Variant report

Variant	rs55876724
Chromosome Location	chr14:69258529-69258530
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	TCF7L2	chr14:69258229-69258605	HCT-116	colon:	n/a	chr14:69258398-69258412 chr14:69258400-69258409 chr14:69258397-69258413 chr14:69258397-69258413
2	POLR2A	chr14:69250963-69263207	U87	brain:	n/a	n/a
3	CHD2	chr14:69258147-69259199	H1-hESC	embryonic stem cell:	n/a	chr14:69258897-69258907 chr14:69258373-69258383 chr14:69259118-69259128
4	PBX3	chr14:69258047-69262185	A549	lung:	n/a	n/a
5	SMC3	chr14:69258424-69258542	K562	blood:	n/a	n/a
6	POLR2A	chr14:69258369-69259894	GM12891	blood:	n/a	n/a
7	POLR2A	chr14:69254988-69263278	GM12892	blood:	n/a	n/a
8	POLR2A	chr14:69255614-69263201	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr14:69254928-69263445	GM12892	blood:	n/a	n/a
10	POLR2A	chr14:69257221-69263637	MCF10A-Er-Src	breast:	n/a	n/a
11	MTA3	chr14:69254975-69264454	GM12878	blood:	n/a	n/a
12	POLR2A	chr14:69257126-69263442	GM12891	blood:	n/a	n/a
13	HDAC2	chr14:69257848-69261541	MCF-7	breast:	n/a	chr14:69260034-69260048 chr14:69260037-69260051 chr14:69260032-69260046 chr14:69260036-69260050 chr14:69258035-69258049 chr14:69260118-69260127 chr14:69260038-69260052 chr14:69258424-69258438 chr14:69260039-69260053 chr14:69260035-69260049 chr14:69258425-69258439
14	FOXM1	chr14:69257771-69260503	MCF-7	breast:	n/a	n/a
15	POLR2A	chr14:69258265-69258828	HepG2	liver:	n/a	n/a
16	POLR2A	chr14:69256736-69263833	Raji	blood:	n/a	n/a
17	POLR2A	chr14:69255146-69263257	GM18526	blood:	n/a	n/a
18	SIN3AK20	chr14:69258284-69258938	A549	lung:	n/a	n/a
19	HEY1	chr14:69257251-69263120	HepG2	liver:	n/a	chr14:69260559-69260574 chr14:69260178-69260187 chr14:69260176-69260185
20	NFATC1	chr14:69255663-69260669	GM12878	blood:	n/a	n/a
21	POLR2A	chr14:69252481-69263392	GM18505	blood:	n/a	n/a
22	ZKSCAN1	chr14:69258450-69258680	Hela-S3	cervix:	n/a	n/a
23	STAT5A	chr14:69257966-69260119	GM12878	blood:	n/a	chr14:69259835-69259847 chr14:69258037-69258048 chr14:69259312-69259324 chr14:69259829-69259841 chr14:69259935-69259947 chr14:69259443-69259451 chr14:69258897-69258909 chr14:69258124-69258135
24	ETS1	chr14:69257905-69258707	A549	lung:	n/a	n/a
25	EP300	chr14:69258422-69258804	T-47D	breast:	n/a	n/a
26	CHD2	chr14:69258414-69263620	Hela-S3	cervix:	n/a	chr14:69258897-69258907 chr14:69261411-69261421 chr14:69259834-69259844 chr14:69261032-69261042 chr14:69259118-69259128
27	POLR2A	chr14:69258507-69258656	A549	lung:	n/a	n/a
28	POLR2A	chr14:69250890-69259922	A549	lung:	n/a	n/a
29	POLR2A	chr14:69258329-69262795	SK-N-MC	brain:	n/a	n/a
30	SP1	chr14:69258067-69258559	H1-hESC	embryonic stem cell:	n/a	chr14:69258373-69258385 chr14:69258370-69258384 chr14:69258098-69258112 chr14:69258373-69258385 chr14:69258374-69258383
31	POLR2A	chr14:69254922-69263025	HUVEC	blood vessel:	n/a	n/a
32	BCL3	chr14:69255275-69258942	A549	lung:	n/a	n/a
33	RUNX3	chr14:69256419-69263509	GM12878	blood:	n/a	n/a
34	POLR2A	chr14:69251221-69263347	U87	brain:	n/a	n/a
35	POLR2A	chr14:69256682-69263552	HepG2	liver:	n/a	n/a
36	POLR2A	chr14:69255405-69263158	MCF-7	breast:	n/a	n/a
37	TCF7L2	chr14:69258058-69258691	Hela-S3	cervix:	n/a	chr14:69258398-69258412 chr14:69258400-69258409 chr14:69258397-69258413 chr14:69258397-69258413
38	POLR2A	chr14:69254889-69263164	HUVEC	blood vessel:	n/a	n/a
39	POLR2A	chr14:69255690-69263291	PANC-1	pancreas:	n/a	n/a
40	TFAP2C	chr14:69258186-69258802	Hela-S3	cervix:	n/a	chr14:69258569-69258584
41	POLR2A	chr14:69255224-69263246	GM19193	blood:	n/a	n/a
42	POLR2A	chr14:69257288-69264495	PBDE	blood:	n/a	n/a
43	BCLAF1	chr14:69258400-69259924	GM12878	blood:	n/a	chr14:69259582-69259591 chr14:69259334-69259347
44	POLR2A	chr14:69258376-69258657	A549	lung:	n/a	n/a
45	POLR2A	chr14:69255652-69261985	HCT-116	colon:	n/a	n/a
46	NFIC	chr14:69258048-69258728	GM12878	blood:	n/a	n/a
47	TAF1	chr14:69258364-69260769	MCF-7	breast:	n/a	n/a
48	POLR2A	chr14:69255300-69263602	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr14:69257243-69263239	Hela-S3	cervix:	n/a	n/a
50	MAX	chr14:69258001-69261937	MCF-7	breast:	n/a	chr14:69258371-69258381

No.	Distal block	Cell Line	Cell type
1	chr14:69090615..69103406-chr14:69249821..69264188,29	MCF-7	breast:
2	chr14:69235719..69238607-chr14:69258335..69259856,2	MCF-7	breast:
3	chr14:68915233..68917700-chr14:69258123..69259734,2	K562	blood:
4	chr14:68350452..68352881-chr14:69258194..69261622,3	MCF-7	breast:
5	chr14:68930492..68947840-chr14:69251918..69264148,62	MCF-7	breast:
6	chr14:69149566..69152941-chr14:69256310..69260478,3	MCF-7	breast:
7	chr14:68282145..68286888-chr14:69256784..69261104,5	MCF-7	breast:
8	chr14:69257700..69260072-chr17:1618563..1621459,2	MCF-7	breast:
9	chr14:69091753..69104091-chr14:69256141..69263760,20	MCF-7	breast:
10	chr14:69258203..69260706-chr17:56707780..56709362,2	MCF-7	breast:
11	chr14:68352272..68355022-chr14:69258244..69262334,3	MCF-7	breast:
12	chr14:69258435..69258964-chr3:150480744..150481394,2	Hela-S3	cervix:
13	chr14:69208318..69211269-chr14:69258281..69259846,2	MCF-7	breast:
14	chr14:55595591..55597639-chr14:69257922..69259895,2	MCF-7	breast:

Variant related genes	Relation type
ZFP36L1	TF binding region
ENSG00000259038	Chromatin interaction
ENSG00000181788	Chromatin interaction
ENSG00000182185	Chromatin interaction
ENSG00000258623	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000131981	Chromatin interaction
ENSG00000186594	Chromatin interaction
ENSG00000072121	Chromatin interaction
ENSG00000167716	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs28523846	0.86[ASN][1000 genomes]
rs4902645	0.85[AMR][1000 genomes]
rs59525232	1.00[ASN][1000 genomes]
rs59745064	1.00[ASN][1000 genomes]
rs60594327	1.00[ASN][1000 genomes]
rs7142703	0.85[AMR][1000 genomes]
rs73279125	1.00[ASN][1000 genomes]
rs74060134	0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902070	chr14:69244214-69308182	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69253600-69258600	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:69253600-69258600	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
3	chr14:69253800-69258800	Transcr. at gene 5' and 3'	A549	lung
4	chr14:69253800-69258800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
5	chr14:69253800-69259800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
6	chr14:69254000-69258800	Transcr. at gene 5' and 3'	NHLF	lung
7	chr14:69254000-69259600	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
8	chr14:69254200-69259600	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
9	chr14:69254200-69259600	Transcr. at gene 5' and 3'	Fetal Lung	lung
10	chr14:69254200-69259800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:69255000-69258600	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
12	chr14:69255000-69258600	Transcr. at gene 5' and 3'	Adipose Nuclei	Adipose
13	chr14:69255000-69258600	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
14	chr14:69255000-69258800	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:69255000-69258800	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
16	chr14:69255000-69259200	Transcr. at gene 5' and 3'	HSMM	muscle
17	chr14:69255000-69259600	Transcr. at gene 5' and 3'	Rectal Smooth Muscle	rectum
18	chr14:69255000-69259800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:69255000-69260400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
20	chr14:69255000-69262400	Active TSS	Right Atrium	heart
21	chr14:69255200-69258600	Transcr. at gene 5' and 3'	Colon Smooth Muscle	Colon
22	chr14:69255200-69258600	Transcr. at gene 5' and 3'	Placenta	Placenta
23	chr14:69255200-69258800	Transcr. at gene 5' and 3'	Duodenum Smooth Muscle	Duodenum
24	chr14:69255200-69259000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:69255200-69259400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
26	chr14:69255400-69259000	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
27	chr14:69255400-69259400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:69255400-69259400	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
29	chr14:69255400-69259800	Transcr. at gene 5' and 3'	NHEK	skin
30	chr14:69255400-69263200	Active TSS	Pancreatic Islets	Pancreatic Islet
31	chr14:69255600-69258600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:69255600-69258800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr14:69255600-69258800	Transcr. at gene 5' and 3'	Primary mononuclear cells fromperipheralblood	Blood
34	chr14:69255800-69258600	Transcr. at gene 5' and 3'	Placenta Amnion	Placenta Amnion
35	chr14:69255800-69259200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr14:69255800-69259400	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
37	chr14:69255800-69259600	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
38	chr14:69255800-69259800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
39	chr14:69256000-69258600	Transcr. at gene 5' and 3'	Colonic Mucosa	Colon
40	chr14:69256000-69258600	Transcr. at gene 5' and 3'	Esophagus	oesophagus
41	chr14:69256000-69258800	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
42	chr14:69256000-69259200	Transcr. at gene 5' and 3'	Stomach Mucosa	stomach
43	chr14:69256200-69258800	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:69256200-69263000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr14:69256400-69259600	Active TSS	Brain Anterior Caudate	brain
46	chr14:69256400-69263200	Active TSS	Primary T cells from cord blood	blood
47	chr14:69256600-69260600	Active TSS	NH-A	brain
48	chr14:69256600-69263000	Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr14:69256800-69258800	Transcr. at gene 5' and 3'	ES-I3 Cell Line	embryonic stem cell
50	chr14:69256800-69259800	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain

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