Variant report

Variant	rs17197611
Chromosome Location	chr2:114644053-114644054
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:125)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:125 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POU2F2	chr2:114643843-114644947	GM12891	blood:	n/a	n/a
2	RFX5	chr2:114644038-114644709	GM12878	blood:	n/a	n/a
3	EP300	chr2:114643995-114644417	GM12878	blood:	n/a	n/a
4	POLR2A	chr2:114643886-114644624	GM12891	blood:	n/a	n/a
5	EGR1	chr2:114644037-114644330	GM12878	blood:	n/a	n/a
6	IKZF1	chr2:114643855-114644893	GM12878	blood:	n/a	n/a
7	PML	chr2:114643974-114644690	GM12878	blood:	n/a	n/a
8	TBL1XR1	chr2:114643899-114645673	GM12878	blood:	n/a	n/a
9	POLR2A	chr2:114643969-114644528	GM12878	blood:	n/a	n/a
10	PAX5	chr2:114644046-114644373	GM12878	blood:	n/a	n/a
11	TAF1	chr2:114644037-114644358	GM12878	blood:	n/a	n/a
12	MAX	chr2:114644011-114645220	GM12878	blood:	n/a	chr2:114645192-114645201
13	POLR2A	chr2:114643857-114649205	GM12891	blood:	n/a	n/a
14	EGR1	chr2:114644009-114644349	GM12878	blood:	n/a	n/a
15	FOXM1	chr2:114643843-114645101	GM12878	blood:	n/a	n/a
16	TCF12	chr2:114643924-114644402	GM12878	blood:	n/a	n/a
17	MAFK	chr2:114643940-114644654	IMR90	lung:	n/a	n/a
18	STAT1	chr2:114643969-114644490	GM12878	blood:	n/a	n/a
19	POLR2A	chr2:114643797-114645592	GM12892	blood:	n/a	n/a
20	MEF2A	chr2:114643891-114644764	GM12878	blood:	n/a	n/a
21	POLR2A	chr2:114643884-114645463	GM12891	blood:	n/a	n/a
22	IRF4	chr2:114643910-114644664	GM12878	blood:	n/a	n/a
23	POLR2A	chr2:114643825-114649166	GM12892	blood:	n/a	n/a
24	RELA	chr2:114643899-114644866	GM18951	blood:	n/a	n/a
25	POLR2A	chr2:114643910-114650805	GM12878	blood:	n/a	n/a
26	FOXA2	chr2:114644008-114644455	HepG2	liver:	n/a	n/a
27	EP300	chr2:114643890-114645790	GM12878	blood:	n/a	n/a
28	CHD2	chr2:114643902-114645210	GM12878	blood:	n/a	n/a
29	SP1	chr2:114643835-114644637	GM12878	blood:	n/a	n/a
30	POLR2A	chr2:114643910-114644671	U87	brain:	n/a	n/a
31	EGR1	chr2:114644048-114644346	K562	blood:	n/a	n/a
32	TAF1	chr2:114643894-114644570	GM12878	blood:	n/a	n/a
33	PAX5	chr2:114643789-114644804	GM12878	blood:	n/a	n/a
34	POLR2A	chr2:114643844-114645758	GM12892	blood:	n/a	n/a
35	POU2F2	chr2:114643893-114644381	GM12878	blood:	n/a	n/a
36	SMC3	chr2:114643888-114644546	GM12878	blood:	n/a	n/a
37	MEF2C	chr2:114643883-114644529	GM12878	blood:	n/a	n/a
38	YY1	chr2:114643919-114644963	GM12878	blood:	n/a	n/a
39	PML	chr2:114643727-114645664	GM12878	blood:	n/a	chr2:114645560-114645568
40	ZNF143	chr2:114643945-114644554	GM12878	blood:	n/a	n/a
41	EP300	chr2:114643873-114644726	GM12878	blood:	n/a	n/a
42	FOXM1	chr2:114643755-114644897	GM12878	blood:	n/a	n/a
43	MTA3	chr2:114643802-114645334	GM12878	blood:	n/a	n/a
44	CEBPB	chr2:114643904-114644514	IMR90	lung:	n/a	chr2:114644023-114644036
45	ELF1	chr2:114644049-114644487	K562	blood:	n/a	chr2:114644289-114644302
46	RUNX3	chr2:114643797-114645529	GM12878	blood:	n/a	n/a
47	FOS	chr2:114644026-114644288	MCF10A-Er-Src	breast:	n/a	chr2:114644149-114644160
48	WRNIP1	chr2:114643892-114644710	GM12878	blood:	n/a	n/a
49	TCF12	chr2:114644024-114644341	GM12878	blood:	n/a	n/a
50	TBP	chr2:114643949-114645241	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:114641822..114644086-chr2:114712983..114714789,2	K562	blood:
2	chr2:114512907..114516219-chr2:114641764..114644786,3	K562	blood:
3	chr2:114510034..114517579-chr2:114643441..114655407,23	MCF-7	breast:
4	chr2:114511479..114519908-chr2:114641728..114650266,13	MCF-7	breast:
5	chr2:114633812..114636075-chr2:114642561..114644204,2	MCF-7	breast:
6	chr2:114637447..114639972-chr2:114643641..114645350,2	MCF-7	breast:

No data

Variant related genes	Relation type
ACTR3	TF binding region
ENSG00000115084	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11123214	0.86[MKK][hapmap]
rs11684387	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17269808	0.95[AFR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62169938	0.84[ASN][1000 genomes]
rs72835466	0.95[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72835476	0.95[AFR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7605071	1.00[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs17197611	RPL23AP7	cis	Whole Blood	GTEx
rs17197611	DDX11L2	cis	Whole Blood	GTEx
rs17197611	RPL23AP7	cis	Heart Left Ventricle	GTEx
rs17197611	LOC654433	cis	parietal	SCAN
rs17197611	ACTR3	Cis_1M	lymphoblastoid	RTeQTL
rs17197611	PAX8	cis	parietal	SCAN
rs17197611	DDX11L2	cis	Esophagus Mucosa	GTEx

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114633800-114646800	Weak transcription	Aorta	Aorta
2	chr2:114634200-114644800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:114634400-114644200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:114634600-114645800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:114634600-114646000	Weak transcription	Brain Anterior Caudate	brain
6	chr2:114634600-114646200	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr2:114634800-114644200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr2:114635000-114644200	Weak transcription	Esophagus	oesophagus
9	chr2:114635400-114646000	Weak transcription	Fetal Muscle Leg	muscle
10	chr2:114635600-114644400	Weak transcription	Fetal Brain Female	brain
11	chr2:114635600-114645800	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:114636800-114644200	Weak transcription	Left Ventricle	heart
13	chr2:114636800-114644600	Weak transcription	Fetal Intestine Small	intestine
14	chr2:114636800-114645400	Weak transcription	Fetal Intestine Large	intestine
15	chr2:114637200-114644200	Weak transcription	Fetal Heart	heart
16	chr2:114637800-114645800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr2:114638000-114645800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr2:114639000-114646600	Weak transcription	Ovary	ovary
19	chr2:114639800-114646800	Weak transcription	Gastric	stomach
20	chr2:114640000-114644800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:114640200-114644200	Weak transcription	Primary hematopoietic stem cells	blood
22	chr2:114640800-114644200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:114642200-114646000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr2:114642200-114646600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr2:114642400-114645400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr2:114642400-114646000	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr2:114642600-114646000	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr2:114642800-114644200	Enhancers	Duodenum Mucosa	Duodenum
29	chr2:114642800-114644600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr2:114642800-114644800	Enhancers	Primary T cells from cord blood	blood
31	chr2:114642800-114646200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr2:114643000-114644200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr2:114643000-114646400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr2:114643200-114645800	Enhancers	NHLF	lung
35	chr2:114643200-114646400	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr2:114643200-114646400	Enhancers	Primary B cells from peripheral blood	blood
37	chr2:114643200-114646600	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr2:114643200-114646600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:114643400-114644200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:114643400-114646600	Enhancers	Primary T cells fromperipheralblood	blood
41	chr2:114643600-114645600	Enhancers	Fetal Thymus	thymus
42	chr2:114643600-114646000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
43	chr2:114643800-114644200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:114643800-114644200	Enhancers	Muscle Satellite Cultured Cells	--
45	chr2:114643800-114644200	Enhancers	K562	blood
46	chr2:114643800-114644600	Enhancers	HSMM	muscle
47	chr2:114643800-114645000	Flanking Active TSS	Osteobl	bone
48	chr2:114643800-114645800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:114643800-114645800	Enhancers	HMEC	breast
50	chr2:114643800-114645800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links