Variant report

Variant	rs7146752
Chromosome Location	chr14:55738907-55738908
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:185)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:185 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr14:55737562-55739249	GM12878	blood:	n/a	chr14:55738814-55738827 chr14:55738064-55738077 chr14:55738846-55738859
2	ATF2	chr14:55738582-55739097	GM12878	blood:	n/a	n/a
3	BCLAF1	chr14:55738676-55739262	GM12878	blood:	n/a	n/a
4	TBL1XR1	chr14:55738656-55739184	K562	blood:	n/a	n/a
5	SIN3AK20	chr14:55738559-55739001	SK-N-SH	brain:	n/a	n/a
6	CEBPB	chr14:55738722-55738924	HepG2	liver:	n/a	n/a
7	STAT3	chr14:55738851-55739026	MCF10A-Er-Src	breast:	n/a	n/a
8	ZBTB7A	chr14:55737736-55738939	ECC-1	luminal epithelium:	n/a	chr14:55738001-55738010
9	POLR2A	chr14:55737768-55739018	GM18951	blood:	n/a	n/a
10	MAZ	chr14:55738615-55738946	Hela-S3	cervix:	n/a	n/a
11	CHD2	chr14:55737715-55739000	GM12878	blood:	n/a	chr14:55738328-55738338 chr14:55738641-55738651
12	TBP	chr14:55738523-55738975	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr14:55738510-55738947	GM12891	blood:	n/a	n/a
14	CBX3	chr14:55738633-55739015	K562	blood:	n/a	n/a
15	POLR2A	chr14:55738544-55738917	SK-N-SH	brain:	n/a	n/a
16	CCNT2	chr14:55737795-55738938	K562	blood:	n/a	chr14:55738031-55738040 chr14:55738330-55738339
17	CTCF	chr14:55737341-55739139	SK-N-SH	brain:	n/a	chr14:55737993-55738011 chr14:55737996-55738009 chr14:55737994-55738010 chr14:55738332-55738345 chr14:55737996-55738009
18	POLR2A	chr14:55737861-55739000	GM19193	blood:	n/a	n/a
19	POLR2A	chr14:55738398-55739026	SK-N-MC	brain:	n/a	n/a
20	MAX	chr14:55737628-55739204	A549	lung:	n/a	n/a
21	POLR2A	chr14:55738393-55739024	H1-neurons	neurons:	n/a	n/a
22	POLR2A	chr14:55737811-55739038	MCF-7	breast:	n/a	n/a
23	HEY1	chr14:55738395-55738959	K562	blood:	n/a	chr14:55738849-55738858 chr14:55738815-55738824 chr14:55738847-55738856
24	TAF1	chr14:55738372-55738930	H1-hESC	embryonic stem cell:	n/a	n/a
25	EP300	chr14:55738636-55738984	K562	blood:	n/a	chr14:55738938-55738947
26	ZMIZ1	chr14:55738580-55739009	K562	blood:	n/a	n/a
27	POU2F2	chr14:55738450-55739018	GM12878	blood:	n/a	n/a
28	CREB1	chr14:55738447-55739041	K562	blood:	n/a	chr14:55738814-55738827 chr14:55738846-55738859
29	BHLHE40	chr14:55738725-55738966	K562	blood:	n/a	n/a
30	POLR2A	chr14:55737805-55738932	GM19099	blood:	n/a	n/a
31	MAZ	chr14:55737733-55739071	K562	blood:	n/a	n/a
32	CEBPB	chr14:55738590-55739142	Hela-S3	cervix:	n/a	chr14:55739006-55739019
33	MAX	chr14:55738538-55738982	K562	blood:	n/a	n/a
34	MAX	chr14:55738606-55739024	K562	blood:	n/a	n/a
35	CREB1	chr14:55738609-55739011	A549	lung:	n/a	chr14:55738814-55738827 chr14:55738846-55738859
36	UBTF	chr14:55737797-55739017	K562	blood:	n/a	n/a
37	POLR2A	chr14:55737702-55738959	NB4	blood:	n/a	n/a
38	POLR2A	chr14:55737552-55739152	H1-hESC	embryonic stem cell:	n/a	n/a
39	CREB1	chr14:55738386-55739066	H1-hESC	embryonic stem cell:	n/a	chr14:55738814-55738827 chr14:55738846-55738859
40	POLR2A	chr14:55737704-55739046	Hela-S3	cervix:	n/a	n/a
41	CREB1	chr14:55737652-55739153	HepG2	liver:	n/a	chr14:55738814-55738827 chr14:55738064-55738077 chr14:55738846-55738859
42	POLR2A	chr14:55738399-55738981	HCT-116	colon:	n/a	n/a
43	POLR2A	chr14:55738627-55738972	U87	brain:	n/a	n/a
44	POLR2A	chr14:55737676-55739051	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr14:55737698-55738976	IMR90	lung:	n/a	n/a
46	BRCA1	chr14:55738499-55739046	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr14:55737805-55738984	K562	blood:	n/a	n/a
48	CTCF	chr14:55738800-55738950	HCPEpiC	choroid plexus:	n/a	n/a
49	CHD1	chr14:55738641-55739203	GM12878	blood:	n/a	chr14:55738641-55738651
50	CREB1	chr14:55737609-55739283	K562	blood:	n/a	chr14:55738814-55738827 chr14:55738064-55738077 chr14:55738846-55738859

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:55738888-55738938	Jurkat	blood:	n/a
2	chr14:55738888-55738938	HMEC	breast:	n/a
3	chr14:55738888-55738938	NHDF-neo	bronchial:	n/a
4	chr14:55738888-55738938	MCF10A-Er-Src	breast:	n/a
5	chr14:55738888-55738938	CMK	blood:	n/a
6	chr14:55738888-55738938	NB4	blood:	n/a
7	chr14:55738888-55738938	Caco-2	colon:	n/a
8	chr14:55738888-55738938	RPTEC	kidney:	n/a
9	chr14:55738888-55738938	HEK293	kidney:	embryo
10	chr14:55738888-55738938	AG04450	lung:	fetal
11	chr14:55738888-55738938	HAEpiC	amniotic membrane:	n/a
12	chr14:55738888-55738938	SK-N-SH_RA	brain:	n/a
13	chr14:55738888-55738938	H1-hESC	embryonic stem cell:	embryo
14	chr14:55738888-55738938	HCM	heart:	n/a
15	chr14:55738888-55738938	K562	blood:	n/a
16	chr14:55738888-55738938	T-47D	breast:	n/a
17	chr14:55738888-55738938	GM12891	blood:	n/a
18	chr14:55738888-55738938	LNCaP	prostate:	n/a
19	chr14:55738888-55738938	A549	lung:	n/a
20	chr14:55738888-55738938	ovcar-3	ovarian:	n/a
21	chr14:55738888-55738938	BJ	skin:	n/a
22	chr14:55738888-55738938	SAEC	small airway:	n/a
23	chr14:55738888-55738938	HEEpiC	esophagus:	n/a
24	chr14:55738888-55738938	GM12892	blood:	n/a
25	chr14:55738888-55738938	NT2-D1	testis:	n/a
26	chr14:55738888-55738938	SKMC	muscle:	n/a
27	chr14:55738888-55738938	U87	brain:	n/a
28	chr14:55738888-55738938	PrEC	prostate:	n/a
29	chr14:55738888-55738938	SK-N-SH	brain:	n/a
30	chr14:55738888-55738938	AoSMC	blood vessel:	n/a
31	chr14:55738888-55738938	HRE	kidney:	n/a
32	chr14:55738888-55738938	AG09309	skin:	n/a
33	chr14:55738888-55738938	HCF	heart:	n/a
34	chr14:55738888-55738938	HPAEpiC	pulmonary alveolar:	n/a
35	chr14:55738888-55738938	HCT-116	colon:	n/a
36	chr14:55738888-55738938	HepG2	liver:	n/a
37	chr14:55738888-55738938	HCPEpiC	choroid plexus:	n/a
38	chr14:55738888-55738938	SK-N-MC	brain:	n/a
39	chr14:55738888-55738938	IMR90	lung:	fetal
40	chr14:55738888-55738938	AG09319	gingival:	n/a
41	chr14:55738888-55738938	HUVEC	blood vessel:	n/a
42	chr14:55738888-55738938	GM12878	blood:	n/a
43	chr14:55738888-55738938	GM19239	blood:	n/a
44	chr14:55738888-55738938	PFSK-1	brain:	n/a
45	chr14:55738888-55738938	MCF-7	breast:	n/a
46	chr14:55738888-55738938	ProgFib	skin:	n/a
47	chr14:55738888-55738938	NH-A	brain:	n/a
48	chr14:55738888-55738938	PANC-1	pancreas:	n/a
49	chr14:55738888-55738938	BE2_C	brain:	n/a
50	chr14:55738888-55738938	Hepatocyte	liver:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:55517347..55519818-chr14:55736283..55739378,3	MCF-7	breast:
2	chr14:55736427..55740242-chr14:55801434..55807681,7	MCF-7	breast:
3	chr14:55737342..55739119-chr14:56046136..56048438,2	K562	blood:
4	chr14:55516892..55519791-chr14:55737278..55740152,4	K562	blood:
5	chr14:55657821..55660879-chr14:55735073..55739609,4	K562	blood:
6	chr14:55736795..55740558-chr14:55765144..55770564,6	K562	blood:
7	chr14:55737940..55739664-chr14:55764646..55766801,2	MCF-7	breast:
8	chr14:55664630..55666911-chr14:55737863..55740088,2	K562	blood:
9	chr14:55736665..55740457-chr14:55875135..55883763,10	K562	blood:

No data

Variant related genes	Relation type
ENSG00000258413	TF binding region
FBXO34	TF binding region
FBXO34	CpG island
ENSG00000258413	CpG island
ENSG00000239199	Chromatin interaction
ENSG00000258469	Chromatin interaction
ENSG00000126775	Chromatin interaction
ENSG00000258050	Chromatin interaction
ENSG00000126777	Chromatin interaction
ENSG00000126787	Chromatin interaction
ENSG00000258455	Chromatin interaction
ENSG00000186615	Chromatin interaction
ENSG00000168175	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10131913	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10131926	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10134800	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10139083	0.92[EUR][1000 genomes]
rs10139337	0.92[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10139678	0.91[EUR][1000 genomes]
rs10140801	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10140869	0.86[EUR][1000 genomes]
rs10141483	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10141552	0.95[EUR][1000 genomes]
rs10142547	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10142823	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10144345	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10145203	0.90[EUR][1000 genomes]
rs10149420	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10150699	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10467798	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1109170	0.97[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11547116	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11625001	0.94[EUR][1000 genomes]
rs11625423	0.89[EUR][1000 genomes]
rs11628437	0.90[EUR][1000 genomes]
rs12050099	0.90[EUR][1000 genomes]
rs13379169	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17128440	0.82[EUR][1000 genomes]
rs17740741	0.90[EUR][1000 genomes]
rs1815581	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1952087	0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2009291	0.88[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2075601	0.84[AMR][1000 genomes]
rs2075602	0.84[AMR][1000 genomes]
rs2341621	0.94[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2341622	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28504448	0.81[EUR][1000 genomes]
rs28568813	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28631821	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs28716725	0.83[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs2880103	0.83[ASN][1000 genomes]
rs3783650	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3818451	0.81[AMR][1000 genomes]
rs3825616	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4366639	0.89[EUR][1000 genomes]
rs4496026	0.89[EUR][1000 genomes]
rs4519260	0.86[AMR][1000 genomes]
rs4597235	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs56166765	0.84[ASN][1000 genomes]
rs56949365	0.89[EUR][1000 genomes]
rs58260073	0.93[EUR][1000 genomes]
rs59629906	0.92[EUR][1000 genomes]
rs59871474	0.92[EUR][1000 genomes]
rs60248556	0.94[EUR][1000 genomes]
rs61210954	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6573007	0.81[AMR][1000 genomes]
rs6573009	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6573010	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6573012	0.88[AMR][1000 genomes]
rs6573014	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573017	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs66486619	0.81[EUR][1000 genomes]
rs66696758	0.93[EUR][1000 genomes]
rs67514154	0.94[EUR][1000 genomes]
rs68046603	0.91[EUR][1000 genomes]
rs7142857	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7144292	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7146748	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7147106	0.81[AMR][1000 genomes]
rs7148171	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7153110	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7153612	0.90[EUR][1000 genomes]
rs7153645	0.93[EUR][1000 genomes]
rs7154889	0.85[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7158768	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7158861	0.82[EUR][1000 genomes]
rs7159144	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7159808	0.84[AMR][1000 genomes]
rs7160523	0.81[AMR][1000 genomes]
rs72715769	0.94[EUR][1000 genomes]
rs8004787	0.84[AMR][1000 genomes]
rs8006525	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs8011288	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8018110	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs8021583	0.95[EUR][1000 genomes]
rs8022041	0.81[EUR][1000 genomes]
rs8022225	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9323284	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs943590	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs946059	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][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	esv3347717	chr14:55737449-55739397	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7146752	RP11-665C16.6	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55737400-55739200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr14:55737400-55739400	Active TSS	Fetal Lung	lung
3	chr14:55737400-55739800	Active TSS	NHLF	lung
4	chr14:55737400-55741000	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr14:55737600-55739000	Active TSS	Primary B cells from cord blood	blood
6	chr14:55737600-55739000	Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr14:55737600-55739000	Active TSS	Rectal Mucosa Donor 29	rectum
8	chr14:55737600-55739200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr14:55737600-55739200	Active TSS	H1 Cell Line	embryonic stem cell
10	chr14:55737600-55739200	Active TSS	H9 Cell Line	embryonic stem cell
11	chr14:55737600-55739200	Active TSS	Aorta	Aorta
12	chr14:55737600-55739200	Active TSS	Brain Hippocampus Middle	brain
13	chr14:55737600-55739200	Active TSS	Brain Substantia Nigra	brain
14	chr14:55737600-55739200	Active TSS	Colon Smooth Muscle	Colon
15	chr14:55737600-55739200	Active TSS	Duodenum Mucosa	Duodenum
16	chr14:55737600-55739200	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr14:55737600-55739200	Active TSS	Fetal Muscle Trunk	muscle
18	chr14:55737600-55739200	Active TSS	Stomach Smooth Muscle	stomach
19	chr14:55737600-55739400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:55737600-55739400	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr14:55737600-55739600	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr14:55737600-55739600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr14:55737600-55739600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr14:55737600-55739600	Active TSS	Esophagus	oesophagus
25	chr14:55737600-55739600	Active TSS	Fetal Thymus	thymus
26	chr14:55737600-55739600	Active TSS	Lung	lung
27	chr14:55737600-55739600	Active TSS	Hela-S3	cervix
28	chr14:55737600-55739800	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr14:55737600-55740000	Active TSS	Colonic Mucosa	Colon
30	chr14:55737600-55740600	Active TSS	Brain Cingulate Gyrus	brain
31	chr14:55737600-55740800	Active TSS	Brain Anterior Caudate	brain
32	chr14:55737600-55741000	Active TSS	Psoas Muscle	Psoas
33	chr14:55737600-55741000	Active TSS	Right Ventricle	heart
34	chr14:55737600-55741200	Active TSS	Brain Angular Gyrus	brain
35	chr14:55737600-55741400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr14:55737800-55739000	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr14:55737800-55739000	Active TSS	Primary hematopoietic stem cells	blood
38	chr14:55737800-55739000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
39	chr14:55737800-55739000	Active TSS	Primary T helper cells PMA-I stimulated	--
40	chr14:55737800-55739000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr14:55737800-55739000	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr14:55737800-55739000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr14:55737800-55739000	Active TSS	Liver	Liver
44	chr14:55737800-55739000	Active TSS	Pancreas	Pancrea
45	chr14:55737800-55739000	Active TSS	Rectal Smooth Muscle	rectum
46	chr14:55737800-55739000	Active TSS	NH-A	brain
47	chr14:55737800-55739000	Active TSS	Osteobl	bone
48	chr14:55737800-55739200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr14:55737800-55739200	Active TSS	Muscle Satellite Cultured Cells	--
50	chr14:55737800-55739200	Active TSS	Placenta	Placenta

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