Variant report

Variant	rs878775
Chromosome Location	chr1:151687594-151687595
allele	C/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	REST	chr1:151687436-151687960	PFSK-1	brain:	n/a	chr1:151687864-151687884 chr1:151687901-151687911
2	TEAD4	chr1:151687460-151687982	A549	lung:	n/a	n/a
3	REST	chr1:151687306-151688112	ECC-1	luminal epithelium:	n/a	chr1:151687864-151687884 chr1:151687901-151687911
4	REST	chr1:151687551-151687799	GM12878	blood:	n/a	n/a
5	REST	chr1:151687568-151687796	HepG2	liver:	n/a	n/a
6	REST	chr1:151687478-151687963	HL-60	blood:	n/a	chr1:151687864-151687884 chr1:151687901-151687911
7	REST	chr1:151687497-151688071	H1-hESC	embryonic stem cell:	n/a	chr1:151687864-151687884 chr1:151687901-151687911
8	REST	chr1:151687517-151687865	U87	brain:	n/a	n/a
9	ZNF263	chr1:151686604-151687882	K562	blood:	n/a	chr1:151687484-151687505 chr1:151687507-151687528 chr1:151687552-151687573 chr1:151686655-151686664
10	REST	chr1:151687323-151688075	MCF-7	breast:	n/a	chr1:151687864-151687884 chr1:151687901-151687911
11	MAX	chr1:151687551-151687793	K562	blood:	n/a	n/a
12	REST	chr1:151687268-151688125	ECC-1	luminal epithelium:	n/a	chr1:151687864-151687884 chr1:151687901-151687911
13	ZNF143	chr1:151687568-151687822	H1-hESC	embryonic stem cell:	n/a	n/a
14	REST	chr1:151687530-151687821	Hela-S3	cervix:	n/a	n/a
15	EGR1	chr1:151687548-151687894	K562	blood:	n/a	chr1:151687635-151687644
16	ZNF263	chr1:151686317-151687870	HEK293-T-REx	kidney:	n/a	chr1:151687484-151687505 chr1:151687507-151687528 chr1:151687552-151687573 chr1:151686655-151686664
17	NR2F2	chr1:151687551-151688368	K562	blood:	n/a	n/a
18	REST	chr1:151687428-151687894	A549	lung:	n/a	chr1:151687864-151687884
19	REST	chr1:151687523-151687852	SK-N-SH	brain:	n/a	n/a
20	REST	chr1:151687495-151687938	HepG2	liver:	n/a	chr1:151687864-151687884 chr1:151687901-151687911
21	REST	chr1:151687340-151688001	MCF-7	breast:	n/a	chr1:151687864-151687884 chr1:151687901-151687911
22	GABPA	chr1:151687569-151688141	K562	blood:	n/a	n/a
23	REST	chr1:151687442-151688206	K562	blood:	n/a	chr1:151687864-151687884 chr1:151687901-151687911
24	SIN3A	chr1:151687542-151687863	H1-hESC	embryonic stem cell:	n/a	n/a
25	REST	chr1:151687593-151687831	HepG2	liver:	n/a	n/a
26	ZBTB7A	chr1:151687575-151687803	ECC-1	luminal epithelium:	n/a	n/a
27	REST	chr1:151687519-151687865	U87	brain:	n/a	n/a
28	REST	chr1:151687464-151688003	PFSK-1	brain:	n/a	chr1:151687864-151687884 chr1:151687901-151687911
29	POLR2A	chr1:151687289-151687679	H1-neurons	neurons:	n/a	n/a
30	SIN3AK20	chr1:151687527-151687820	H1-hESC	embryonic stem cell:	n/a	n/a
31	REST	chr1:151687568-151687815	Hela-S3	cervix:	n/a	n/a
32	REST	chr1:151687494-151687954	PANC-1	pancreas:	n/a	chr1:151687864-151687884 chr1:151687901-151687911
33	REST	chr1:151687492-151687928	H1-hESC	embryonic stem cell:	n/a	chr1:151687864-151687884 chr1:151687901-151687911
34	REST	chr1:151687526-151687946	HL-60	blood:	n/a	chr1:151687864-151687884 chr1:151687901-151687911
35	REST	chr1:151687525-151687796	PANC-1	pancreas:	n/a	n/a
36	REST	chr1:151687511-151688119	K562	blood:	n/a	chr1:151687864-151687884 chr1:151687901-151687911
37	ELF1	chr1:151687455-151687790	K562	blood:	n/a	chr1:151687634-151687643 chr1:151687633-151687644 chr1:151687631-151687644
38	REST	chr1:151687545-151687823	SK-N-SH	brain:	n/a	n/a
39	REST	chr1:151687540-151687896	GM12878	blood:	n/a	chr1:151687864-151687884

No.	Distal block	Cell Line	Cell type
1	chr1:151685651..151688876-chr1:151692359..151694505,3	MCF-7	breast:
2	chr1:151686149..151687760-chr1:151781194..151783599,2	K562	blood:
3	chr1:151682885..151684895-chr1:151686526..151689556,3	K562	blood:

Variant related genes	Relation type
CELF3	TF binding region
ENSG00000240510	Chromatin interaction
ENSG00000178796	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10218531	0.81[CEU][hapmap]
rs11204879	0.80[CEU][hapmap]
rs11204880	0.81[CEU][hapmap]
rs11808761	0.88[CEU][hapmap];0.81[CHB][hapmap]
rs1196350	0.88[CEU][hapmap];0.81[CHB][hapmap]
rs1196462	0.88[CEU][hapmap];0.82[CHB][hapmap]
rs1196466	0.85[CEU][hapmap];0.82[CHB][hapmap]
rs12122920	0.84[CEU][hapmap];0.81[CHB][hapmap]
rs12139264	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12143606	0.83[CEU][hapmap]
rs12758387	0.84[CEU][hapmap]
rs2096402	0.88[CEU][hapmap]
rs41263702	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4845339	0.84[CEU][hapmap]
rs6587615	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6587616	0.82[ASN][1000 genomes]
rs6587617	0.92[CEU][hapmap];1.00[CHB][hapmap];0.81[EUR][1000 genomes]
rs6683687	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6696250	0.96[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs939592	0.96[CEU][hapmap];0.87[CHB][hapmap];0.88[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151670000-151689800	Weak transcription	Pancreas	Pancrea
2	chr1:151683400-151687800	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
3	chr1:151683400-151688600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:151684400-151689600	Active TSS	Brain Anterior Caudate	brain
5	chr1:151685400-151689800	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr1:151685400-151690000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
7	chr1:151685600-151690400	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr1:151685800-151689400	Weak transcription	A549	lung
9	chr1:151686400-151688000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:151686400-151689400	Active TSS	Brain Hippocampus Middle	brain
11	chr1:151686400-151690000	Active TSS	Brain Cingulate Gyrus	brain
12	chr1:151686600-151687800	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr1:151686800-151687600	Flanking Active TSS	Fetal Intestine Large	intestine
14	chr1:151686800-151690000	Active TSS	Brain Angular Gyrus	brain
15	chr1:151687000-151687600	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
16	chr1:151687000-151688800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:151687200-151687600	Bivalent/Poised TSS	Fetal Stomach	stomach
18	chr1:151687200-151687800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr1:151687200-151688000	Flanking Active TSS	Brain Germinal Matrix	brain
20	chr1:151687200-151688200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:151687200-151688400	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
22	chr1:151687400-151687600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr1:151687400-151687600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
24	chr1:151687400-151688600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
25	chr1:151687400-151688800	Flanking Active TSS	Fetal Brain Male	brain
26	chr1:151687400-151689000	Enhancers	K562	blood
27	chr1:151687400-151689200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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