Variant report

Variant	rs11206885
Chromosome Location	chr1:57111692-57111693
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	TBP	chr1:57110901-57111920	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:57110683-57111977	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr1:57110265-57111822	A549	lung:	n/a	n/a
4	KAP1	chr1:57111524-57112038	U2OS	brain:	n/a	n/a
5	RCOR1	chr1:57110073-57112051	Hela-S3	cervix:	n/a	n/a
6	TEAD4	chr1:57110919-57112036	ECC-1	luminal epithelium:	n/a	n/a
7	MAZ	chr1:57109756-57111909	IMR90	lung:	n/a	n/a
8	E2F1	chr1:57110698-57111742	Hela-S3	cervix:	n/a	chr1:57111003-57111013 chr1:57111006-57111016 chr1:57111000-57111010
9	ZNF263	chr1:57110992-57112084	HEK293-T-REx	kidney:	n/a	n/a
10	TEAD4	chr1:57111660-57111979	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr1:57111269-57111880	Hela-S3	cervix:	n/a	n/a
12	TBP	chr1:57111495-57112171	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr1:57110447-57111768	HepG2	liver:	n/a	n/a
14	TEAD4	chr1:57111577-57112168	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr1:57110266-57111698	HEK293	kidney:	n/a	n/a
16	POLR2A	chr1:57110442-57111954	H1-hESC	embryonic stem cell:	n/a	n/a
17	SMARCB1	chr1:57109860-57111913	Hela-S3	cervix:	n/a	n/a
18	MAX	chr1:57110405-57111800	HepG2	liver:	n/a	n/a
19	MAX	chr1:57110365-57111746	HepG2	liver:	n/a	n/a
20	SMC3	chr1:57111370-57112061	Hela-S3	cervix:	n/a	n/a
21	TAF1	chr1:57110896-57111956	H1-hESC	embryonic stem cell:	n/a	n/a
22	GTF2F1	chr1:57111414-57112145	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr1:57111344-57111880	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr1:57110339-57111757	H1-neurons	neurons:	n/a	n/a
25	POLR2A	chr1:57110267-57111969	Hela-S3	cervix:	n/a	n/a
26	YY1	chr1:57111544-57111936	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAX	chr1:57110595-57111802	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr1:57110068-57112007	Hela-S3	cervix:	n/a	n/a
29	MXI1	chr1:57111051-57112023	Hela-S3	cervix:	n/a	n/a
30	SIN3A	chr1:57110934-57112065	H1-hESC	embryonic stem cell:	n/a	chr1:57111263-57111276
31	POLR2A	chr1:57110276-57111893	HepG2	liver:	n/a	n/a
32	POLR2A	chr1:57109759-57112147	Hela-S3	cervix:	n/a	n/a
33	HA-E2F1	chr1:57110548-57111702	Hela-S3	cervix:	n/a	chr1:57111003-57111013 chr1:57111006-57111016 chr1:57111000-57111010
34	YY1	chr1:57111481-57112032	H1-hESC	embryonic stem cell:	n/a	n/a
35	REST	chr1:57110268-57112005	H1-neurons	neurons:	n/a	chr1:57110757-57110767 chr1:57110821-57110831 chr1:57110714-57110732 chr1:57110975-57110988 chr1:57110779-57110797 chr1:57111028-57111041 chr1:57111263-57111276
36	MAZ	chr1:57110319-57111885	Hela-S3	cervix:	n/a	n/a
37	MAX	chr1:57110040-57111965	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:57110866..57111695-chr5:180670087..180670753,2	Hela-S3	cervix:
2	chr1:57110974..57111787-chr5:43018020..43018793,2	Hela-S3	cervix:

Variant related genes	Relation type
PPAP2B	TF binding region
ENSG00000251131	Chromatin interaction
ENSG00000264549	Chromatin interaction
ENSG00000204628	Chromatin interaction

Extended variants
information (count: 69 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10749708	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10789036	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10789038	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10789040	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10789041	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs10889006	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10889008	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10889009	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11206884	0.90[ASN][1000 genomes]
rs11206886	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11206888	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11206889	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11206890	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11206895	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1124900	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11589368	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs11804779	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12021768	0.90[ASN][1000 genomes]
rs12021851	0.90[ASN][1000 genomes]
rs12023668	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12032999	0.88[ASN][1000 genomes]
rs12048572	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12072057	0.95[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs12073311	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12078260	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12092267	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12097148	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12738355	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13374924	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1418442	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs1986660	0.90[ASN][1000 genomes]
rs2245475	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2404718	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2404992	0.90[ASN][1000 genomes]
rs2404993	0.90[ASN][1000 genomes]
rs2404994	0.84[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs2746345	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2746348	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2746349	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2746353	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2796517	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2796519	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2796523	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2796527	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4548471	0.90[ASN][1000 genomes]
rs4551620	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4562656	0.86[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4584419	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59223968	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61772962	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61774287	0.90[ASN][1000 genomes]
rs6588641	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6588643	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6683935	0.95[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72666470	0.86[ASN][1000 genomes]
rs7419053	0.84[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7515414	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7519509	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7533440	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7545066	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7546264	0.83[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7547486	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs932447	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs9887834	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9887940	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv3371942	chr1:57109389-57112237	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv3402388	chr1:57109989-57112537	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
4	esv3445991	chr1:57110114-57112162	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57109800-57111800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
2	chr1:57109800-57112000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr1:57109800-57112000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:57109800-57112000	Active TSS	Psoas Muscle	Psoas
5	chr1:57109800-57112200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr1:57109800-57112200	Active TSS	Brain Angular Gyrus	brain
7	chr1:57109800-57112400	Active TSS	Rectal Smooth Muscle	rectum
8	chr1:57109800-57113200	Active TSS	Right Atrium	heart
9	chr1:57109800-57114600	Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr1:57110000-57111800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
11	chr1:57110000-57112000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr1:57110000-57112000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr1:57110000-57112000	Active TSS	Fetal Brain Female	brain
14	chr1:57110000-57112000	Bivalent/Poised TSS	Osteobl	bone
15	chr1:57110000-57112200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:57110000-57112200	Active TSS	Brain Cingulate Gyrus	brain
17	chr1:57110000-57112200	Active TSS	Hela-S3	cervix
18	chr1:57110000-57112400	Active TSS	Brain Anterior Caudate	brain
19	chr1:57110000-57112400	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr1:57110000-57112400	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr1:57110000-57112600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:57110000-57113200	Active TSS	Stomach Smooth Muscle	stomach
23	chr1:57110000-57113400	Active TSS	Right Ventricle	heart
24	chr1:57110200-57111800	Active TSS	Pancreas	Pancrea
25	chr1:57110200-57112000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:57110200-57112000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr1:57110200-57112000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:57110200-57112000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr1:57110200-57112200	Active TSS	Aorta	Aorta
30	chr1:57110200-57112600	Active TSS	Left Ventricle	heart
31	chr1:57110200-57112600	Active TSS	A549	lung
32	chr1:57110200-57113000	Active TSS	Fetal Heart	heart
33	chr1:57110400-57111800	Active TSS	Spleen	Spleen
34	chr1:57110400-57112000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:57110400-57112000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr1:57110400-57112000	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr1:57110400-57112000	Active TSS	Esophagus	oesophagus
38	chr1:57110400-57112600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr1:57110600-57111800	Active TSS	Brain Hippocampus Middle	brain
40	chr1:57110600-57111800	Bivalent/Poised TSS	Fetal Thymus	thymus
41	chr1:57110600-57111800	Active TSS	NHLF	lung
42	chr1:57110600-57112000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:57110600-57112400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
44	chr1:57111000-57111800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:57111000-57112000	Bivalent/Poised TSS	Colonic Mucosa	Colon
46	chr1:57111200-57111800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
47	chr1:57111200-57111800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:57111200-57112000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr1:57111400-57111800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
50	chr1:57111400-57111800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links