Variant report

Variant	rs55851751
Chromosome Location	chr15:41196552-41196553
allele	C/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	RAD21	chr15:41196160-41196556	ECC-1	luminal epithelium:	n/a	chr15:41196384-41196398 chr15:41196383-41196402
2	RUNX3	chr15:41196126-41196572	GM12878	blood:	n/a	n/a
3	SMC3	chr15:41196180-41196585	K562	blood:	n/a	chr15:41196384-41196398
4	GABPA	chr15:41196119-41196571	H1-hESC	embryonic stem cell:	n/a	n/a
5	YY1	chr15:41196132-41196593	HepG2	liver:	n/a	n/a
6	CTCF	chr15:41196000-41196570	H1-hESC	embryonic stem cell:	n/a	chr15:41196385-41196398 chr15:41196382-41196400 chr15:41196384-41196405 chr15:41196383-41196399
7	PAX5	chr15:41196125-41196620	GM12878	blood:	n/a	n/a
8	RAD21	chr15:41196188-41196555	A549	lung:	n/a	chr15:41196384-41196398 chr15:41196383-41196402
9	RAD21	chr15:41196120-41196571	HepG2	liver:	n/a	chr15:41196384-41196398 chr15:41196383-41196402
10	RAD21	chr15:41196054-41196601	HCT-116	colon:	n/a	chr15:41196384-41196398 chr15:41196383-41196402
11	RAD21	chr15:41196109-41196576	A549	lung:	n/a	chr15:41196384-41196398 chr15:41196383-41196402
12	ZNF143	chr15:41196146-41196563	GM12878	blood:	n/a	n/a
13	RAD21	chr15:41195995-41196609	SK-N-SH	brain:	n/a	chr15:41196384-41196398 chr15:41196383-41196402
14	TEAD4	chr15:41196155-41196581	K562	blood:	n/a	n/a
15	RCOR1	chr15:41196189-41196599	K562	blood:	n/a	n/a
16	CTCF	chr15:41196085-41196566	HepG2	liver:	n/a	chr15:41196385-41196398 chr15:41196382-41196400 chr15:41196384-41196405 chr15:41196383-41196399
17	JUN	chr15:41196014-41196577	K562	blood:	n/a	n/a
18	RAD21	chr15:41196033-41196591	H1-hESC	embryonic stem cell:	n/a	chr15:41196384-41196398 chr15:41196383-41196402
19	MXI1	chr15:41195918-41196612	SK-N-SH	brain:	n/a	n/a
20	CTCF	chr15:41195772-41196749	HCT-116	colon:	n/a	chr15:41196385-41196398 chr15:41196382-41196400 chr15:41196384-41196405 chr15:41196383-41196399
21	CTCF	chr15:41196098-41196572	A549	lung:	n/a	chr15:41196385-41196398 chr15:41196382-41196400 chr15:41196384-41196405 chr15:41196383-41196399
22	CTCF	chr15:41195685-41196622	A549	lung:	n/a	chr15:41196385-41196398 chr15:41196382-41196400 chr15:41196384-41196405 chr15:41196383-41196399
23	SMC3	chr15:41196171-41196570	HepG2	liver:	n/a	chr15:41196174-41196181 chr15:41196384-41196398
24	CEBPB	chr15:41196195-41196569	Hela-S3	cervix:	n/a	n/a
25	ZNF263	chr15:41196071-41196556	HEK293-T-REx	kidney:	n/a	chr15:41196468-41196477
26	SMC3	chr15:41196156-41196584	GM12878	blood:	n/a	chr15:41196174-41196181 chr15:41196384-41196398
27	CHD1	chr15:41196149-41196603	IMR90	lung:	n/a	n/a
28	RAD21	chr15:41195995-41196552	HCT-116	colon:	n/a	chr15:41196384-41196398 chr15:41196383-41196402
29	SMC3	chr15:41195942-41196751	SK-N-SH	brain:	n/a	chr15:41196174-41196181 chr15:41196384-41196398
30	CTCF	chr15:41195966-41196594	IMR90	lung:	n/a	chr15:41196385-41196398 chr15:41196382-41196400 chr15:41196384-41196405 chr15:41196383-41196399
31	POLR2A	chr15:41195874-41196573	GM12878	blood:	n/a	n/a
32	CEBPB	chr15:41196118-41196590	MCF-7	breast:	n/a	n/a
33	ZNF143	chr15:41196150-41196557	H1-hESC	embryonic stem cell:	n/a	n/a
34	RAD21	chr15:41196008-41196580	MCF-7	breast:	n/a	chr15:41196384-41196398 chr15:41196383-41196402
35	POLR2A	chr15:41196165-41196563	Hela-S3	cervix:	n/a	n/a
36	CTCF	chr15:41195976-41196608	GM12878	blood:	n/a	chr15:41196385-41196398 chr15:41196382-41196400 chr15:41196384-41196405 chr15:41196383-41196399
37	RFX5	chr15:41196134-41196556	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr15:41194562-41196552	HL-60	blood:	n/a	n/a
39	CTCF	chr15:41196109-41196591	K562	blood:	n/a	chr15:41196385-41196398 chr15:41196382-41196400 chr15:41196384-41196405 chr15:41196383-41196399
40	RAD21	chr15:41196138-41196622	IMR90	lung:	n/a	chr15:41196384-41196398 chr15:41196383-41196402
41	RAD21	chr15:41196135-41196562	SK-N-SH_RA	brain:	n/a	chr15:41196384-41196398 chr15:41196383-41196402
42	RAD21	chr15:41196179-41196600	HepG2	liver:	n/a	chr15:41196384-41196398 chr15:41196383-41196402
43	RAD21	chr15:41196118-41196617	Hela-S3	cervix:	n/a	chr15:41196384-41196398 chr15:41196383-41196402
44	CTCF	chr15:41196101-41196558	H1-hESC	embryonic stem cell:	n/a	chr15:41196385-41196398 chr15:41196382-41196400 chr15:41196384-41196405 chr15:41196383-41196399
45	FOXM1	chr15:41196043-41196616	GM12878	blood:	n/a	n/a
46	SMC3	chr15:41196093-41196627	Hela-S3	cervix:	n/a	chr15:41196174-41196181 chr15:41196384-41196398
47	RAD21	chr15:41196076-41196582	ECC-1	luminal epithelium:	n/a	chr15:41196384-41196398 chr15:41196383-41196402
48	MYC	chr15:41196284-41196577	HUVEC	blood vessel:	n/a	n/a
49	SIN3AK20	chr15:41196118-41196567	H1-hESC	embryonic stem cell:	n/a	n/a
50	POLR2A	chr15:41194559-41196592	HL-60	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr15:41195854..41196832-chr15:41314349..41315360,6	K562	blood:
2	chr15:41195521..41197212-chr15:41201966..41205731,3	K562	blood:
3	chr15:41195887..41198690-chr15:41257429..41259190,2	K562	blood:
4	chr15:41196280..41196828-chr15:41233825..41234733,2	K562	blood:
5	chr15:41195697..41196981-chr15:41476244..41477668,8	K562	blood:
6	chr15:41196271..41197123-chr15:41230429..41231022,2	MCF-7	breast:
7	chr15:40811878..40812679-chr15:41195874..41196838,2	K562	blood:
8	chr15:41195189..41208751-chr15:41218816..41225232,20	MCF-7	breast:
9	chr15:41195654..41197796-chr15:41319760..41321629,2	K562	blood:
10	chr15:41195654..41197212-chr15:41203181..41205731,2	K562	blood:
11	chr15:41194927..41205036-chr15:41218861..41227276,20	MCF-7	breast:
12	chr15:41136563..41138261-chr15:41195693..41197954,2	MCF-7	breast:
13	chr15:41189733..41192920-chr15:41195198..41198883,3	MCF-7	breast:
14	chr15:41183373..41186021-chr15:41194611..41197001,2	MCF-7	breast:
15	chr15:41196376..41196980-chr15:41623575..41624325,2	K562	blood:
16	chr15:41135781..41139367-chr15:41195514..41200270,4	MCF-7	breast:
17	chr15:41193987..41204234-chr15:41215915..41223506,12	K562	blood:
18	chr15:41195706..41196650-chr15:41206529..41207456,2	K562	blood:

Variant related genes	Relation type
ENSG00000251161	TF binding region
ENSG00000128908	Chromatin interaction
ENSG00000166145	Chromatin interaction
ENSG00000128917	Chromatin interaction
ENSG00000261183	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs28436138	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57022654	1.00[AMR][1000 genomes]
rs58893179	1.00[AMR][1000 genomes]
rs59096643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59204074	1.00[AMR][1000 genomes]
rs61336574	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7162253	1.00[AMR][1000 genomes]
rs74011889	1.00[AMR][1000 genomes]
rs74011890	1.00[AMR][1000 genomes]
rs74011893	1.00[AMR][1000 genomes]
rs74014709	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74014710	1.00[AMR][1000 genomes]
rs8030883	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8033990	0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv904101	chr15:40979651-41275014	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	esv1819092	chr15:41017682-41255750	Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
3	nsv904102	chr15:41046883-41201699	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv904103	chr15:41123172-41275014	Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv904104	chr15:41149824-41234932	Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
6	nsv904105	chr15:41149824-41275014	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
7	esv1819792	chr15:41184722-41234825	Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 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	chr15:41188200-41197200	Strong transcription	HUES6 Cell Line	embryonic stem cell
2	chr15:41188200-41197200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr15:41188200-41197600	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr15:41188200-41197800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr15:41188200-41198000	Strong transcription	HUES48 Cell Line	embryonic stem cell
6	chr15:41188200-41198800	Weak transcription	Small Intestine	intestine
7	chr15:41188400-41197000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr15:41188400-41197200	Strong transcription	HepG2	liver
9	chr15:41188400-41197400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr15:41188400-41197600	Strong transcription	Osteobl	bone
11	chr15:41188400-41197800	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr15:41188400-41198000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:41188400-41198000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr15:41188600-41196800	Strong transcription	Fetal Intestine Large	intestine
15	chr15:41189800-41198200	Strong transcription	Fetal Brain Female	brain
16	chr15:41190000-41197400	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr15:41190800-41197200	Strong transcription	H9 Cell Line	embryonic stem cell
18	chr15:41190800-41197400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr15:41190800-41197600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr15:41191000-41197400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
21	chr15:41193200-41198000	Weak transcription	Psoas Muscle	Psoas
22	chr15:41193400-41196800	Strong transcription	Fetal Intestine Small	intestine
23	chr15:41193400-41197400	Strong transcription	Brain Germinal Matrix	brain
24	chr15:41193400-41197400	Strong transcription	Fetal Stomach	stomach
25	chr15:41193600-41198200	Weak transcription	K562	blood
26	chr15:41194000-41196600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr15:41194400-41197400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr15:41194600-41196800	Genic enhancers	Fetal Thymus	thymus
29	chr15:41194600-41197000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr15:41194600-41197000	Genic enhancers	Esophagus	oesophagus
31	chr15:41194600-41197000	Genic enhancers	Placenta	Placenta
32	chr15:41194600-41197000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
33	chr15:41194600-41197200	Genic enhancers	Fetal Muscle Leg	muscle
34	chr15:41194600-41197400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr15:41194600-41197400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr15:41194800-41197200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr15:41194800-41197200	Strong transcription	Dnd41	blood
38	chr15:41194800-41198000	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr15:41195000-41197200	Genic enhancers	Adipose Nuclei	Adipose
40	chr15:41195200-41196600	Genic enhancers	Brain Hippocampus Middle	brain
41	chr15:41195200-41197000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr15:41195200-41197400	Genic enhancers	Fetal Muscle Trunk	muscle
43	chr15:41195200-41197400	Strong transcription	NH-A	brain
44	chr15:41195400-41196600	Genic enhancers	Pancreas	Pancrea
45	chr15:41195400-41198400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr15:41195600-41196600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr15:41195600-41198800	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr15:41195800-41196600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
49	chr15:41195800-41197200	Genic enhancers	Brain Angular Gyrus	brain
50	chr15:41195800-41197200	Genic enhancers	HUVEC	blood vessel

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