	n/a
35	MAX	chr14:24834832-24836915	MCF-7	breast:	n/a	chr14:24835199-24835209
36	MAX	chr14:24835730-24837501	SK-N-SH	brain:	n/a	chr14:24837432-24837442 chr14:24837336-24837346
37	SIN3AK20	chr14:24834630-24836735	MCF-7	breast:	n/a	n/a
38	NFIC	chr14:24835718-24836893	ECC-1	luminal epithelium:	n/a	n/a
39	ZEB1	chr14:24835733-24836804	GM12878	blood:	n/a	n/a
40	POLR2A	chr14:24835073-24836169	ECC-1	luminal epithelium:	n/a	n/a
41	UBTF	chr14:24835718-24836782	K562	blood:	n/a	n/a
42	SMC3	chr14:24834435-24837260	SK-N-SH	brain:	n/a	chr14:24835038-24835052 chr14:24835042-24835052
43	MAX	chr14:24835727-24836617	A549	lung:	n/a	n/a
44	MAX	chr14:24834896-24837384	SK-N-SH	brain:	n/a	chr14:24835199-24835209 chr14:24837336-24837346
45	POLR2A	chr14:24835726-24837178	GM12878	blood:	n/a	n/a
46	EBF1	chr14:24835649-24837249	GM12878	blood:	n/a	chr14:24835928-24835941 chr14:24835930-24835939 chr14:24835950-24835961
47	POLR2A	chr14:24834875-24838597	IMR90	lung:	n/a	n/a
48	POLR2A	chr14:24835281-24836218	MCF10A-Er-Src	breast:	n/a	n/a
49	SP1	chr14:24834639-24837512	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
50	TBP	chr14:24835711-24836647	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:24708705..24711391-chr14:24835145..24836827,2	MCF-7	breast:
2	chr14:24627394..24630112-chr14:24833031..24835825,2	K562	blood:
3	chr14:24833553..24839988-chr14:24894553..24902357,9	K562	blood:
4	chr14:24827418..24850855-chr14:24894884..24913772,127	MCF-7	breast:
5	chr14:24834361..24836035-chr14:24881010..24881990,12	MCF-7	breast:
6	chr14:24796879..24804920-chr14:24831628..24840088,12	MCF-7	breast:
7	chr14:24816528..24849574-chr14:24893305..24914155,145	MCF-7	breast:
8	chr14:24834498..24835762-chr14:24880980..24882037,25	MCF-7	breast:
9	chr14:24833867..24840783-chr14:24879585..24886299,12	MCF-7	breast:
10	chr14:24831849..24834970-chr14:24835074..24838209,3	K562	blood:
11	chr14:24833707..24839988-chr14:24896546..24902736,10	K562	blood:
12	chr14:24710306..24713162-chr14:24834355..24837181,3	MCF-7	breast:
13	chr14:24834934..24835798-chr14:24844850..24845592,2	MCF-7	breast:
14	chr14:24834239..24835761-chr14:24900242..24902851,45	MCF-7	breast:
15	chr14:24805754..24808104-chr14:24833773..24836418,2	MCF-7	breast:
16	chr14:24834749..24836813-chr14:24843858..24845467,2	K562	blood:
17	chr14:24801495..24803055-chr14:24833652..24836395,3	MCF-7	breast:
18	chr14:24834871..24836574-chr14:24881595..24883605,2	MCF-7	breast:

Variant related genes	Relation type
NFATC4	TF binding region
ENSG00000139899	Chromatin interaction
ENSG00000092330	Chromatin interaction
ENSG00000129465	Chromatin interaction
ENSG00000199804	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000258973	Chromatin interaction
ENSG00000100968	Chromatin interaction
ENSG00000205978	Chromatin interaction
ENSG00000100445	Chromatin interaction
ENSG00000092098	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10129435	0.83[AFR][1000 genomes]
rs10130279	0.83[AFR][1000 genomes]
rs10139343	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10141054	0.83[AFR][1000 genomes]
rs10143642	0.81[AFR][1000 genomes]
rs10148620	0.83[AFR][1000 genomes]
rs12323359	0.81[AFR][1000 genomes]
rs2228232	0.87[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28393208	0.83[AFR][1000 genomes]
rs28575809	0.83[AFR][1000 genomes]
rs28695950	0.83[AFR][1000 genomes]
rs56240078	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24834400-24835800	Flanking Active TSS	Osteobl	bone
2	chr14:24834400-24836200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
3	chr14:24834400-24836400	Enhancers	HSMMtube	muscle
4	chr14:24834400-24836600	Enhancers	Fetal Heart	heart
5	chr14:24834600-24835800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:24834600-24836000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
7	chr14:24834800-24835800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
8	chr14:24834800-24835800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
9	chr14:24834800-24836600	Bivalent Enhancer	Fetal Brain Male	brain
10	chr14:24834800-24837200	Flanking Active TSS	HUVEC	blood vessel
11	chr14:24834800-24837200	Flanking Active TSS	NHEK	skin
12	chr14:24834800-24838000	Flanking Bivalent TSS/Enh	HepG2	liver
13	chr14:24834800-24838400	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr14:24834800-24838800	Active TSS	HUES48 Cell Line	embryonic stem cell
15	chr14:24835000-24835800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr14:24835000-24835800	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
17	chr14:24835000-24835800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
18	chr14:24835000-24835800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr14:24835000-24835800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:24835000-24835800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr14:24835000-24835800	Enhancers	Spleen	Spleen
22	chr14:24835000-24836000	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr14:24835000-24836200	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
24	chr14:24835000-24836600	Active TSS	Right Ventricle	heart
25	chr14:24835000-24836800	Flanking Active TSS	Fetal Muscle Leg	muscle
26	chr14:24835000-24836800	Flanking Active TSS	Fetal Thymus	thymus
27	chr14:24835000-24837000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:24835000-24837000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr14:24835000-24837200	Flanking Active TSS	Stomach Smooth Muscle	stomach
30	chr14:24835000-24837600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:24835000-24837800	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr14:24835000-24837800	Flanking Active TSS	Brain Germinal Matrix	brain
33	chr14:24835000-24838200	Active TSS	ES-I3 Cell Line	embryonic stem cell
34	chr14:24835000-24838200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr14:24835000-24838400	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr14:24835000-24838400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:24835000-24838400	Active TSS	Ovary	ovary
38	chr14:24835000-24838600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr14:24835000-24838600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr14:24835000-24838600	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr14:24835000-24838800	Active TSS	H9 Cell Line	embryonic stem cell
42	chr14:24835000-24838800	Active TSS	Fetal Kidney	kidney
43	chr14:24835200-24835800	Flanking Active TSS	Primary B cells from cord blood	blood
44	chr14:24835200-24835800	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr14:24835200-24835800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr14:24835200-24835800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr14:24835200-24835800	Enhancers	Sigmoid Colon	Sigmoid Colon
48	chr14:24835200-24835800	Enhancers	K562	blood
49	chr14:24835200-24836000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr14:24835200-24836000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood

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