Variant report

Variant	rs274155
Chromosome Location	chr19:56683224-56683225
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	CTCF	chr19:56683190-56683598	HepG2	liver:	n/a	chr19:56683431-56683449 chr19:56683432-56683448
2	RAD21	chr19:56683220-56683617	GM12878	blood:	n/a	chr19:56683414-56683427
3	GABPA	chr19:56683207-56683543	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr19:56683210-56683671	HepG2	liver:	n/a	chr19:56683414-56683427
5	RAD21	chr19:56683147-56683779	HCT-116	colon:	n/a	chr19:56683414-56683427
6	CEBPB	chr19:56683200-56683624	MCF-7	breast:	n/a	n/a
7	CEBPB	chr19:56683210-56683588	HepG2	liver:	n/a	n/a
8	RAD21	chr19:56683185-56683657	A549	lung:	n/a	chr19:56683414-56683427
9	CTCF	chr19:56683222-56683647	GM12878	blood:	n/a	chr19:56683431-56683449 chr19:56683432-56683448
10	CEBPB	chr19:56683209-56683579	K562	blood:	n/a	n/a
11	RAD21	chr19:56683211-56683642	IMR90	lung:	n/a	chr19:56683414-56683427
12	REST	chr19:56683212-56683539	K562	blood:	n/a	chr19:56683376-56683389
13	CTCF	chr19:56683122-56683769	HCT-116	colon:	n/a	chr19:56683431-56683449 chr19:56683432-56683448
14	CTCF	chr19:56683154-56683719	K562	blood:	n/a	chr19:56683431-56683449 chr19:56683432-56683448
15	CEBPB	chr19:56683178-56683594	K562	blood:	n/a	n/a
16	MAZ	chr19:56683140-56683650	IMR90	lung:	n/a	n/a
17	CTCF	chr19:56683177-56683615	H1-hESC	embryonic stem cell:	n/a	chr19:56683431-56683449 chr19:56683432-56683448
18	RUNX3	chr19:56683210-56683611	GM12878	blood:	n/a	n/a
19	MAZ	chr19:56683191-56683607	HepG2	liver:	n/a	n/a
20	RAD21	chr19:56683117-56683718	H1-hESC	embryonic stem cell:	n/a	chr19:56683414-56683427
21	CEBPB	chr19:56683219-56683598	HepG2	liver:	n/a	n/a
22	CEBPB	chr19:56683215-56683639	ECC-1	luminal epithelium:	n/a	n/a
23	REST	chr19:56683200-56683576	PFSK-1	brain:	n/a	chr19:56683376-56683389
24	RAD21	chr19:56683114-56683792	SK-N-SH	brain:	n/a	chr19:56683414-56683427
25	CTCF	chr19:56683171-56683604	H1-hESC	embryonic stem cell:	n/a	chr19:56683431-56683449 chr19:56683432-56683448
26	CEBPB	chr19:56683207-56683607	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr19:56683159-56683595	MCF-7	breast:	n/a	chr19:56683431-56683449 chr19:56683432-56683448
28	CTCF	chr19:56683142-56683709	HCT-116	colon:	n/a	chr19:56683431-56683449 chr19:56683432-56683448
29	RAD21	chr19:56683120-56683746	MCF-7	breast:	n/a	chr19:56683414-56683427
30	CEBPB	chr19:56683209-56683592	A549	lung:	n/a	n/a
31	YY1	chr19:56683224-56683590	GM12892	blood:	n/a	n/a
32	RAD21	chr19:56683163-56683636	ECC-1	luminal epithelium:	n/a	chr19:56683414-56683427
33	RAD21	chr19:56683183-56683742	HCT-116	colon:	n/a	chr19:56683414-56683427
34	RAD21	chr19:56683197-56683743	MCF-7	breast:	n/a	chr19:56683414-56683427
35	CTCF	chr19:56683037-56683840	SK-N-SH	brain:	n/a	chr19:56683431-56683449 chr19:56683432-56683448
36	MAZ	chr19:56683204-56683640	K562	blood:	n/a	n/a
37	ELF1	chr19:56683166-56683602	HepG2	liver:	n/a	n/a
38	JUND	chr19:56683179-56683591	H1-hESC	embryonic stem cell:	n/a	n/a
39	RAD21	chr19:56683157-56683615	SK-N-SH_RA	brain:	n/a	chr19:56683414-56683427
40	SMC3	chr19:56683109-56683746	SK-N-SH	brain:	n/a	chr19:56683436-56683446 chr19:56683433-56683447
41	MAZ	chr19:56683205-56683563	GM12878	blood:	n/a	n/a
42	RAD21	chr19:56683158-56683671	H1-hESC	embryonic stem cell:	n/a	chr19:56683414-56683427
43	ELF1	chr19:56683170-56683661	K562	blood:	n/a	n/a
44	CTCF	chr19:56683062-56683743	A549	lung:	n/a	chr19:56683431-56683449 chr19:56683432-56683448
45	RAD21	chr19:56683216-56683624	HepG2	liver:	n/a	chr19:56683414-56683427
46	CEBPB	chr19:56683213-56683733	A549	lung:	n/a	n/a
47	RAD21	chr19:56683170-56683646	A549	lung:	n/a	chr19:56683414-56683427
48	ELF1	chr19:56683186-56683513	HepG2	liver:	n/a	n/a
49	RAD21	chr19:56683193-56683608	ECC-1	luminal epithelium:	n/a	chr19:56683414-56683427
50	BHLHE40	chr19:56683197-56683530	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:56682699..56684265-chr19:56686805..56689043,2	K562	blood:
2	chr19:56587474..56588459-chr19:56682965..56683942,4	MCF-7	breast:
3	chr19:56616234..56617536-chr19:56682954..56683960,8	MCF-7	breast:
4	chr19:56666517..56667150-chr19:56682928..56683556,2	MCF-7	breast:
5	chr19:56587463..56588432-chr19:56682914..56684123,6	K562	blood:
6	chr19:56591073..56592693-chr19:56682992..56683859,5	MCF-7	breast:
7	chr19:56591703..56592615-chr19:56682968..56683865,3	K562	blood:

Variant related genes	Relation type
GALP	TF binding region
ENSG00000223060	Chromatin interaction
ENSG00000197487	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs16987029	0.95[JPT][hapmap]
rs16987031	0.95[JPT][hapmap]
rs2631652	0.91[ASN][1000 genomes]
rs274141	0.85[ASN][1000 genomes]
rs274144	0.85[ASN][1000 genomes]
rs274145	0.83[ASN][1000 genomes]
rs274154	0.86[CHB][hapmap]
rs274156	0.90[CHB][hapmap];0.95[JPT][hapmap];0.94[ASN][1000 genomes]
rs274159	0.90[CHB][hapmap];0.83[JPT][hapmap]
rs274163	0.95[JPT][hapmap];0.81[ASN][1000 genomes]
rs274165	0.81[CHB][hapmap];1.00[JPT][hapmap]
rs274168	1.00[JPT][hapmap]
rs3103059	0.85[ASN][1000 genomes]
rs3103060	0.82[ASN][1000 genomes]
rs480528	0.85[ASN][1000 genomes]
rs481291	0.93[ASN][1000 genomes]
rs482506	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs487922	0.85[ASN][1000 genomes]
rs488118	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs488196	0.85[ASN][1000 genomes]
rs565171	0.93[ASN][1000 genomes]
rs581486	0.87[CHB][hapmap]
rs61283021	0.91[ASN][1000 genomes]
rs650832	0.83[ASN][1000 genomes]
rs651800	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs652204	0.85[ASN][1000 genomes]
rs671061	0.93[ASN][1000 genomes]
rs672956	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs901476	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056598	chr19:56331762-56703428	Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
2	nsv1064371	chr19:56418215-56842450	ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1057316	chr19:56418215-56849458	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
4	nsv580354	chr19:56505685-56723492	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
5	nsv523651	chr19:56537528-56707048	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
6	nsv1057820	chr19:56555942-56720262	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	nsv528998	chr19:56578238-56707048	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
8	nsv912513	chr19:56592286-56685463	Flanking Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
9	nsv521744	chr19:56592286-56686953	Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
10	nsv912516	chr19:56601298-56981382	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
11	nsv528361	chr19:56638845-56688570	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:56672600-56684200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr19:56672600-56685600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr19:56672800-56683400	Weak transcription	Fetal Intestine Large	intestine
4	chr19:56673000-56690000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr19:56682000-56686400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:56682000-56687000	Weak transcription	Spleen	Spleen
7	chr19:56682200-56683600	Enhancers	HepG2	liver
8	chr19:56682200-56685400	Weak transcription	K562	blood
9	chr19:56682400-56683600	Weak transcription	Colonic Mucosa	Colon
10	chr19:56683200-56683400	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr19:56683200-56683400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr19:56683200-56683400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr19:56683200-56683400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr19:56683200-56683400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr19:56683200-56683400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr19:56683200-56683400	Enhancers	Adipose Nuclei	Adipose
17	chr19:56683200-56683400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr19:56683200-56683400	Enhancers	Duodenum Mucosa	Duodenum
19	chr19:56683200-56683400	Enhancers	Esophagus	oesophagus
20	chr19:56683200-56683400	Enhancers	Fetal Muscle Trunk	muscle
21	chr19:56683200-56683400	Enhancers	Fetal Muscle Leg	muscle
22	chr19:56683200-56683400	Enhancers	Fetal Stomach	stomach
23	chr19:56683200-56683400	Enhancers	Pancreas	Pancrea
24	chr19:56683200-56683400	Enhancers	Rectal Smooth Muscle	rectum
25	chr19:56683200-56683400	Enhancers	Hela-S3	cervix
26	chr19:56683200-56683400	Enhancers	Osteobl	bone
27	chr19:56683200-56683600	Enhancers	Primary B cells from peripheral blood	blood
28	chr19:56683200-56683600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
29	chr19:56683200-56683600	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr19:56683200-56683600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr19:56683200-56683600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr19:56683200-56683600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr19:56683200-56683600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr19:56683200-56683600	Enhancers	Liver	Liver
35	chr19:56683200-56683600	Enhancers	Brain Substantia Nigra	brain
36	chr19:56683200-56683600	Enhancers	Dnd41	blood
37	chr19:56683200-56683600	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr19:56683200-56683800	Enhancers	Primary hematopoietic stem cells	blood
39	chr19:56683200-56683800	Enhancers	Primary hematopoietic stem cells short term culture	blood
40	chr19:56683200-56684000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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