Variant report

Variant	rs266124
Chromosome Location	chr19:51296851-51296852
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:105)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:105 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:51294162-51303858	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL3	chr19:51296723-51300831	A549	lung:	n/a	chr19:51296878-51296891 chr19:51299623-51299631
3	POLR2A	chr19:51296363-51305119	HepG2	liver:	n/a	n/a
4	POLR2A	chr19:51292846-51302413	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr19:51296691-51300705	GM19099	blood:	n/a	n/a
6	POLR2A	chr19:51294069-51301549	U87	brain:	n/a	n/a
7	POLR2A	chr19:51294148-51303725	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr19:51296692-51299975	U87	brain:	n/a	n/a
9	POLR2A	chr19:51295539-51303742	GM12891	blood:	n/a	n/a
10	POLR2A	chr19:51294090-51301585	U87	brain:	n/a	n/a
11	POLR2A	chr19:51296564-51303843	HL-60	blood:	n/a	n/a
12	POLR2A	chr19:51293982-51303950	GM12878	blood:	n/a	n/a
13	POLR2A	chr19:51296661-51302056	GM12878	blood:	n/a	n/a
14	POLR2A	chr19:51292818-51303789	GM12891	blood:	n/a	n/a
15	TCF12	chr19:51296667-51300851	A549	lung:	n/a	n/a
16	PBX3	chr19:51296673-51300403	A549	lung:	n/a	n/a
17	POU2F2	chr19:51296090-51300827	GM12891	blood:	n/a	chr19:51297417-51297438 chr19:51299707-51299719
18	POLR2A	chr19:51296807-51297389	HepG2	liver:	n/a	n/a
19	PML	chr19:51296721-51300474	K562	blood:	n/a	n/a
20	POLR2A	chr19:51296584-51300695	GM12878	blood:	n/a	n/a
21	POLR2A	chr19:51296672-51301538	HUVEC	blood vessel:	n/a	n/a
22	POLR2A	chr19:51292766-51304914	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr19:51296785-51303813	GM18951	blood:	n/a	n/a
24	POU2F2	chr19:51296727-51300495	GM12891	blood:	n/a	chr19:51297417-51297438 chr19:51299707-51299719
25	POLR2A	chr19:51295423-51303985	K562	blood:	n/a	n/a
26	MTA3	chr19:51296627-51299787	GM12878	blood:	n/a	n/a
27	POU2F2	chr19:51296712-51296851	GM12878	blood:	n/a	n/a
28	POLR2A	chr19:51293608-51303838	GM12892	blood:	n/a	n/a
29	PML	chr19:51296509-51300609	GM12878	blood:	n/a	chr19:51300599-51300607
30	POLR2A	chr19:51292681-51303883	GM12891	blood:	n/a	n/a
31	BCL3	chr19:51296816-51297418	GM12878	blood:	n/a	chr19:51296878-51296891
32	POLR2A	chr19:51293489-51300654	MCF10A-Er-Src	breast:	n/a	n/a
33	POLR2A	chr19:51295184-51303796	GM12878	blood:	n/a	n/a
34	ELF1	chr19:51296799-51300222	A549	lung:	n/a	n/a
35	POLR2A	chr19:51296763-51303823	GM18505	blood:	n/a	n/a
36	BCL3	chr19:51296595-51300613	A549	lung:	n/a	chr19:51296878-51296891 chr19:51299623-51299631
37	POLR2A	chr19:51296543-51303868	K562	blood:	n/a	n/a
38	POLR2A	chr19:51296783-51297117	A549	lung:	n/a	n/a
39	POLR2A	chr19:51296618-51300536	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr19:51296750-51303766	GM19193	blood:	n/a	n/a
41	MTA3	chr19:51295993-51300743	GM12878	blood:	n/a	n/a
42	POLR2A	chr19:51296028-51303799	GM12891	blood:	n/a	n/a
43	POLR2A	chr19:51296176-51303699	GM18526	blood:	n/a	n/a
44	POLR2A	chr19:51290649-51303858	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr19:51296839-51296950	HUVEC	blood vessel:	n/a	n/a
46	ELF1	chr19:51296763-51297379	GM12878	blood:	n/a	n/a
47	POLR2A	chr19:51296124-51297413	H1-hESC	embryonic stem cell:	n/a	n/a
48	CHD2	chr19:51296793-51300428	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr19:51296650-51302255	PANC-1	pancreas:	n/a	n/a
50	TEAD4	chr19:51296771-51300470	K562	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:51295777..51298371-chr5:133339070..133341774,2	MCF-7	breast:
2	chr19:51293560..51298277-chr19:51413419..51418761,7	K562	blood:
3	chr19:51296429..51299323-chr19:51371370..51374659,5	K562	blood:
4	chr19:51296075..51301998-chr19:51356744..51362542,6	K562	blood:
5	chr19:51207455..51209701-chr19:51296263..51298998,3	K562	blood:
6	chr19:51287157..51292690-chr19:51292694..51297699,7	MCF-7	breast:
7	chr19:51226381..51234126-chr19:51290973..51302468,19	K562	blood:
8	chr19:51295821..51300740-chr19:51378160..51386074,8	K562	blood:
9	chr19:51295380..51297114-chr19:51411572..51413706,2	K562	blood:
10	chr19:51295821..51300740-chr19:51378160..51386074,7	K562	blood:
11	chr19:51191963..51194196-chr19:51295538..51298347,2	K562	blood:
12	chr19:51206207..51210755-chr19:51296263..51301273,7	K562	blood:
13	chr19:51226381..51234126-chr19:51290973..51298243,11	K562	blood:
14	chr19:51225708..51229784-chr19:51294422..51298363,4	MCF-7	breast:
15	chr1:51984448..51984999-chr19:51296761..51297730,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000268375	TF binding region
ENSG00000167749	Chromatin interaction
ENSG00000261341	Chromatin interaction
ENSG00000105472	Chromatin interaction
ENSG00000271737	Chromatin interaction
ENSG00000167751	Chromatin interaction
ENSG00000213585	Chromatin interaction
ENSG00000161681	Chromatin interaction
ENSG00000085832	Chromatin interaction
ENSG00000142515	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10412862	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10412900	1.00[JPT][hapmap];0.91[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12978675	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12979334	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12979351	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17800375	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2162784	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2247216	1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap]
rs2560932	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2659060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2659063	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[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2659064	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[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs266112	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs266121	0.84[CHB][hapmap];0.82[JPT][hapmap];0.85[ASN][1000 genomes]
rs3212855	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs36046465	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3810283	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3810284	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57028658	0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs57906560	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs58596241	0.88[ASN][1000 genomes]
rs59925776	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60175380	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60471273	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60817149	0.80[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs67085056	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67367861	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73584988	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73584997	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73585002	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73587469	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73587471	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1060760	chr19:50883425-51463712	ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	nsv1058177	chr19:50984774-51463712	Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	84 gene(s)	inside rSNPs	diseases
3	nsv912288	chr19:51283791-51334355	Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
4	nsv912289	chr19:51283791-51335943	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases
5	nsv912290	chr19:51283791-51344483	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	60 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:51287000-51298400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr19:51287000-51298400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr19:51287200-51301200	Weak transcription	Primary B cells from cord blood	blood
4	chr19:51287400-51300000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:51289800-51298600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:51290000-51298800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:51291800-51303400	Weak transcription	Fetal Kidney	kidney
8	chr19:51292600-51297200	Weak transcription	Right Atrium	heart
9	chr19:51293200-51297800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr19:51293400-51300000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
11	chr19:51295600-51301000	Weak transcription	HepG2	liver
12	chr19:51295800-51299200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr19:51296000-51299000	Weak transcription	Dnd41	blood
14	chr19:51296000-51300200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr19:51296000-51300400	Weak transcription	Fetal Lung	lung
16	chr19:51296200-51298600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr19:51296400-51297400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr19:51296400-51298200	Weak transcription	Brain Germinal Matrix	brain
19	chr19:51296400-51298400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr19:51296400-51300600	Weak transcription	Brain Angular Gyrus	brain
21	chr19:51296600-51298600	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr19:51296600-51298600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr19:51296600-51304200	Weak transcription	HSMM	muscle
24	chr19:51296800-51297200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr19:51296800-51298000	Enhancers	Fetal Intestine Small	intestine
26	chr19:51296800-51298200	Enhancers	H1 Cell Line	embryonic stem cell
27	chr19:51296800-51299800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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