Variant report

Variant	rs28372734
Chromosome Location	chr14:24711798-24711799
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	CTCF	chr14:24710811-24712975	SK-N-SH	brain:	n/a	chr14:24712263-24712279 chr14:24712264-24712285 chr14:24712262-24712280 chr14:24711551-24711564
2	E2F4	chr14:24711038-24712406	K562	blood:	n/a	n/a
3	MYC	chr14:24711640-24712160	MCF-7	breast:	n/a	n/a
4	REST	chr14:24711693-24712143	SK-N-SH	brain:	n/a	n/a
5	SIN3AK20	chr14:24710935-24712943	MCF-7	breast:	n/a	n/a
6	GABPA	chr14:24710784-24712440	MCF-7	breast:	n/a	n/a
7	CEBPD	chr14:24710940-24712492	HepG2	liver:	n/a	n/a
8	SPI1	chr14:24711320-24712449	HL-60	blood:	n/a	n/a
9	TAF1	chr14:24711207-24712196	HepG2	liver:	n/a	n/a
10	REST	chr14:24711637-24712063	SK-N-SH	brain:	n/a	n/a
11	BACH1	chr14:24711198-24712077	H1-hESC	embryonic stem cell:	n/a	n/a
12	IRF1	chr14:24711434-24712402	K562	blood:	n/a	chr14:24711612-24711626 chr14:24712238-24712255
13	E2F6	chr14:24711364-24712565	A549	lung:	n/a	n/a
14	ETS1	chr14:24711315-24712304	GM12878	blood:	n/a	chr14:24711829-24711838 chr14:24711829-24711838 chr14:24711829-24711838 chr14:24711709-24711720 chr14:24711831-24711840 chr14:24711828-24711841 chr14:24711829-24711838 chr14:24711827-24711837 chr14:24711826-24711842 chr14:24711829-24711838
15	SIN3A	chr14:24711352-24712410	GM12878	blood:	n/a	chr14:24711940-24711948
16	POLR2A	chr14:24710787-24712578	SK-N-SH	brain:	n/a	n/a
17	MAX	chr14:24711228-24712481	MCF-7	breast:	n/a	n/a
18	POLR2A	chr14:24710876-24712663	Hela-S3	cervix:	n/a	n/a
19	USF1	chr14:24711642-24712059	A549	lung:	n/a	n/a
20	POLR2A	chr14:24710834-24712267	GM12891	blood:	n/a	n/a
21	PML	chr14:24711438-24712350	GM12878	blood:	n/a	n/a
22	GABPA	chr14:24711269-24712397	A549	lung:	n/a	n/a
23	TAF1	chr14:24711407-24712267	K562	blood:	n/a	n/a
24	TCF12	chr14:24711081-24712415	ECC-1	luminal epithelium:	n/a	n/a
25	POLR2A	chr14:24711438-24712201	HepG2	liver:	n/a	n/a
26	TCF12	chr14:24711617-24712165	A549	lung:	n/a	n/a
27	POLR2A	chr14:24711236-24712513	K562	blood:	n/a	n/a
28	PBX3	chr14:24711421-24712367	SK-N-SH	brain:	n/a	chr14:24711883-24711892
29	CTCF	chr14:24711366-24712572	GM12878	blood:	n/a	chr14:24712263-24712279 chr14:24712264-24712285 chr14:24712262-24712280 chr14:24711551-24711564
30	ELF1	chr14:24711461-24712197	SK-N-SH	brain:	n/a	chr14:24711830-24711839 chr14:24711542-24711554 chr14:24711554-24711563 chr14:24711829-24711840
31	IRF1	chr14:24711382-24712171	K562	blood:	n/a	chr14:24711612-24711626
32	TAF1	chr14:24711280-24712402	SK-N-SH	brain:	n/a	n/a
33	MYC	chr14:24711761-24712061	HUVEC	blood vessel:	n/a	n/a
34	RCOR1	chr14:24711453-24712336	GM12878	blood:	n/a	n/a
35	NFIC	chr14:24710989-24712714	HepG2	liver:	n/a	n/a
36	ATF2	chr14:24711291-24712324	GM12878	blood:	n/a	n/a
37	MAX	chr14:24711302-24712286	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr14:24711346-24712378	K562	blood:	n/a	n/a
39	POLR2A	chr14:24711254-24712238	HepG2	liver:	n/a	n/a
40	TEAD4	chr14:24711587-24712875	K562	blood:	n/a	n/a
41	JUND	chr14:24711620-24712065	H1-hESC	embryonic stem cell:	n/a	n/a
42	NFYA	chr14:24711618-24712077	GM12878	blood:	n/a	chr14:24711880-24711894 chr14:24711880-24711895 chr14:24711880-24711895 chr14:24711880-24711898
43	STAT1	chr14:24711289-24712299	GM12878	blood:	n/a	n/a
44	GABPA	chr14:24711318-24712400	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr14:24710821-24712380	GM12891	blood:	n/a	n/a
46	YY1	chr14:24711302-24712407	SK-N-SH_RA	brain:	n/a	n/a
47	CUX1	chr14:24711277-24711879	K562	blood:	n/a	n/a
48	POLR2A	chr14:24711097-24712581	H1-neurons	neurons:	n/a	n/a
49	RAD21	chr14:24711528-24712480	Hela-S3	cervix:	n/a	chr14:24712263-24712282
50	BCLAF1	chr14:24711520-24712458	GM12878	blood:	n/a	chr14:24711829-24711838

No.	Distal block	Cell Line	Cell type
1	chr14:24682906..24687740-chr14:24707883..24712855,6	K562	blood:
2	chr14:24682802..24685207-chr14:24711355..24714494,4	K562	blood:
3	chr14:24684885..24685587-chr14:24711527..24712286,2	MCF-7	breast:
4	chr14:24710306..24713162-chr14:24834355..24837181,3	MCF-7	breast:
5	chr14:24709552..24713134-chr14:24898718..24901467,5	MCF-7	breast:
6	chr14:24656097..24659538-chr14:24709665..24713530,7	MCF-7	breast:
7	chr14:24711516..24712198-chr6:160148048..160148962,2	Hela-S3	cervix:
8	chr14:24710202..24713274-chr14:24777163..24780691,4	K562	blood:
9	chr14:24710493..24713129-chr14:24782481..24785147,3	K562	blood:
10	chr14:24709885..24712495-chr14:24729167..24732182,3	K562	blood:
11	chr14:24709884..24713728-chr14:24799730..24804763,6	MCF-7	breast:
12	chr14:24711225..24713495-chr14:24896859..24899429,2	K562	blood:
13	chr1:152008944..152009610-chr14:24711499..24712286,2	Hela-S3	cervix:
14	chr14:24711500..24712020-chr5:170814829..170815392,2	Hela-S3	cervix:
15	chr14:24711577..24712274-chr21:36260664..36261322,2	Hela-S3	cervix:
16	chr14:24709335..24712189-chr14:24910783..24914037,3	K562	blood:
17	chr14:24711493..24712422-chr17:16342291..16342971,2	Hela-S3	cervix:
18	chr14:24709953..24714493-chr14:24766859..24769769,8	K562	blood:
19	chr14:24711658..24712290-chr19:16186474..16187326,2	Hela-S3	cervix:
20	chr14:24710331..24713124-chr14:24894765..24900704,5	MCF-7	breast:
21	chr14:24709953..24713670-chr14:24767111..24769746,6	K562	blood:
22	chr14:24710704..24713128-chr14:24738885..24741180,4	K562	blood:
23	chr12:53835093..53835625-chr14:24711759..24712290,2	Hela-S3	cervix:
24	chr14:24708551..24715320-chr14:24722643..24727115,8	K562	blood:
25	chr14:24710128..24713467-chr14:24737949..24741923,9	K562	blood:
26	chr14:24710626..24712809-chr14:24761699..24764407,2	K562	blood:

Variant related genes	Relation type
TINF2	TF binding region
ENSG00000163191	Chromatin interaction
ENSG00000196497	Chromatin interaction
ENSG00000260669	Chromatin interaction
ENSG00000254505	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000272658	Chromatin interaction
ENSG00000100968	Chromatin interaction
ENSG00000100949	Chromatin interaction
ENSG00000159216	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000167460	Chromatin interaction
ENSG00000213920	Chromatin interaction
ENSG00000213903	Chromatin interaction
ENSG00000092295	Chromatin interaction
ENSG00000181163	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000112096	Chromatin interaction
ENSG00000136305	Chromatin interaction
ENSG00000205352	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000146457	Chromatin interaction
ENSG00000197111	Chromatin interaction
ENSG00000175061	Chromatin interaction
ENSG00000213906	Chromatin interaction
ENSG00000100445	Chromatin interaction

rs_ID	r²[population]
rs11629429	1.00[AMR][1000 genomes]
rs12050101	1.00[AMR][1000 genomes]
rs2273305	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2295320	1.00[AMR][1000 genomes]
rs34655126	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3742506	0.85[ASN][1000 genomes]
rs3783441	1.00[AMR][1000 genomes]
rs41293830	0.89[ASN][1000 genomes]
rs41293836	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4981498	1.00[EUR][1000 genomes]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24710000-24712800	Active TSS	Psoas Muscle	Psoas
2	chr14:24710400-24712800	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr14:24710400-24712800	Active TSS	HSMMtube	muscle
4	chr14:24710600-24712400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr14:24710600-24712600	Active TSS	NHLF	lung
6	chr14:24710600-24712800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:24710600-24712800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:24710600-24712800	Active TSS	Esophagus	oesophagus
9	chr14:24710600-24712800	Active TSS	NHDF-Ad	bronchial
10	chr14:24710600-24713000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr14:24710600-24713200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:24710800-24712400	Active TSS	Brain Germinal Matrix	brain
13	chr14:24710800-24712600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr14:24710800-24712600	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr14:24710800-24712600	Active TSS	Duodenum Smooth Muscle	Duodenum
16	chr14:24710800-24712600	Active TSS	Fetal Brain Female	brain
17	chr14:24710800-24712600	Active TSS	Left Ventricle	heart
18	chr14:24710800-24712600	Active TSS	Lung	lung
19	chr14:24710800-24712800	Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr14:24710800-24712800	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr14:24710800-24712800	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr14:24710800-24712800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr14:24710800-24712800	Active TSS	A549	lung
24	chr14:24710800-24713000	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr14:24710800-24713000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:24711000-24711800	Flanking Bivalent TSS/Enh	HepG2	liver
27	chr14:24711000-24712200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:24711000-24712200	Active TSS	Gastric	stomach
29	chr14:24711000-24712200	Active TSS	Ovary	ovary
30	chr14:24711000-24712200	Active TSS	Spleen	Spleen
31	chr14:24711000-24712400	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:24711000-24712400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:24711000-24712600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:24711000-24712600	Active TSS	H9 Cell Line	embryonic stem cell
35	chr14:24711000-24712600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr14:24711000-24712600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:24711000-24712600	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr14:24711000-24712600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr14:24711000-24712600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:24711000-24712600	Active TSS	Small Intestine	intestine
41	chr14:24711000-24712800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:24711000-24712800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr14:24711000-24712800	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr14:24711000-24713200	Active TSS	Aorta	Aorta
45	chr14:24711200-24712000	Active TSS	Muscle Satellite Cultured Cells	--
46	chr14:24711200-24712200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr14:24711200-24712200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
48	chr14:24711200-24712200	Active TSS	Fetal Heart	heart
49	chr14:24711200-24712400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr14:24711200-24712400	Active TSS	Brain Substantia Nigra	brain

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