Variant report

Variant	rs2295319
Chromosome Location	chr14:24682837-24682838
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:484)
CpG islands
(count:61)
Chromatin interactive
region (count:37)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:484 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	USF1	chr14:24682519-24683014	A549	lung:	n/a	chr14:24682568-24682584 chr14:24682800-24682811 chr14:24682526-24682542
2	MAX	chr14:24682129-24683059	H1-hESC	embryonic stem cell:	n/a	n/a
3	RELA	chr14:24682219-24683103	GM19193	blood:	n/a	chr14:24682481-24682490 chr14:24682481-24682490
4	GABPA	chr14:24682092-24683132	MCF-7	breast:	n/a	n/a
5	GATA3	chr14:24682057-24683073	A549	lung:	n/a	n/a
6	TAF1	chr14:24682055-24683147	H1-hESC	embryonic stem cell:	n/a	n/a
7	KAP1	chr14:24682252-24683104	U2OS	brain:	n/a	n/a
8	POLR2A	chr14:24682089-24683223	HL-60	blood:	n/a	n/a
9	USF1	chr14:24682517-24682988	A549	lung:	n/a	chr14:24682568-24682584 chr14:24682800-24682811 chr14:24682526-24682542
10	ZNF263	chr14:24682173-24683011	HEK293-T-REx	kidney:	n/a	n/a
11	SRF	chr14:24682261-24683089	ECC-1	luminal epithelium:	n/a	n/a
12	CHD2	chr14:24682217-24683010	GM12878	blood:	n/a	n/a
13	CREB1	chr14:24682473-24682989	A549	lung:	n/a	n/a
14	CHD2	chr14:24682316-24683042	HepG2	liver:	n/a	n/a
15	NR3C1	chr14:24682250-24682895	A549	lung:	n/a	n/a
16	ATF2	chr14:24682027-24682996	GM12878	blood:	n/a	n/a
17	TCF7L2	chr14:24682395-24682939	PANC-1	pancreas:	n/a	n/a
18	SP1	chr14:24682122-24683037	GM12878	blood:	n/a	chr14:24682339-24682349 chr14:24682339-24682349
19	MXI1	chr14:24682233-24682983	Hela-S3	cervix:	n/a	n/a
20	MYC	chr14:24682102-24683069	NB4	blood:	n/a	n/a
21	USF1	chr14:24682524-24683199	SK-N-SH	brain:	n/a	chr14:24682568-24682584 chr14:24682800-24682811 chr14:24682526-24682542
22	CBX3	chr14:24682165-24682910	K562	blood:	n/a	n/a
23	MAZ	chr14:24682186-24683017	K562	blood:	n/a	n/a
24	ATF3	chr14:24682428-24682939	K562	blood:	n/a	n/a
25	CREB1	chr14:24682276-24683117	ECC-1	luminal epithelium:	n/a	n/a
26	TCF7L2	chr14:24682267-24682956	HCT-116	colon:	n/a	n/a
27	SP1	chr14:24682096-24683202	HCT-116	colon:	n/a	chr14:24682339-24682349 chr14:24682339-24682349
28	POLR2A	chr14:24682230-24683020	HepG2	liver:	n/a	n/a
29	MAX	chr14:24682096-24682991	SK-N-SH	brain:	n/a	n/a
30	TAF1	chr14:24682118-24682848	GM12878	blood:	n/a	n/a
31	MYC	chr14:24682620-24682860	HUVEC	blood vessel:	n/a	n/a
32	ZBTB33	chr14:24682360-24682904	GM12878	blood:	n/a	n/a
33	PBX3	chr14:24682201-24682954	A549	lung:	n/a	n/a
34	USF1	chr14:24682172-24683081	A549	lung:	n/a	chr14:24682568-24682584 chr14:24682800-24682811 chr14:24682526-24682542
35	POLR2A	chr14:24682062-24683050	GM12878	blood:	n/a	n/a
36	USF1	chr14:24682601-24683040	K562	blood:	n/a	chr14:24682800-24682811
37	FOXM1	chr14:24681998-24683067	GM12878	blood:	n/a	n/a
38	SIN3AK20	chr14:24682123-24683086	HepG2	liver:	n/a	n/a
39	USF1	chr14:24682400-24683190	A549	lung:	n/a	chr14:24682568-24682584 chr14:24682800-24682811 chr14:24682526-24682542
40	ELF1	chr14:24682125-24683132	SK-N-SH	brain:	n/a	n/a
41	MYBL2	chr14:24681937-24683555	HepG2	liver:	n/a	n/a
42	GTF2F1	chr14:24682325-24682981	K562	blood:	n/a	n/a
43	POLR2A	chr14:24682046-24683079	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr14:24682095-24683160	HL-60	blood:	n/a	n/a
45	ATF3	chr14:24682274-24683032	HepG2	liver:	n/a	n/a
46	IRF1	chr14:24682208-24683265	K562	blood:	n/a	chr14:24682509-24682518
47	POLR2A	chr14:24682053-24683165	Raji	blood:	n/a	n/a
48	ZKSCAN1	chr14:24682258-24682996	Hela-S3	cervix:	n/a	n/a
49	TAF1	chr14:24682123-24682954	K562	blood:	n/a	n/a
50	NFYB	chr14:24682449-24683041	Hela-S3	cervix:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:24682805-24682855	AG10803	skin:	n/a
2	chr14:24682805-24682855	K562	blood:	n/a
3	chr14:24682805-24682855	GM12891	blood:	n/a
4	chr14:24682805-24682855	NHBE	bronchial:	n/a
5	chr14:24682805-24682855	BE2_C	brain:	n/a
6	chr14:24682805-24682855	SK-N-MC	brain:	n/a
7	chr14:24682805-24682855	Hepatocyte	liver:	n/a
8	chr14:24682805-24682855	HepG2	liver:	n/a
9	chr14:24682805-24682855	PFSK-1	brain:	n/a
10	chr14:24682805-24682855	AG04450	lung:	fetal
11	chr14:24682805-24682855	SKMC	muscle:	n/a
12	chr14:24682805-24682855	NB4	blood:	n/a
13	chr14:24682805-24682855	HRCEpiC	kidney:	n/a
14	chr14:24682805-24682855	H1-hESC	embryonic stem cell:	embryo
15	chr14:24682805-24682855	HRE	kidney:	n/a
16	chr14:24682805-24682855	RPTEC	kidney:	n/a
17	chr14:24682805-24682855	HL-60	blood:	n/a
18	chr14:24682805-24682855	AG09319	gingival:	n/a
19	chr14:24682805-24682855	GM12892	blood:	n/a
20	chr14:24682805-24682855	PrEC	prostate:	n/a
21	chr14:24682805-24682855	HAEpiC	amniotic membrane:	n/a
22	chr14:24682805-24682855	LNCaP	prostate:	n/a
23	chr14:24682805-24682855	AG09309	skin:	n/a
24	chr14:24682805-24682855	Hela-S3	cervix:	n/a
25	chr14:24682805-24682855	SK-N-SH_RA	brain:	n/a
26	chr14:24682805-24682855	NT2-D1	testis:	n/a
27	chr14:24682805-24682855	MCF-7	breast:	n/a
28	chr14:24682805-24682855	AoSMC	blood vessel:	n/a
29	chr14:24682805-24682855	GM06990	blood:	n/a
30	chr14:24682805-24682855	Jurkat	blood:	n/a
31	chr14:24682805-24682855	HCPEpiC	choroid plexus:	n/a
32	chr14:24682805-24682855	CMK	blood:	n/a
33	chr14:24682805-24682855	A549	lung:	n/a
34	chr14:24682805-24682855	HPAEpiC	pulmonary alveolar:	n/a
35	chr14:24682805-24682855	NH-A	brain:	n/a
36	chr14:24682805-24682855	U87	brain:	n/a
37	chr14:24682805-24682855	HMEC	breast:	n/a
38	chr14:24682805-24682855	HCT-116	colon:	n/a
39	chr14:24682805-24682855	NHDF-neo	bronchial:	n/a
40	chr14:24682805-24682855	T-47D	breast:	n/a
41	chr14:24682805-24682855	HRPEpiC	eye:	n/a
42	chr14:24682805-24682855	BJ	skin:	n/a
43	chr14:24682805-24682855	AG04449	skin:	fetal
44	chr14:24682805-24682855	HNPCEpiC	eye:	n/a
45	chr14:24682805-24682855	ovcar-3	ovarian:	n/a
46	chr14:24682805-24682855	PANC-1	pancreas:	n/a
47	chr14:24682805-24682855	Caco-2	colon:	n/a
48	chr14:24682805-24682855	GM12878	blood:	n/a
49	chr14:24682805-24682855	MCF10A-Er-Src	breast:	n/a
50	chr14:24682805-24682855	ECC-1	luminal epithelium:	n/a

(count:37 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:24614698..24618732-chr14:24681293..24686635,9	MCF-7	breast:
2	chr14:24681838..24686459-chr14:24698203..24703209,7	K562	blood:
3	chr14:24681489..24683896-chr22:29136971..29139325,2	MCF-7	breast:
4	chr14:24657069..24662255-chr14:24679017..24683823,7	K562	blood:
5	chr14:24657069..24659757-chr14:24681163..24683823,2	K562	blood:
6	chr14:24562256..24566141-chr14:24679709..24684040,4	MCF-7	breast:
7	chr14:24682214..24683090-chr7:75544017..75544543,2	NB4	blood:
8	chr14:24680927..24686311-chr14:24766466..24771455,6	K562	blood:
9	chr14:24682248..24683216-chr6:27777393..27778163,2	NB4	blood:
10	chr14:24644916..24647133-chr14:24681211..24683281,2	MCF-7	breast:
11	chr14:24653860..24661964-chr14:24680820..24687057,41	MCF-7	breast:
12	chr14:24582139..24585680-chr14:24681172..24684966,4	K562	blood:
13	chr14:24682382..24684800-chr14:24800505..24802328,2	K562	blood:
14	chr14:24680938..24683854-chr14:24736234..24738459,2	K562	blood:
15	chr14:24681602..24685045-chr14:24898549..24902277,4	MCF-7	breast:
16	chr14:24608866..24610755-chr14:24681114..24684449,4	MCF-7	breast:
17	chr14:24680755..24686632-chr14:24737203..24743863,8	MCF-7	breast:
18	chr14:24682311..24682883-chr19:12901848..12902816,2	NB4	blood:
19	chr14:24562071..24566026-chr14:24681194..24683838,4	K562	blood:
20	chr14:24682270..24687913-chr14:24764870..24771791,12	MCF-7	breast:
21	chr14:24682724..24684618-chr16:2203699..2206163,2	MCF-7	breast:
22	chr14:24608723..24612009-chr14:24681529..24684015,3	K562	blood:
23	chr14:24682279..24682848-chr15:78556323..78556942,2	Hela-S3	cervix:
24	chr14:24662549..24668200-chr14:24676089..24685150,15	K562	blood:
25	chr14:24627382..24636644-chr14:24680297..24686914,11	MCF-7	breast:
26	chr1:150240934..150241485-chr14:24682246..24682842,2	Hela-S3	cervix:
27	chr14:24682802..24685207-chr14:24711355..24714494,4	K562	blood:
28	chr14:24663072..24666624-chr14:24679241..24683731,7	K562	blood:
29	chr14:24581643..24583639-chr14:24682241..24684966,3	K562	blood:
30	chr14:24647373..24649581-chr14:24682421..24684138,2	MCF-7	breast:
31	chr14:24657528..24658605-chr14:24681964..24682912,4	HCT-116	colon:
32	chr14:24618673..24621227-chr14:24682825..24685142,2	K562	blood:
33	chr14:24582823..24585383-chr14:24679580..24684086,4	MCF-7	breast:
34	chr14:24682332..24685366-chr14:24686250..24689239,4	K562	blood:
35	chr14:24682408..24683240-chr14:24701149..24701695,2	MCF-7	breast:
36	chr14:24562071..24566278-chr14:24680757..24683932,6	K562	blood:
37	chr14:24681591..24684402-chr14:24776273..24778851,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSSK4-1	chr14:24681707-24683202	NONHSAT036011

No data

Variant related genes	Relation type
TM9SF1	TF binding region
ENSG00000254692	TF binding region
CHMP4A	TF binding region
ENSG00000254692	CpG island
CHMP4A	CpG island
TM9SF1	CpG island
ENSG00000259522	Chromatin interaction
ENSG00000255526	Chromatin interaction
ENSG00000100441	Chromatin interaction
ENSG00000129467	Chromatin interaction
ENSG00000092098	Chromatin interaction
ENSG00000259529	Chromatin interaction
ENSG00000100926	Chromatin interaction
ENSG00000157379	Chromatin interaction
ENSG00000206630	Chromatin interaction
ENSG00000100889	Chromatin interaction
ENSG00000260260	Chromatin interaction
ENSG00000196943	Chromatin interaction
ENSG00000140403	Chromatin interaction
ENSG00000100911	Chromatin interaction
ENSG00000100908	Chromatin interaction
ENSG00000259708	Chromatin interaction
ENSG00000139899	Chromatin interaction
ENSG00000127948	Chromatin interaction
ENSG00000100897	Chromatin interaction
ENSG00000265020	Chromatin interaction
ENSG00000203813	Chromatin interaction
ENSG00000183765	Chromatin interaction
ENSG00000100209	Chromatin interaction
ENSG00000199804	Chromatin interaction
ENSG00000100918	Chromatin interaction
ENSG00000213928	Chromatin interaction
ENSG00000129559	Chromatin interaction
ENSG00000100938	Chromatin interaction
ENSG00000129535	Chromatin interaction
ENSG00000136305	Chromatin interaction
ENSG00000131653	Chromatin interaction
ENSG00000171223	Chromatin interaction
ENSG00000092330	Chromatin interaction
ENSG00000100949	Chromatin interaction
ENSG00000117362	Chromatin interaction
ENSG00000272658	Chromatin interaction
ENSG00000196497	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10144791	0.89[LWK][hapmap];1.00[MEX][hapmap]
rs10146665	1.00[MEX][hapmap]
rs1242023	0.80[ASN][1000 genomes]
rs12588742	0.84[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs12589157	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs17184526	0.87[CHB][hapmap];0.88[CHD][hapmap]
rs2234095	0.81[CHB][hapmap]
rs2234096	0.91[JPT][hapmap]
rs2295318	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3814815	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs55949103	0.80[ASN][1000 genomes]
rs59033623	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72694311	0.82[ASN][1000 genomes]
rs72694312	0.82[ASN][1000 genomes]
rs8007272	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2295319	ENSG00000100931	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:24681600-24683000	Active TSS	iPS-15b Cell Line	embryonic stem cell
2	chr14:24681600-24683000	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr14:24681600-24683000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:24681600-24683000	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr14:24681600-24683000	Active TSS	Esophagus	oesophagus
6	chr14:24681600-24683200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr14:24681600-24683200	Flanking Active TSS	Primary B cells from cord blood	blood
8	chr14:24681800-24683000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:24681800-24683000	Active TSS	H9 Cell Line	embryonic stem cell
10	chr14:24681800-24683000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:24681800-24683000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
12	chr14:24681800-24683000	Active TSS	Colon Smooth Muscle	Colon
13	chr14:24681800-24683000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr14:24681800-24683200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr14:24681800-24683200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr14:24681800-24683200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:24681800-24683200	Active TSS	Psoas Muscle	Psoas
18	chr14:24681800-24683200	Active TSS	Right Ventricle	heart
19	chr14:24681800-24683600	Active TSS	H1 Cell Line	embryonic stem cell
20	chr14:24682000-24683000	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr14:24682000-24683000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:24682000-24683000	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr14:24682000-24683000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr14:24682000-24683000	Active TSS	Adipose Nuclei	Adipose
25	chr14:24682000-24683000	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr14:24682000-24683000	Active TSS	Fetal Muscle Trunk	muscle
27	chr14:24682000-24683000	Active TSS	Lung	lung
28	chr14:24682000-24683000	Active TSS	Pancreas	Pancrea
29	chr14:24682000-24683000	Active TSS	K562	blood
30	chr14:24682000-24683200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr14:24682000-24683800	Active TSS	Brain Germinal Matrix	brain
32	chr14:24682200-24683000	Active TSS	Gastric	stomach
33	chr14:24682200-24683200	Active TSS	Spleen	Spleen
34	chr14:24682600-24683200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr14:24682600-24683200	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr14:24682600-24683400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr14:24682600-24684600	Weak transcription	Aorta	Aorta
38	chr14:24682800-24683000	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
39	chr14:24682800-24683000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr14:24682800-24683000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:24682800-24683000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr14:24682800-24683000	Flanking Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr14:24682800-24683000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
44	chr14:24682800-24683000	Flanking Active TSS	Primary B cells from peripheral blood	blood
45	chr14:24682800-24683000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
46	chr14:24682800-24683000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr14:24682800-24683000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
48	chr14:24682800-24683000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr14:24682800-24683000	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
50	chr14:24682800-24683000	Flanking Active TSS	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links