Variant report

Variant	rs1262751
Chromosome Location	chr19:36195056-36195057
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	MAX	chr19:36195047-36195642	H1-hESC	embryonic stem cell:	n/a	chr19:36195404-36195411 chr19:36195403-36195412 chr19:36195402-36195412 chr19:36195402-36195411 chr19:36195401-36195416
2	NFYB	chr19:36195045-36195535	K562	blood:	n/a	chr19:36195366-36195381 chr19:36195252-36195267 chr19:36195365-36195377 chr19:36195252-36195266 chr19:36195366-36195380 chr19:36195219-36195231 chr19:36195252-36195267 chr19:36195366-36195381 chr19:36195368-36195378 chr19:36195254-36195264 chr19:36195366-36195379
3	REST	chr19:36195048-36195508	A549	lung:	n/a	chr19:36195294-36195314 chr19:36195297-36195310 chr19:36195318-36195331 chr19:36195294-36195314 chr19:36195294-36195303
4	RCOR1	chr19:36195006-36195462	IMR90	lung:	n/a	n/a
5	REST	chr19:36195026-36195749	ECC-1	luminal epithelium:	n/a	chr19:36195294-36195314 chr19:36195297-36195310 chr19:36195318-36195331 chr19:36195294-36195314 chr19:36195294-36195303
6	REST	chr19:36194991-36195568	GM12878	blood:	n/a	chr19:36195294-36195314 chr19:36195297-36195310 chr19:36195318-36195331 chr19:36195294-36195314 chr19:36195294-36195303
7	MAX	chr19:36195043-36195775	H1-hESC	embryonic stem cell:	n/a	chr19:36195404-36195411 chr19:36195403-36195412 chr19:36195402-36195412 chr19:36195402-36195411 chr19:36195401-36195416
8	REST	chr19:36195029-36195685	PANC-1	pancreas:	n/a	chr19:36195294-36195314 chr19:36195297-36195310 chr19:36195318-36195331 chr19:36195294-36195314 chr19:36195294-36195303
9	REST	chr19:36195043-36195744	PANC-1	pancreas:	n/a	chr19:36195294-36195314 chr19:36195297-36195310 chr19:36195318-36195331 chr19:36195294-36195314 chr19:36195294-36195303
10	CBX3	chr19:36195014-36195570	K562	blood:	n/a	n/a
11	REST	chr19:36195049-36195546	PANC-1	pancreas:	n/a	chr19:36195294-36195314 chr19:36195297-36195310 chr19:36195318-36195331 chr19:36195294-36195314 chr19:36195294-36195303
12	REST	chr19:36195032-36195747	ECC-1	luminal epithelium:	n/a	chr19:36195294-36195314 chr19:36195297-36195310 chr19:36195318-36195331 chr19:36195294-36195314 chr19:36195294-36195303
13	MAX	chr19:36195031-36195775	ECC-1	luminal epithelium:	n/a	chr19:36195404-36195411 chr19:36195403-36195412 chr19:36195402-36195412 chr19:36195402-36195411 chr19:36195401-36195416
14	RCOR1	chr19:36194994-36195516	K562	blood:	n/a	n/a
15	SP1	chr19:36195041-36195520	H1-hESC	embryonic stem cell:	n/a	chr19:36195253-36195274 chr19:36195367-36195388
16	REST	chr19:36195040-36195489	PANC-1	pancreas:	n/a	chr19:36195294-36195314 chr19:36195297-36195310 chr19:36195318-36195331 chr19:36195294-36195314 chr19:36195294-36195303
17	REST	chr19:36195019-36195612	A549	lung:	n/a	chr19:36195294-36195314 chr19:36195297-36195310 chr19:36195318-36195331 chr19:36195294-36195314 chr19:36195294-36195303
18	REST	chr19:36195043-36195487	U87	brain:	n/a	chr19:36195294-36195314 chr19:36195297-36195310 chr19:36195318-36195331 chr19:36195294-36195314 chr19:36195294-36195303
19	REST	chr19:36194979-36195796	HL-60	blood:	n/a	chr19:36195294-36195314 chr19:36195297-36195310 chr19:36195318-36195331 chr19:36195294-36195314 chr19:36195294-36195303
20	REST	chr19:36195027-36195520	H1-hESC	embryonic stem cell:	n/a	chr19:36195294-36195314 chr19:36195297-36195310 chr19:36195318-36195331 chr19:36195294-36195314 chr19:36195294-36195303
21	REST	chr19:36195039-36195549	H1-hESC	embryonic stem cell:	n/a	chr19:36195294-36195314 chr19:36195297-36195310 chr19:36195318-36195331 chr19:36195294-36195314 chr19:36195294-36195303
22	E2F6	chr19:36195032-36195509	K562	blood:	n/a	chr19:36195342-36195353 chr19:36195368-36195377 chr19:36195254-36195263
23	REST	chr19:36195047-36195538	K562	blood:	n/a	chr19:36195294-36195314 chr19:36195297-36195310 chr19:36195318-36195331 chr19:36195294-36195314 chr19:36195294-36195303
24	E2F6	chr19:36195013-36195956	H1-hESC	embryonic stem cell:	n/a	chr19:36195342-36195353 chr19:36195368-36195377 chr19:36195254-36195263
25	MXI1	chr19:36194968-36195558	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:36134071..36136376-chr19:36193211..36195269,2	MCF-7	breast:
2	chr19:36193261..36195251-chr19:36208816..36211234,2	K562	blood:
3	chr19:36193001..36195251-chr19:36206737..36211234,4	K562	blood:
4	chr19:36192706..36195143-chr19:36207502..36210108,2	MCF-7	breast:
5	chr19:36193425..36195138-chr19:36196726..36199415,4	K562	blood:

Variant related genes	Relation type
ZBTB32	TF binding region
ENSG00000105672	Chromatin interaction
ENSG00000272333	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1262746	1.00[AMR][1000 genomes]
rs1262750	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17705854	1.00[MEX][hapmap]
rs179569	1.00[AMR][1000 genomes]
rs231215	1.00[AMR][1000 genomes]
rs231219	1.00[AMR][1000 genomes]
rs231220	1.00[AMR][1000 genomes]
rs231224	1.00[AMR][1000 genomes]
rs231239	1.00[AMR][1000 genomes]
rs231240	1.00[AMR][1000 genomes]
rs231587	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs231595	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2428145	1.00[AMR][1000 genomes]
rs2520310	1.00[AMR][1000 genomes]
rs34494265	1.00[MEX][hapmap]
rs73931233	1.00[AMR][1000 genomes]
rs807490	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432045	chr19:35556260-36520760	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv543995	chr19:36139204-36203592	Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv911630	chr19:36149761-36290977	Enhancers Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	69 gene(s)	inside rSNPs	diseases
4	nsv458566	chr19:36156588-36265508	Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
5	nsv579422	chr19:36156588-36265508	Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases
6	nsv911631	chr19:36169285-36290977	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
7	nsv911632	chr19:36174176-36288297	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
8	nsv961286	chr19:36187862-36199437	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:36194000-36195600	Enhancers	Pancreas	Pancrea
2	chr19:36194000-36199200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr19:36194000-36206600	Weak transcription	Brain Angular Gyrus	brain
4	chr19:36194000-36206800	Weak transcription	Right Atrium	heart
5	chr19:36194000-36206800	Weak transcription	Osteobl	bone
6	chr19:36194400-36195200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
7	chr19:36194600-36195400	Weak transcription	Lung	lung
8	chr19:36194600-36196600	Weak transcription	GM12878-XiMat	blood
9	chr19:36194600-36197600	Weak transcription	Esophagus	oesophagus
10	chr19:36194600-36200400	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr19:36194600-36206200	Weak transcription	Right Ventricle	heart
12	chr19:36194800-36195200	Weak transcription	Gastric	stomach
13	chr19:36194800-36195200	Weak transcription	Spleen	Spleen
14	chr19:36194800-36197800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr19:36195000-36195200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:36195000-36195800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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