Variant report

Variant	rs11628549
Chromosome Location	chr14:69444132-69444133
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	POLR2A	chr14:69443844-69447350	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr14:69444036-69444342	K562	blood:	n/a	n/a
3	POLR2A	chr14:69443926-69446789	ProgFib	skin:	n/a	n/a
4	ESR1	chr14:69444109-69444377	ECC-1	luminal epithelium:	n/a	chr14:69444244-69444259
5	POLR2A	chr14:69444061-69446941	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr14:69443144-69445570	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr14:69441718-69446518	HepG2	liver:	n/a	n/a
8	MXI1	chr14:69441660-69447416	IMR90	lung:	n/a	n/a
9	MAX	chr14:69443875-69446589	MCF-7	breast:	n/a	chr14:69446258-69446267 chr14:69446222-69446232 chr14:69444518-69444528 chr14:69445035-69445045 chr14:69445545-69445555 chr14:69446056-69446066 chr14:69445647-69445657 chr14:69446420-69446430
10	CHD1	chr14:69441180-69450261	IMR90	lung:	n/a	chr14:69446695-69446705
11	POLR2A	chr14:69444071-69444296	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr14:69444127-69444448	U87	brain:	n/a	n/a
13	MYC	chr14:69444046-69446434	NB4	blood:	n/a	chr14:69446258-69446267 chr14:69446222-69446232 chr14:69444518-69444528 chr14:69445035-69445045 chr14:69445545-69445555 chr14:69446056-69446066 chr14:69445647-69445657 chr14:69446420-69446430
14	MAX	chr14:69443999-69446446	NB4	blood:	n/a	chr14:69446258-69446267 chr14:69446222-69446232 chr14:69444518-69444528 chr14:69445035-69445045 chr14:69445545-69445555 chr14:69446056-69446066 chr14:69445647-69445657 chr14:69446420-69446430
15	POLR2A	chr14:69443295-69445595	U87	brain:	n/a	n/a
16	POLR2A	chr14:69444097-69447251	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr14:69444091-69446477	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr14:69444021-69444325	H1-hESC	embryonic stem cell:	n/a	n/a
19	EP300	chr14:69443979-69445111	SK-N-SH	brain:	n/a	chr14:69444809-69444825
20	POLR2A	chr14:69443765-69446483	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr14:69443683-69446499	HepG2	liver:	n/a	n/a
22	MAZ	chr14:69442284-69447004	IMR90	lung:	n/a	chr14:69442450-69442457 chr14:69442448-69442459 chr14:69446258-69446267 chr14:69446222-69446232 chr14:69442447-69442460 chr14:69444518-69444528 chr14:69445035-69445045 chr14:69442449-69442459 chr14:69445545-69445555 chr14:69446056-69446066 chr14:69445647-69445657 chr14:69446420-69446430 chr14:69442449-69442458
23	POLR2A	chr14:69443954-69444166	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr14:69444066-69444401	Hela-S3	cervix:	n/a	n/a
25	POLR2A	chr14:69444081-69444254	HepG2	liver:	n/a	n/a
26	RXRA	chr14:69444042-69445034	SK-N-SH	brain:	n/a	chr14:69444642-69444662
27	CHD1	chr14:69444077-69444440	H1-hESC	embryonic stem cell:	n/a	n/a
28	TAF1	chr14:69444105-69444399	SK-N-SH	brain:	n/a	n/a
29	POLR2A	chr14:69444017-69444361	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr14:69443792-69444448	U87	brain:	n/a	n/a
31	TCF12	chr14:69443978-69445630	A549	lung:	n/a	chr14:69445102-69445112 chr14:69445172-69445182
32	TCF7L2	chr14:69444121-69444412	PANC-1	pancreas:	n/a	n/a
33	SIN3A	chr14:69444076-69444251	H1-hESC	embryonic stem cell:	n/a	n/a
34	POLR2A	chr14:69441592-69445621	HUVEC	blood vessel:	n/a	n/a
35	POLR2A	chr14:69443929-69446974	Hela-S3	cervix:	n/a	n/a
36	POLR2A	chr14:69443989-69444327	H1-hESC	embryonic stem cell:	n/a	n/a
37	SPI1	chr14:69443934-69444170	GM12891	blood:	n/a	chr14:69444007-69444016
38	POLR2A	chr14:69443981-69445581	HUVEC	blood vessel:	n/a	n/a
39	ZNF263	chr14:69443562-69445405	HEK293-T-REx	kidney:	n/a	chr14:69444605-69444614
40	HCFC1	chr14:69443969-69447466	Hela-S3	cervix:	n/a	n/a
41	MXI1	chr14:69442097-69447256	SK-N-SH	brain:	n/a	n/a
42	TAF1	chr14:69444093-69446234	H1-hESC	embryonic stem cell:	n/a	n/a
43	WRNIP1	chr14:69444073-69444292	GM12878	blood:	n/a	n/a
44	SMARCB1	chr14:69444112-69447314	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr14:69443955-69445603	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr14:69442571-69447283	HUVEC	blood vessel:	n/a	n/a
47	MAX	chr14:69443945-69446575	HepG2	liver:	n/a	chr14:69446258-69446267 chr14:69446222-69446232 chr14:69444518-69444528 chr14:69445035-69445045 chr14:69445545-69445555 chr14:69446056-69446066 chr14:69445647-69445657 chr14:69446420-69446430
48	POLR2A	chr14:69443340-69446605	SK-N-SH	brain:	n/a	n/a
49	POLR2A	chr14:69441290-69449923	IMR90	lung:	n/a	n/a
50	USF2	chr14:69444126-69444262	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:69403117..69416483-chr14:69441657..69449888,50	MCF-7	breast:
2	chr14:69261314..69263006-chr14:69442785..69445190,2	MCF-7	breast:
3	chr14:69443336..69444165-chr9:71129673..71130579,2	MCF-7	breast:
4	chr14:69385888..69393669-chr14:69442988..69447287,14	MCF-7	breast:
5	chr14:69402982..69422523-chr14:69436263..69448017,46	MCF-7	breast:
6	chr14:69443112..69445265-chr14:69618639..69620966,2	K562	blood:
7	chr14:69385676..69391979-chr14:69443116..69446617,6	MCF-7	breast:
8	chr14:69442124..69444502-chr20:46130530..46133122,2	MCF-7	breast:

Variant related genes	Relation type
ACTN1-AS1	TF binding region
ENSG00000072110	Chromatin interaction
ENSG00000124151	Chromatin interaction
ENSG00000139990	Chromatin interaction
ENSG00000258531	Chromatin interaction
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10139165	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627719	0.86[AMR][1000 genomes]
rs11628773	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17835996	1.00[ASN][1000 genomes]
rs1884631	0.83[ASN][1000 genomes]
rs1950712	0.83[ASN][1000 genomes]
rs28561965	0.95[EUR][1000 genomes]
rs2877521	0.83[ASN][1000 genomes]
rs2877522	0.83[ASN][1000 genomes]
rs2877523	0.83[ASN][1000 genomes]
rs3809393	1.00[ASN][1000 genomes]
rs60900044	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832823	chr14:69388853-69567638	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv3449858	chr14:69443549-69447697	Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69438400-69444400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr14:69439200-69444400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
3	chr14:69440600-69444400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr14:69441200-69444200	Transcr. at gene 5' and 3'	NHEK	skin
5	chr14:69441200-69445200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:69441400-69444400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr14:69441600-69444200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
8	chr14:69441600-69444400	Transcr. at gene 5' and 3'	HMEC	breast
9	chr14:69441800-69444400	Transcr. at gene 5' and 3'	Osteobl	bone
10	chr14:69441800-69444600	Enhancers	Spleen	Spleen
11	chr14:69441800-69445200	Transcr. at gene 5' and 3'	A549	lung
12	chr14:69442000-69444200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr14:69442000-69444200	Transcr. at gene 5' and 3'	HSMMtube	muscle
14	chr14:69442000-69444400	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
15	chr14:69442200-69444200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr14:69442200-69444200	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
17	chr14:69442200-69445200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr14:69442400-69444400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
19	chr14:69442400-69444400	Flanking Active TSS	HepG2	liver
20	chr14:69442400-69444600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr14:69442600-69444200	Flanking Active TSS	Rectal Smooth Muscle	rectum
22	chr14:69442600-69444200	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr14:69442600-69444400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
24	chr14:69442600-69444400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:69442800-69444200	Enhancers	Placenta	Placenta
26	chr14:69442800-69444400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
27	chr14:69443000-69444200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
28	chr14:69443000-69444200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
29	chr14:69443000-69444200	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr14:69443000-69444400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr14:69443000-69444800	Enhancers	Fetal Brain Male	brain
32	chr14:69443200-69444200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr14:69443200-69444200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:69443200-69444200	Flanking Active TSS	Colon Smooth Muscle	Colon
35	chr14:69443200-69444400	Flanking Active TSS	HUVEC	blood vessel
36	chr14:69443200-69444400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
37	chr14:69443200-69445200	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr14:69443200-69447000	Active TSS	Aorta	Aorta
39	chr14:69443400-69444200	Transcr. at gene 5' and 3'	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr14:69443400-69444200	Flanking Active TSS	Brain Hippocampus Middle	brain
41	chr14:69443400-69444200	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
42	chr14:69443400-69444400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr14:69443400-69444400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr14:69443400-69444400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
45	chr14:69443400-69444400	Flanking Active TSS	Fetal Heart	heart
46	chr14:69443400-69444400	Flanking Active TSS	K562	blood
47	chr14:69443400-69445000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr14:69443600-69444200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
49	chr14:69443600-69444200	Active TSS	Fetal Brain Female	brain
50	chr14:69443600-69444200	Weak transcription	Ovary	ovary

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links