Variant report

Variant	rs1051533
Chromosome Location	chr14:69259662-69259663
allele	G/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	POLR2A	chr14:69258910-69261726	MCF-7	breast:	n/a	n/a
2	NFIC	chr14:69258747-69263739	GM12878	blood:	n/a	n/a
3	POLR2A	chr14:69250963-69263207	U87	brain:	n/a	n/a
4	JUND	chr14:69258904-69261961	HCT-116	colon:	n/a	chr14:69259933-69259942 chr14:69260177-69260186 chr14:69261262-69261271
5	TAF1	chr14:69259564-69259851	HepG2	liver:	n/a	n/a
6	YY1	chr14:69259509-69260044	HCT-116	colon:	n/a	chr14:69259714-69259728 chr14:69259973-69259984
7	YY1	chr14:69259516-69259931	K562	blood:	n/a	chr14:69259714-69259728
8	POLR2A	chr14:69259421-69260516	SK-N-MC	brain:	n/a	n/a
9	JUN	chr14:69259457-69260853	K562	blood:	n/a	chr14:69260176-69260189 chr14:69259933-69259942 chr14:69260177-69260186
10	PBX3	chr14:69258047-69262185	A549	lung:	n/a	n/a
11	ELF1	chr14:69259656-69260391	K562	blood:	n/a	n/a
12	TAF1	chr14:69258894-69260546	A549	lung:	n/a	n/a
13	RELA	chr14:69258539-69263496	GM12891	blood:	n/a	n/a
14	EP300	chr14:69259649-69260492	H1-hESC	embryonic stem cell:	n/a	chr14:69260104-69260120 chr14:69260038-69260052 chr14:69259995-69260009
15	BHLHE40	chr14:69259293-69263433	GM12878	blood:	n/a	n/a
16	BCL3	chr14:69259463-69260333	GM12878	blood:	n/a	chr14:69259937-69259950 chr14:69260268-69260281 chr14:69259582-69259591
17	MAX	chr14:69259345-69263353	K562	blood:	n/a	n/a
18	MAX	chr14:69259154-69261941	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr14:69258369-69259894	GM12891	blood:	n/a	n/a
20	SMC3	chr14:69259523-69259816	K562	blood:	n/a	n/a
21	MAX	chr14:69259454-69259743	K562	blood:	n/a	n/a
22	PML	chr14:69258860-69263235	MCF-7	breast:	n/a	n/a
23	EGR1	chr14:69259605-69259830	GM12878	blood:	n/a	n/a
24	STAT1	chr14:69259541-69260597	GM12878	blood:	n/a	chr14:69260255-69260266 chr14:69259835-69259847 chr14:69259829-69259841 chr14:69259935-69259947
25	JUND	chr14:69259522-69260464	A549	lung:	n/a	chr14:69259933-69259942 chr14:69260177-69260186
26	POLR2A	chr14:69254988-69263278	GM12892	blood:	n/a	n/a
27	CHD2	chr14:69259621-69260195	HepG2	liver:	n/a	chr14:69259834-69259844
28	IKZF1	chr14:69259626-69260522	GM12878	blood:	n/a	n/a
29	POLR2A	chr14:69258876-69259885	A549	lung:	n/a	n/a
30	PML	chr14:69259443-69260409	K562	blood:	n/a	n/a
31	TEAD4	chr14:69259427-69259995	A549	lung:	n/a	n/a
32	POLR2A	chr14:69255614-69263201	ECC-1	luminal epithelium:	n/a	n/a
33	POLR2A	chr14:69254928-69263445	GM12892	blood:	n/a	n/a
34	EP300	chr14:69258805-69263522	ECC-1	luminal epithelium:	n/a	chr14:69260104-69260120 chr14:69260038-69260052 chr14:69261261-69261270 chr14:69260641-69260657 chr14:69259995-69260009 chr14:69260648-69260657
35	POLR2A	chr14:69257221-69263637	MCF10A-Er-Src	breast:	n/a	n/a
36	RAD21	chr14:69259487-69260484	H1-hESC	embryonic stem cell:	n/a	n/a
37	ZNF143	chr14:69258990-69259861	Hela-S3	cervix:	n/a	chr14:69259749-69259767 chr14:69259830-69259848
38	EP300	chr14:69259106-69262013	GM12878	blood:	n/a	chr14:69260104-69260120 chr14:69260038-69260052 chr14:69261261-69261270 chr14:69260641-69260657 chr14:69259995-69260009 chr14:69260648-69260657
39	POU2F2	chr14:69259437-69262005	GM12891	blood:	n/a	chr14:69260641-69260653 chr14:69261039-69261051 chr14:69259924-69259936
40	MTA3	chr14:69254975-69264454	GM12878	blood:	n/a	n/a
41	MYC	chr14:69259561-69259779	K562	blood:	n/a	n/a
42	TAF7	chr14:69259213-69259982	H1-hESC	embryonic stem cell:	n/a	n/a
43	ZMIZ1	chr14:69259366-69260318	K562	blood:	n/a	n/a
44	POLR2A	chr14:69257126-69263442	GM12891	blood:	n/a	n/a
45	CREB1	chr14:69259245-69263453	GM12878	blood:	n/a	chr14:69260175-69260188
46	YY1	chr14:69259488-69260553	H1-hESC	embryonic stem cell:	n/a	chr14:69259714-69259728 chr14:69259973-69259984 chr14:69260132-69260143
47	REST	chr14:69259567-69259866	GM12878	blood:	n/a	n/a
48	TCF12	chr14:69259469-69260380	GM12878	blood:	n/a	n/a
49	MAX	chr14:69259255-69261823	HepG2	liver:	n/a	n/a
50	HDAC2	chr14:69257848-69261541	MCF-7	breast:	n/a	chr14:69260034-69260048 chr14:69260037-69260051 chr14:69260032-69260046 chr14:69260036-69260050 chr14:69258035-69258049 chr14:69260118-69260127 chr14:69260038-69260052 chr14:69258424-69258438 chr14:69260039-69260053 chr14:69260035-69260049 chr14:69258425-69258439

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:69259640-69259690	Hela-S3	cervix:	n/a
2	chr14:69259640-69259690	NHBE	bronchial:	n/a
3	chr14:69259640-69259690	HEK293	kidney:	embryo
4	chr14:69259640-69259690	HNPCEpiC	eye:	n/a
5	chr14:69259640-69259690	HepG2	liver:	n/a
6	chr14:69259640-69259690	SK-N-SH	brain:	n/a
7	chr14:69259640-69259690	A549	lung:	n/a
8	chr14:69259640-69259690	NHDF-neo	bronchial:	n/a
9	chr14:69259640-69259690	HRE	kidney:	n/a
10	chr14:69259640-69259690	AG04449	skin:	fetal
11	chr14:69259640-69259690	GM06990	blood:	n/a
12	chr14:69259640-69259690	HEEpiC	esophagus:	n/a
13	chr14:69259640-69259690	HPAEpiC	pulmonary alveolar:	n/a
14	chr14:69259640-69259690	PrEC	prostate:	n/a
15	chr14:69259640-69259690	GM19239	blood:	n/a
16	chr14:69259640-69259690	HMEC	breast:	n/a
17	chr14:69259640-69259690	ovcar-3	ovarian:	n/a
18	chr14:69259640-69259690	IMR90	lung:	fetal
19	chr14:69259640-69259690	GM12878	blood:	n/a
20	chr14:69259640-69259690	GM12891	blood:	n/a
21	chr14:69259640-69259690	HCPEpiC	choroid plexus:	n/a
22	chr14:69259640-69259690	HRCEpiC	kidney:	n/a
23	chr14:69259640-69259690	HAEpiC	amniotic membrane:	n/a
24	chr14:69259640-69259690	HL-60	blood:	n/a
25	chr14:69259640-69259690	HCM	heart:	n/a
26	chr14:69259640-69259690	AoSMC	blood vessel:	n/a
27	chr14:69259640-69259690	Jurkat	blood:	n/a
28	chr14:69259640-69259690	CMK	blood:	n/a
29	chr14:69259640-69259690	GM12892	blood:	n/a
30	chr14:69259640-69259690	HIPEpiC	eye:	n/a
31	chr14:69259640-69259690	K562	blood:	n/a
32	chr14:69259640-69259690	Caco-2	colon:	n/a
33	chr14:69259640-69259690	MCF10A-Er-Src	breast:	n/a
34	chr14:69259640-69259690	SK-N-SH_RA	brain:	n/a
35	chr14:69259640-69259690	RPTEC	kidney:	n/a
36	chr14:69259640-69259690	BJ	skin:	n/a
37	chr14:69259640-69259690	NT2-D1	testis:	n/a
38	chr14:69259640-69259690	SK-N-MC	brain:	n/a
39	chr14:69259640-69259690	AG09319	gingival:	n/a
40	chr14:69259640-69259690	ProgFib	skin:	n/a
41	chr14:69259640-69259690	Hepatocyte	liver:	n/a
42	chr14:69259640-69259690	BE2_C	brain:	n/a
43	chr14:69259640-69259690	HRPEpiC	eye:	n/a
44	chr14:69259640-69259690	ECC-1	luminal epithelium:	n/a
45	chr14:69259640-69259690	HCT-116	colon:	n/a
46	chr14:69259640-69259690	LNCaP	prostate:	n/a
47	chr14:69259640-69259690	AG10803	skin:	n/a
48	chr14:69259640-69259690	AG09309	skin:	n/a
49	chr14:69259640-69259690	U87	brain:	n/a
50	chr14:69259640-69259690	SKMC	muscle:	n/a

No.	Distal block	Cell Line	Cell type
1	chr14:69090615..69103406-chr14:69249821..69264188,29	MCF-7	breast:
2	chr11:116706093..116706992-chr14:69259296..69260170,2	HCT-116	colon:
3	chr14:69235719..69238607-chr14:69258335..69259856,2	MCF-7	breast:
4	chr14:68915233..68917700-chr14:69258123..69259734,2	K562	blood:
5	chr14:68350452..68352881-chr14:69258194..69261622,3	MCF-7	breast:
6	chr14:69259233..69260141-chr15:72668206..72669170,2	Hela-S3	cervix:
7	chr14:68930492..68947840-chr14:69251918..69264148,62	MCF-7	breast:
8	chr14:69259232..69261632-chr8:144820285..144822517,2	MCF-7	breast:
9	chr1:38273291..38273933-chr14:69259620..69260456,2	Hela-S3	cervix:
10	chr1:78149013..78149635-chr14:69259457..69260104,2	Hela-S3	cervix:
11	chr14:69149566..69152941-chr14:69256310..69260478,3	MCF-7	breast:
12	chr14:68282145..68286888-chr14:69256784..69261104,5	MCF-7	breast:
13	chr14:69257700..69260072-chr17:1618563..1621459,2	MCF-7	breast:
14	chr14:69259416..69259940-chr3:119814073..119814926,2	Hela-S3	cervix:
15	chr14:69259268..69260162-chr7:5569495..5570349,2	HCT-116	colon:
16	chr14:69091753..69104091-chr14:69256141..69263760,20	MCF-7	breast:
17	chr14:69258203..69260706-chr17:56707780..56709362,2	MCF-7	breast:
18	chr14:69259502..69261269-chr3:45051532..45054182,2	MCF-7	breast:
19	chr14:68352272..68355022-chr14:69258244..69262334,3	MCF-7	breast:
20	chr14:69259346..69259952-chr17:29421438..29422058,2	HCT-116	colon:
21	chr1:242011436..242011965-chr14:69259007..69259799,2	Hela-S3	cervix:
22	chr12:69004642..69006364-chr14:69258588..69260544,2	MCF-7	breast:
23	chr14:69259303..69260182-chr17:4710143..4710912,2	Hela-S3	cervix:
24	chr14:68331430..68334740-chr14:69259249..69262451,3	MCF-7	breast:
25	chr14:69258720..69263996-chr17:57918463..57922385,5	MCF-7	breast:
26	chr14:68853558..68855258-chr14:69259341..69263299,3	MCF-7	breast:
27	chr13:103248438..103249384-chr14:69259437..69260196,2	HCT-116	colon:
28	chr14:69259073..69259826-chr7:148958357..148959214,2	Hela-S3	cervix:
29	chr14:69259571..69263343-chr17:57914028..57917030,5	MCF-7	breast:
30	chr14:69208318..69211269-chr14:69258281..69259846,2	MCF-7	breast:
31	chr12:110150683..110153052-chr14:69259292..69261807,2	MCF-7	breast:
32	chr14:55595591..55597639-chr14:69257922..69259895,2	MCF-7	breast:
33	chr14:69259658..69260182-chr7:73153015..73153608,2	Hela-S3	cervix:
34	chr1:11969348..11970020-chr14:69259365..69260328,2	HCT-116	colon:

Variant related genes	Relation type
ZFP36L1	TF binding region
ZFP36L1	CpG island
ENSG00000134900	Chromatin interaction
ENSG00000213614	Chromatin interaction
ENSG00000212195	Chromatin interaction
ENSG00000260729	Chromatin interaction
ENSG00000197982	Chromatin interaction
ENSG00000262165	Chromatin interaction
ENSG00000127314	Chromatin interaction
ENSG00000182185	Chromatin interaction
ENSG00000235910	Chromatin interaction
ENSG00000186594	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000259038	Chromatin interaction
ENSG00000036549	Chromatin interaction
ENSG00000196449	Chromatin interaction
ENSG00000129219	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000265444	Chromatin interaction
ENSG00000106077	Chromatin interaction
ENSG00000196712	Chromatin interaction
ENSG00000075914	Chromatin interaction
ENSG00000201801	Chromatin interaction
ENSG00000174371	Chromatin interaction
ENSG00000131981	Chromatin interaction
ENSG00000139438	Chromatin interaction
ENSG00000203499	Chromatin interaction
ENSG00000260339	Chromatin interaction
ENSG00000167716	Chromatin interaction
ENSG00000242622	Chromatin interaction
ENSG00000072121	Chromatin interaction
ENSG00000199004	Chromatin interaction
ENSG00000258623	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10139199	0.87[GIH][hapmap]
rs11158763	1.00[JPT][hapmap]
rs11847049	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11851414	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12148044	0.91[MEX][hapmap]
rs17757282	0.91[MEX][hapmap]
rs2164627	0.83[EUR][1000 genomes]
rs4899260	0.87[GIH][hapmap]
rs4902649	0.89[YRI][hapmap];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57786342	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72731554	0.88[EUR][1000 genomes]
rs8013475	1.00[ASN][1000 genomes]
rs8019383	0.87[GIH][hapmap]
rs971290	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035267	chr14:69230254-69348126	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
2	nsv542123	chr14:69230254-69348126	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
3	nsv902070	chr14:69244214-69308182	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1051533	KIAA0247	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:69253800-69259800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
2	chr14:69254200-69259800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr14:69255000-69259800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr14:69255000-69260400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
5	chr14:69255000-69262400	Active TSS	Right Atrium	heart
6	chr14:69255400-69259800	Transcr. at gene 5' and 3'	NHEK	skin
7	chr14:69255400-69263200	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr14:69255800-69259800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
9	chr14:69256200-69263000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr14:69256400-69263200	Active TSS	Primary T cells from cord blood	blood
11	chr14:69256600-69260600	Active TSS	NH-A	brain
12	chr14:69256600-69263000	Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr14:69256800-69259800	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
14	chr14:69256800-69260800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
15	chr14:69256800-69263200	Active TSS	Small Intestine	intestine
16	chr14:69257000-69260400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr14:69257000-69260800	Active TSS	HSMMtube	muscle
18	chr14:69257200-69259800	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr14:69257200-69261400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr14:69257200-69263200	Active TSS	Aorta	Aorta
21	chr14:69257200-69263400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr14:69257200-69263600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
23	chr14:69257200-69263800	Active TSS	H9 Cell Line	embryonic stem cell
24	chr14:69257400-69259800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr14:69257400-69260800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
26	chr14:69257400-69260800	Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr14:69257400-69261200	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
28	chr14:69257400-69262800	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr14:69257400-69263000	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr14:69257400-69263200	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr14:69257400-69263200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:69257400-69263200	Active TSS	Ovary	ovary
33	chr14:69257400-69263200	Active TSS	Spleen	Spleen
34	chr14:69257400-69263400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:69257600-69259800	Flanking Active TSS	Dnd41	blood
36	chr14:69257600-69260200	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:69257600-69260800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr14:69257600-69260800	Active TSS	Fetal Heart	heart
39	chr14:69257600-69261000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr14:69257600-69263000	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr14:69257600-69263000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
42	chr14:69257600-69263000	Active TSS	Pancreas	Pancrea
43	chr14:69257600-69263200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr14:69257600-69263200	Active TSS	Fetal Kidney	kidney
45	chr14:69257600-69263200	Active TSS	Gastric	stomach
46	chr14:69257600-69263400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr14:69257800-69259800	Bivalent/Poised TSS	HepG2	liver
48	chr14:69257800-69260600	Active TSS	HUVEC	blood vessel
49	chr14:69257800-69260600	Active TSS	Osteobl	bone
50	chr14:69257800-69260800	Active TSS	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links