Variant report

Variant	rs62025030
Chromosome Location	chr15:45019456-45019457
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:241)
CpG islands
(count:0)
Chromatin interactive
region (count:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:241 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZBTB33	chr15:45019142-45019625	K562	blood:	n/a	n/a
2	MAFK	chr15:45018760-45019497	K562	blood:	n/a	chr15:45019185-45019200
3	ZMIZ1	chr15:45018793-45019926	K562	blood:	n/a	n/a
4	STAT3	chr15:45018821-45019929	MCF10A-Er-Src	breast:	n/a	n/a
5	YY1	chr15:45019186-45019481	GM12878	blood:	n/a	n/a
6	MTA3	chr15:45018115-45020373	GM12878	blood:	n/a	n/a
7	ZBTB33	chr15:45019064-45019668	HCT-116	colon:	n/a	n/a
8	POLR2A	chr15:45018660-45019953	GM10847	blood:	n/a	n/a
9	POLR2A	chr15:45018704-45020355	K562	blood:	n/a	n/a
10	BCLAF1	chr15:45018369-45019939	GM12878	blood:	n/a	chr15:45019779-45019788
11	EP300	chr15:45018813-45019487	Hela-S3	cervix:	n/a	chr15:45019017-45019026
12	ARID3A	chr15:45018770-45019696	K562	blood:	n/a	n/a
13	SIN3AK20	chr15:45018776-45019719	HCT-116	colon:	n/a	n/a
14	PML	chr15:45018771-45019876	K562	blood:	n/a	n/a
15	ZNF384	chr15:45018452-45020444	GM12878	blood:	n/a	n/a
16	POLR2A	chr15:45018711-45019760	HCT-116	colon:	n/a	n/a
17	POLR2A	chr15:45018587-45019707	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr15:45019192-45019473	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr15:45018685-45019873	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr15:45018208-45022301	GM12892	blood:	n/a	n/a
21	POLR2A	chr15:45019204-45019542	A549	lung:	n/a	n/a
22	MYC	chr15:45018736-45019518	K562	blood:	n/a	n/a
23	POLR2A	chr15:45017478-45022298	GM12892	blood:	n/a	n/a
24	POU2F2	chr15:45018673-45019722	GM12878	blood:	n/a	n/a
25	STAT3	chr15:45018799-45020021	MCF10A-Er-Src	breast:	n/a	n/a
26	MTA3	chr15:45018319-45020007	GM12878	blood:	n/a	n/a
27	ZC3H11A	chr15:45018756-45019531	K562	blood:	n/a	n/a
28	BCLAF1	chr15:45018720-45019699	K562	blood:	n/a	n/a
29	FOS	chr15:45018427-45019939	MCF10A-Er-Src	breast:	n/a	chr15:45019778-45019788 chr15:45019016-45019027 chr15:45019779-45019787 chr15:45019777-45019789 chr15:45019780-45019791 chr15:45019019-45019026 chr15:45019016-45019027 chr15:45019017-45019026
30	POLR2A	chr15:45018777-45019780	K562	blood:	n/a	n/a
31	FOS	chr15:45018842-45019936	MCF10A-Er-Src	breast:	n/a	chr15:45019778-45019788 chr15:45019016-45019027 chr15:45019779-45019787 chr15:45019777-45019789 chr15:45019780-45019791 chr15:45019019-45019026 chr15:45019016-45019027 chr15:45019017-45019026
32	MAZ	chr15:45018794-45019520	Hela-S3	cervix:	n/a	n/a
33	KAP1	chr15:45018665-45019587	U2OS	brain:	n/a	n/a
34	POLR2A	chr15:45016436-45022852	GM12892	blood:	n/a	n/a
35	STAT1	chr15:45018672-45019490	GM12878	blood:	n/a	n/a
36	RELA	chr15:45018326-45020334	GM18505	blood:	n/a	chr15:45019844-45019853 chr15:45019844-45019853
37	POLR2A	chr15:45016397-45023417	GM12878	blood:	n/a	n/a
38	CEBPB	chr15:45018502-45020066	GM12878	blood:	n/a	n/a
39	POU2F2	chr15:45018595-45019695	GM12891	blood:	n/a	n/a
40	FOXA1	chr15:45018744-45019507	HepG2	liver:	n/a	n/a
41	POLR2A	chr15:45018274-45022504	GM18951	blood:	n/a	n/a
42	HEY1	chr15:45018711-45019591	HepG2	liver:	n/a	n/a
43	POLR2A	chr15:45019091-45019663	ProgFib	skin:	n/a	n/a
44	POLR2A	chr15:45018310-45022158	GM12878	blood:	n/a	n/a
45	NFATC1	chr15:45018537-45019913	GM12878	blood:	n/a	n/a
46	POLR2A	chr15:45019225-45019528	GM12878	blood:	n/a	n/a
47	E2F4	chr15:45018938-45019623	MCF10A-Er-Src	breast:	n/a	n/a
48	EP300	chr15:45018648-45019513	K562	blood:	n/a	chr15:45019017-45019026
49	POLR2A	chr15:45018199-45023414	GM12878	blood:	n/a	n/a
50	POLR2A	chr15:45017530-45022287	GM12891	blood:	n/a	n/a

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:44953583..44958025-chr15:45017998..45023674,11	MCF-7	breast:
2	chr15:45018689..45020763-chr17:63047768..63050748,2	K562	blood:
3	chr15:44875120..44878019-chr15:45017831..45020827,2	K562	blood:
4	chr15:44872601..44874196-chr15:45017482..45020327,2	K562	blood:
5	chr15:45007779..45009819-chr15:45018036..45020681,2	MCF-7	breast:
6	chr15:45019288..45020193-chr17:36981139..36981639,2	Hela-S3	cervix:
7	chr15:45019283..45019796-chr22:29137755..29138571,2	Hela-S3	cervix:
8	chr15:45017018..45019763-chr15:45071670..45073544,3	K562	blood:
9	chr15:44952527..44956177-chr15:45018956..45022716,7	MCF-7	breast:
10	chr15:44952092..44957540-chr15:45017481..45022918,18	K562	blood:
11	chr15:44953895..44957741-chr15:45015371..45022655,19	K562	blood:
12	chr15:45002746..45004470-chr15:45018904..45021049,3	MCF-7	breast:
13	chr1:160312787..160313417-chr15:45018852..45019817,2	Hela-S3	cervix:
14	chr15:45018840..45019519-chr19:1260289..1260836,2	Hela-S3	cervix:
15	chr15:45019424..45020938-chr15:45037298..45039349,2	MCF-7	breast:
16	chr15:44958326..44960851-chr15:45019076..45021871,2	MCF-7	breast:
17	chr15:44988903..44990685-chr15:45017956..45020039,2	K562	blood:
18	chr15:45000863..45005844-chr15:45018710..45023352,9	MCF-7	breast:
19	chr15:45018839..45019555-chr4:140527708..140528430,2	Hela-S3	cervix:
20	chr15:44867452..44871361-chr15:45019003..45021067,3	K562	blood:
21	chr15:45019314..45019918-chr19:14640000..14640567,2	HCT-116	colon:
22	chr1:151227064..151227730-chr15:45018926..45019761,2	Hela-S3	cervix:
23	chr11:65626705..65627544-chr15:45018868..45019519,2	Hela-S3	cervix:
24	chr15:45018290..45020903-chr15:45076318..45078549,2	K562	blood:
25	chr15:44958863..44960885-chr15:45018628..45021313,3	K562	blood:
26	chr15:45018994..45020696-chr15:45049633..45052562,3	K562	blood:
27	chr15:45019374..45020026-chr4:103422757..103423605,2	Hela-S3	cervix:
28	chr15:45018082..45020935-chr15:45038655..45041399,2	K562	blood:
29	chr15:45019169..45019954-chr17:63048747..63049768,4	Hela-S3	cervix:

No data

Variant related genes	Relation type
TRIM69	TF binding region
ENSG00000145391	Chromatin interaction
ENSG00000207707	Chromatin interaction
ENSG00000159352	Chromatin interaction
ENSG00000099797	Chromatin interaction
ENSG00000229474	Chromatin interaction
ENSG00000104133	Chromatin interaction
ENSG00000100209	Chromatin interaction
ENSG00000108296	Chromatin interaction
ENSG00000172757	Chromatin interaction
ENSG00000185880	Chromatin interaction
ENSG00000183765	Chromatin interaction
ENSG00000132002	Chromatin interaction
ENSG00000266598	Chromatin interaction
ENSG00000166710	Chromatin interaction
ENSG00000172732	Chromatin interaction
ENSG00000109320	Chromatin interaction
ENSG00000206957	Chromatin interaction
ENSG00000162736	Chromatin interaction
ENSG00000122218	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs1288092	1.00[ASN][1000 genomes]
rs1299814	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1720727	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17229438	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17518229	0.85[EUR][1000 genomes]
rs17518621	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17588988	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17590443	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2123148	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2218929	1.00[ASN][1000 genomes]
rs2443977	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28489322	0.85[EUR][1000 genomes]
rs28490581	0.85[EUR][1000 genomes]
rs28733998	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28857509	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2924121	1.00[ASN][1000 genomes]
rs35462944	0.85[EUR][1000 genomes]
rs59030658	0.80[EUR][1000 genomes]
rs62024992	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62024993	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62024994	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62025031	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62025033	1.00[ASN][1000 genomes]
rs62025036	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62025965	0.85[EUR][1000 genomes]
rs62025966	0.85[EUR][1000 genomes]
rs62025971	0.85[EUR][1000 genomes]
rs62025996	1.00[ASN][1000 genomes]
rs62025997	1.00[ASN][1000 genomes]
rs62025998	1.00[ASN][1000 genomes]
rs7167663	0.80[EUR][1000 genomes]
rs7168673	0.85[EUR][1000 genomes]
rs7170996	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7175365	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7175751	0.83[EUR][1000 genomes]
rs7181308	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7181488	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7182388	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7182597	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7183658	0.85[EUR][1000 genomes]
rs8023272	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8023794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8031964	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8033099	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8036450	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8037029	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8042821	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8043138	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases
2	esv2758380	chr15:44968868-45422842	Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
3	esv2760029	chr15:44968868-45422842	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
4	nsv832990	chr15:44990765-45162714	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs62025030	TRIM69	cis	Muscle Skeletal	GTEx
rs62025030	TRIM69	cis	Artery Aorta	GTEx
rs62025030	TRIM69	cis	Artery Tibial	GTEx

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:45004600-45020600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr15:45009400-45020000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr15:45009400-45020600	Weak transcription	Brain Angular Gyrus	brain
4	chr15:45009400-45020600	Weak transcription	Pancreas	Pancrea
5	chr15:45009400-45020600	Weak transcription	Right Ventricle	heart
6	chr15:45009400-45020800	Weak transcription	Aorta	Aorta
7	chr15:45009600-45020600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr15:45009600-45020800	Weak transcription	Fetal Brain Male	brain
9	chr15:45010200-45020600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr15:45010200-45020600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr15:45010200-45020600	Weak transcription	Fetal Kidney	kidney
12	chr15:45010600-45020200	Weak transcription	Psoas Muscle	Psoas
13	chr15:45010600-45020600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr15:45010600-45020600	Weak transcription	Brain Substantia Nigra	brain
15	chr15:45010800-45020600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr15:45010800-45020600	Weak transcription	Ovary	ovary
17	chr15:45011000-45020600	Weak transcription	Brain Hippocampus Middle	brain
18	chr15:45011000-45020600	Weak transcription	Fetal Stomach	stomach
19	chr15:45011200-45019800	Weak transcription	Brain Anterior Caudate	brain
20	chr15:45011200-45020000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr15:45011200-45020000	Weak transcription	Fetal Muscle Trunk	muscle
22	chr15:45011400-45020600	Weak transcription	Fetal Lung	lung
23	chr15:45011800-45020800	Weak transcription	Gastric	stomach
24	chr15:45013200-45019800	Weak transcription	Spleen	Spleen
25	chr15:45015400-45021000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
26	chr15:45016000-45020600	Enhancers	Fetal Thymus	thymus
27	chr15:45016800-45021000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr15:45017000-45020400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
29	chr15:45017600-45020400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr15:45017600-45020400	Enhancers	Small Intestine	intestine
31	chr15:45017600-45020600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr15:45018000-45021000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
33	chr15:45018200-45020200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
34	chr15:45018200-45020600	Flanking Active TSS	Primary T cells from cord blood	blood
35	chr15:45018200-45020600	Enhancers	Liver	Liver
36	chr15:45018200-45020600	Enhancers	Stomach Mucosa	stomach
37	chr15:45018200-45021000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
38	chr15:45018400-45019600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr15:45018400-45019600	Enhancers	Placenta	Placenta
40	chr15:45018400-45020200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr15:45018400-45020400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr15:45018400-45020400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr15:45018400-45020400	Enhancers	HMEC	breast
44	chr15:45018400-45020400	Enhancers	NH-A	brain
45	chr15:45018400-45020600	Enhancers	Fetal Intestine Large	intestine
46	chr15:45018400-45020600	Enhancers	Fetal Intestine Small	intestine
47	chr15:45018400-45020600	Enhancers	Fetal Muscle Leg	muscle
48	chr15:45018400-45020600	Enhancers	NHLF	lung
49	chr15:45018400-45020600	Enhancers	Osteobl	bone
50	chr15:45018400-45021000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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