Variant report

Variant	rs72728266
Chromosome Location	chr14:65510025-65510026
allele	A/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	GATA2	chr14:65509699-65510199	K562	blood:	n/a	chr14:65509999-65510020
2	MYC	chr14:65509364-65510223	K562	blood:	n/a	chr14:65509420-65509429
3	TEAD4	chr14:65509030-65510317	K562	blood:	n/a	n/a
4	ARID3A	chr14:65509484-65510224	K562	blood:	n/a	n/a
5	MAZ	chr14:65509389-65510168	K562	blood:	n/a	chr14:65509420-65509429
6	POLR2A	chr14:65509715-65510112	K562	blood:	n/a	n/a
7	IRF1	chr14:65509394-65510169	K562	blood:	n/a	chr14:65509892-65509912
8	STAT5A	chr14:65509717-65510188	K562	blood:	n/a	n/a
9	UBTF	chr14:65509452-65510125	K562	blood:	n/a	n/a
10	IRF1	chr14:65509762-65510076	K562	blood:	n/a	chr14:65509892-65509912
11	TEAD4	chr14:65509544-65510261	K562	blood:	n/a	n/a
12	IRF1	chr14:65509071-65510189	K562	blood:	n/a	chr14:65509892-65509912
13	ELF1	chr14:65509589-65510033	K562	blood:	n/a	chr14:65509808-65509821 chr14:65509809-65509820
14	NR2F2	chr14:65509648-65510190	K562	blood:	n/a	n/a
15	REST	chr14:65509750-65510092	K562	blood:	n/a	n/a
16	POLR2A	chr14:65509730-65510112	K562	blood:	n/a	n/a
17	EP300	chr14:65509207-65510231	K562	blood:	n/a	chr14:65509811-65509820
18	GABPA	chr14:65509661-65510139	K562	blood:	n/a	n/a
19	HDAC2	chr14:65509742-65510027	K562	blood:	n/a	n/a
20	TAL1	chr14:65509110-65510242	K562	blood:	n/a	n/a
21	PML	chr14:65509505-65510309	K562	blood:	n/a	chr14:65509538-65509546
22	GATA1	chr14:65509245-65510254	PBDE	blood:	n/a	chr14:65509999-65510020
23	MAX	chr14:65509468-65510202	K562	blood:	n/a	n/a
24	TBL1XR1	chr14:65509495-65510189	K562	blood:	n/a	n/a
25	GATA2	chr14:65509439-65510199	K562	blood:	n/a	chr14:65509999-65510020
26	BHLHE40	chr14:65509556-65510192	K562	blood:	n/a	n/a
27	CUX1	chr14:65509491-65510172	K562	blood:	n/a	n/a
28	USF2	chr14:65509991-65510095	GM12878	blood:	n/a	n/a
29	TBL1XR1	chr14:65509683-65510130	K562	blood:	n/a	n/a
30	ATF1	chr14:65509386-65510213	K562	blood:	n/a	n/a
31	MYC	chr14:65509335-65510157	K562	blood:	n/a	chr14:65509420-65509429
32	CEBPD	chr14:65509624-65510224	K562	blood:	n/a	n/a
33	RCOR1	chr14:65509694-65510205	K562	blood:	n/a	n/a
34	CCNT2	chr14:65509476-65510380	K562	blood:	n/a	n/a
35	JUND	chr14:65509414-65510221	K562	blood:	n/a	n/a
36	HMGN3	chr14:65509789-65510144	K562	blood:	n/a	n/a
37	STAT5A	chr14:65509640-65510251	K562	blood:	n/a	n/a
38	POLR2A	chr14:65509614-65510188	K562	blood:	n/a	n/a
39	POLR2A	chr14:65509663-65510073	K562	blood:	n/a	n/a
40	POLR2A	chr14:65509577-65510176	K562	blood:	n/a	n/a
41	GATA1	chr14:65509144-65510247	K562	blood:	n/a	chr14:65509999-65510020
42	CEBPB	chr14:65509626-65510190	K562	blood:	n/a	n/a
43	GATA1	chr14:65509807-65510134	PBDEFetal	blood:	n/a	chr14:65509999-65510020
44	NR2F2	chr14:65509064-65510223	K562	blood:	n/a	n/a
45	TRIM28	chr14:65509558-65510267	K562	blood:	n/a	n/a
46	TRIM28	chr14:65509732-65510196	K562	blood:	n/a	n/a
47	PML	chr14:65509468-65510269	K562	blood:	n/a	chr14:65509538-65509546
48	REST	chr14:65509805-65510045	K562	blood:	n/a	n/a
49	CEBPD	chr14:65509663-65510282	K562	blood:	n/a	n/a
50	EP300	chr14:65509420-65510101	K562	blood:	n/a	chr14:65509811-65509820

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65474366..65476502-chr14:65508213..65510075,2	K562	blood:
2	chr14:65452135..65454691-chr14:65508456..65511236,2	K562	blood:

Variant related genes	Relation type
MIR4706	TF binding region
ENSG00000257365	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2296322	0.90[EUR][1000 genomes]
rs45563031	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45565742	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55771504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55918235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55941898	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56197624	0.90[EUR][1000 genomes]
rs56323926	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs72728238	1.00[AFR][1000 genomes]
rs72728241	1.00[AFR][1000 genomes]
rs72728245	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72728253	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728257	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728258	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728261	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728263	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728264	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72728268	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832816	chr14:65473244-65644645	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65454800-65513800	Weak transcription	Stomach Mucosa	stomach
2	chr14:65464400-65521200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:65470400-65539600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr14:65471200-65546200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr14:65473800-65513800	Weak transcription	HMEC	breast
6	chr14:65483400-65528000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr14:65489200-65514000	Weak transcription	Small Intestine	intestine
8	chr14:65493000-65521400	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr14:65496400-65513000	Strong transcription	Fetal Intestine Small	intestine
10	chr14:65496400-65515400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr14:65496800-65521200	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr14:65501600-65513800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr14:65501800-65543200	Weak transcription	Fetal Brain Male	brain
14	chr14:65502000-65521200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr14:65502200-65512800	Weak transcription	Psoas Muscle	Psoas
16	chr14:65502200-65515800	Strong transcription	Fetal Muscle Leg	muscle
17	chr14:65502400-65523400	Weak transcription	Right Atrium	heart
18	chr14:65505800-65513400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr14:65505800-65515600	Strong transcription	Fetal Stomach	stomach
20	chr14:65506000-65512000	Strong transcription	Fetal Muscle Trunk	muscle
21	chr14:65506000-65518000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr14:65506600-65515600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr14:65506800-65515600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr14:65507000-65512200	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr14:65507200-65510200	Strong transcription	A549	lung
26	chr14:65507200-65511800	Strong transcription	Stomach Smooth Muscle	stomach
27	chr14:65507200-65512000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:65507200-65512000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr14:65507200-65512000	Strong transcription	Skeletal Muscle Female	skeletal muscle
30	chr14:65507200-65512600	Strong transcription	Fetal Lung	lung
31	chr14:65507200-65512800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr14:65507400-65510600	Strong transcription	Left Ventricle	heart
33	chr14:65507400-65511000	Strong transcription	Adipose Nuclei	Adipose
34	chr14:65507400-65511400	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr14:65507400-65511400	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr14:65507400-65511400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:65507400-65511400	Strong transcription	Dnd41	blood
38	chr14:65507400-65511600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:65507400-65511600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr14:65507400-65511600	Strong transcription	Gastric	stomach
41	chr14:65507400-65512000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr14:65507400-65512000	Strong transcription	Primary T helper cells fromperipheralblood	blood
43	chr14:65507400-65512000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr14:65507400-65512000	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr14:65507400-65512000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr14:65507400-65512000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr14:65507400-65512600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr14:65507400-65512600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr14:65507400-65512600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:65507400-65512600	Strong transcription	Placenta Amnion	Placenta Amnion

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