Variant report

Variant	rs1952495
Chromosome Location	chr14:25519106-25519107
allele	A/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	HDAC2	chr14:25518726-25519692	HepG2	liver:	n/a	n/a
2	TCF12	chr14:25518813-25519643	ECC-1	luminal epithelium:	n/a	n/a
3	MYC	chr14:25519104-25519188	HepG2	liver:	n/a	n/a
4	MAX	chr14:25518781-25519565	ECC-1	luminal epithelium:	n/a	n/a
5	MAZ	chr14:25519001-25519437	HepG2	liver:	n/a	n/a
6	HEY1	chr14:25519056-25519692	HepG2	liver:	n/a	chr14:25519109-25519124 chr14:25519376-25519391 chr14:25519228-25519243 chr14:25519153-25519168
7	TAF1	chr14:25518958-25519604	ECC-1	luminal epithelium:	n/a	n/a
8	MAX	chr14:25518837-25519554	A549	lung:	n/a	n/a
9	HDAC2	chr14:25518825-25519714	MCF-7	breast:	n/a	chr14:25519699-25519713 chr14:25519700-25519714
10	ZBTB7A	chr14:25518993-25519653	HepG2	liver:	n/a	chr14:25519548-25519556
11	RAD21	chr14:25519038-25519506	H1-hESC	embryonic stem cell:	n/a	chr14:25519150-25519163
12	CEBPD	chr14:25518938-25519662	HepG2	liver:	n/a	n/a
13	MAX	chr14:25518847-25519950	HepG2	liver:	n/a	n/a
14	REST	chr14:25519084-25519660	HepG2	liver:	n/a	chr14:25519201-25519215 chr14:25519203-25519213 chr14:25519198-25519211 chr14:25519152-25519162
15	POLR2A	chr14:25518959-25519525	HepG2	liver:	n/a	n/a
16	POLR2A	chr14:25518792-25519653	ECC-1	luminal epithelium:	n/a	n/a
17	ARID3A	chr14:25519099-25519144	HepG2	liver:	n/a	n/a
18	E2F6	chr14:25518820-25519534	A549	lung:	n/a	chr14:25519256-25519264 chr14:25519257-25519264 chr14:25519257-25519264 chr14:25518993-25519003 chr14:25519256-25519264 chr14:25519257-25519264 chr14:25519255-25519265 chr14:25519235-25519244 chr14:25519256-25519265 chr14:25519253-25519264 chr14:25519254-25519265
19	MYC	chr14:25518888-25519171	H1-hESC	embryonic stem cell:	n/a	n/a
20	MYBL2	chr14:25519106-25520004	HepG2	liver:	n/a	n/a
21	MAX	chr14:25518123-25519488	ECC-1	luminal epithelium:	n/a	n/a
22	MAX	chr14:25518736-25519627	A549	lung:	n/a	n/a
23	MAX	chr14:25518219-25519528	H1-hESC	embryonic stem cell:	n/a	n/a
24	SIN3A	chr14:25518677-25519819	H1-hESC	embryonic stem cell:	n/a	chr14:25519204-25519213 chr14:25519156-25519169 chr14:25519303-25519312
25	MAX	chr14:25518226-25519981	HepG2	liver:	n/a	n/a
26	NFIC	chr14:25518781-25519469	ECC-1	luminal epithelium:	n/a	n/a
27	BHLHE40	chr14:25518980-25519578	HepG2	liver:	n/a	chr14:25519094-25519110 chr14:25519236-25519252
28	E2F6	chr14:25518172-25519570	H1-hESC	embryonic stem cell:	n/a	chr14:25519256-25519264 chr14:25519257-25519264 chr14:25519257-25519264 chr14:25518993-25519003 chr14:25519256-25519264 chr14:25519257-25519264 chr14:25519255-25519265 chr14:25519235-25519244 chr14:25519256-25519265 chr14:25519253-25519264 chr14:25519254-25519265
29	MXI1	chr14:25518925-25519151	H1-hESC	embryonic stem cell:	n/a	n/a
30	MAX	chr14:25518128-25519296	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr14:25519051-25519630	HepG2	liver:	n/a	n/a
32	TAF1	chr14:25519065-25519420	H1-hESC	embryonic stem cell:	n/a	n/a
33	ZBTB7A	chr14:25518292-25519799	ECC-1	luminal epithelium:	n/a	chr14:25519548-25519556
34	MYBL2	chr14:25518638-25519804	HepG2	liver:	n/a	n/a
35	CCNT2	chr14:25519078-25519498	K562	blood:	n/a	chr14:25519458-25519467 chr14:25519465-25519474 chr14:25519270-25519279
36	MAX	chr14:25518842-25519602	MCF-7	breast:	n/a	n/a
37	ZBTB7A	chr14:25518324-25519774	ECC-1	luminal epithelium:	n/a	chr14:25519548-25519556
38	CTBP2	chr14:25517904-25519875	H1-hESC	embryonic stem cell:	n/a	n/a
39	HDAC2	chr14:25518678-25519661	HepG2	liver:	n/a	n/a
40	MXI1	chr14:25519058-25519372	GM12878	blood:	n/a	n/a
41	RAD21	chr14:25518940-25519352	IMR90	lung:	n/a	chr14:25519150-25519163
42	POLR2A	chr14:25519028-25519121	MCF-7	breast:	n/a	n/a
43	POLR2A	chr14:25518986-25519123	MCF-7	breast:	n/a	n/a
44	POLR2A	chr14:25518982-25519666	HepG2	liver:	n/a	n/a
45	MYC	chr14:25518969-25519156	MCF-7	breast:	n/a	n/a
46	MAX	chr14:25518134-25519551	H1-hESC	embryonic stem cell:	n/a	n/a
47	MAX	chr14:25518249-25519915	HepG2	liver:	n/a	n/a
48	RAD21	chr14:25519093-25519640	HepG2	liver:	n/a	chr14:25519150-25519163
49	MAX	chr14:25518921-25519385	GM12878	blood:	n/a	n/a
50	HEY1	chr14:25519073-25519550	HepG2	liver:	n/a	chr14:25519109-25519124 chr14:25519376-25519391 chr14:25519228-25519243 chr14:25519153-25519168

Variant related genes	Relation type
STXBP6	TF binding region

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11626133	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11627702	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17257780	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1952494	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1958384	0.93[ASN][1000 genomes]
rs1958386	0.93[ASN][1000 genomes]
rs2332464	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7142942	0.93[ASN][1000 genomes]
rs7151656	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7151785	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs726519	0.93[ASN][1000 genomes]
rs8007052	0.93[ASN][1000 genomes]
rs8020392	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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
3	nsv901504	chr14:25184210-25646203	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv901509	chr14:25398571-25743484	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv901510	chr14:25476170-25526309	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
6	nsv901511	chr14:25505085-25588029	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:25517000-25520000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:25517200-25519800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr14:25517200-25520000	Active TSS	Stomach Mucosa	stomach
4	chr14:25517200-25520200	Active TSS	NHLF	lung
5	chr14:25517200-25520400	Active TSS	Right Ventricle	heart
6	chr14:25517400-25520000	Active TSS	Left Ventricle	heart
7	chr14:25517400-25520000	Active TSS	Right Atrium	heart
8	chr14:25517400-25520200	Active TSS	Pancreatic Islets	Pancreatic Islet
9	chr14:25517600-25519200	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr14:25517600-25519400	Active TSS	Lung	lung
11	chr14:25517600-25520000	Active TSS	Placenta	Placenta
12	chr14:25517600-25520000	Active TSS	Rectal Smooth Muscle	rectum
13	chr14:25517800-25519200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr14:25517800-25519600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
15	chr14:25517800-25519600	Active TSS	Brain Cingulate Gyrus	brain
16	chr14:25517800-25519600	Active TSS	Gastric	stomach
17	chr14:25517800-25519800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
18	chr14:25517800-25519800	Active TSS	Brain Anterior Caudate	brain
19	chr14:25517800-25519800	Active TSS	Brain Hippocampus Middle	brain
20	chr14:25517800-25519800	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr14:25517800-25519800	Active TSS	Brain Substantia Nigra	brain
22	chr14:25517800-25519800	Active TSS	Colon Smooth Muscle	Colon
23	chr14:25517800-25519800	Active TSS	Pancreas	Pancrea
24	chr14:25517800-25519800	Active TSS	Stomach Smooth Muscle	stomach
25	chr14:25517800-25519800	Active TSS	HSMMtube	muscle
26	chr14:25517800-25520000	Active TSS	Placenta Amnion	Placenta Amnion
27	chr14:25518000-25519200	Flanking Bivalent TSS/Enh	HepG2	liver
28	chr14:25518000-25519600	Active TSS	Small Intestine	intestine
29	chr14:25518000-25519800	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr14:25518000-25519800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr14:25518000-25519800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr14:25518000-25519800	Active TSS	Brain Angular Gyrus	brain
33	chr14:25518000-25520000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
34	chr14:25518000-25520000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
35	chr14:25518000-25520000	Bivalent/Poised TSS	Thymus	Thymus
36	chr14:25518000-25520000	Active TSS	NHDF-Ad	bronchial
37	chr14:25518200-25519200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
38	chr14:25518200-25519200	Bivalent/Poised TSS	Fetal Intestine Large	intestine
39	chr14:25518200-25519400	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
40	chr14:25518200-25519600	Active TSS	Esophagus	oesophagus
41	chr14:25518200-25519800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
42	chr14:25518200-25519800	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr14:25518200-25519800	Active TSS	Duodenum Mucosa	Duodenum
44	chr14:25518200-25520000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr14:25518200-25520000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
46	chr14:25518200-25520000	Flanking Active TSS	Liver	Liver
47	chr14:25518200-25520200	Active TSS	Aorta	Aorta
48	chr14:25518200-25520200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
49	chr14:25518400-25519200	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
50	chr14:25518400-25519200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain

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