Variant report

Variant	rs11587699
Chromosome Location	chr1:94764488-94764489
allele	A/T
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	STAT3	chr1:94764426-94764731	MCF10A-Er-Src	breast:	n/a	n/a
2	FOXA1	chr1:94764324-94764826	HepG2	liver:	n/a	n/a
3	CEBPB	chr1:94764474-94764749	IMR90	lung:	n/a	n/a
4	EP300	chr1:94764415-94764775	HepG2	liver:	n/a	chr1:94764637-94764651
5	STAT3	chr1:94764456-94764771	MCF10A-Er-Src	breast:	n/a	n/a
6	ARID3A	chr1:94764465-94764698	HepG2	liver:	n/a	n/a
7	FOXA1	chr1:94764403-94764669	HepG2	liver:	n/a	n/a
8	CEBPB	chr1:94764390-94764808	Hela-S3	cervix:	n/a	n/a
9	CEBPB	chr1:94764408-94764731	HepG2	liver:	n/a	n/a
10	MYC	chr1:94764460-94764758	MCF10A-Er-Src	breast:	n/a	n/a
11	FOXA2	chr1:94764428-94764736	HepG2	liver:	n/a	n/a
12	POLR2A	chr1:94764268-94764737	HUVEC	blood vessel:	n/a	n/a
13	CEBPB	chr1:94764437-94764683	HepG2	liver:	n/a	n/a
14	FOS	chr1:94764470-94764772	MCF10A-Er-Src	breast:	n/a	n/a
15	EP300	chr1:94764448-94764780	Hela-S3	cervix:	n/a	chr1:94764637-94764651
16	GATA2	chr1:94764385-94764724	HUVEC	blood vessel:	n/a	n/a
17	CEBPB	chr1:94764401-94764777	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94764343..94765905-chr1:94774402..94776813,2	K562	blood:

Variant related genes	Relation type
GAPDHP29	TF binding region

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11165098	0.89[ASN][1000 genomes]
rs11165104	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11165105	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11165111	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11165120	0.88[YRI][hapmap]
rs12069420	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12084043	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12090310	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12090491	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12096115	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1330855	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1687949	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17111360	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1756254	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2150269	0.87[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs2774923	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28613199	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35493159	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs3789688	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.88[ASN][1000 genomes]
rs3814019	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs3827751	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs58466782	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59960594	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs722296	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7525008	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7528831	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7530160	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7535547	0.88[YRI][hapmap]
rs7538484	0.80[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7540684	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7548951	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428510	chr1:94709575-94866655	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94752600-94765200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:94760600-94765600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr1:94760600-94770000	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr1:94761200-94767000	Enhancers	NHLF	lung
5	chr1:94761200-94767400	Enhancers	Muscle Satellite Cultured Cells	--
6	chr1:94761200-94768200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:94761600-94764600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:94761600-94765200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:94762000-94765400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:94762000-94769400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr1:94762200-94767200	Enhancers	HepG2	liver
12	chr1:94762400-94765200	Weak transcription	NH-A	brain
13	chr1:94762600-94764800	Enhancers	Adipose Nuclei	Adipose
14	chr1:94762600-94765600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr1:94762800-94765200	Weak transcription	Pancreas	Pancrea
16	chr1:94763200-94764800	Enhancers	Primary hematopoietic stem cells	blood
17	chr1:94763200-94765800	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr1:94763400-94764800	Weak transcription	Brain Angular Gyrus	brain
19	chr1:94763400-94765200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr1:94763400-94767200	Weak transcription	Right Ventricle	heart
21	chr1:94763400-94775800	Weak transcription	Psoas Muscle	Psoas
22	chr1:94763600-94765200	Weak transcription	Left Ventricle	heart
23	chr1:94763600-94765200	Weak transcription	Lung	lung
24	chr1:94763600-94765200	Weak transcription	Right Atrium	heart
25	chr1:94763600-94765200	Weak transcription	Spleen	Spleen
26	chr1:94764000-94766000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:94764200-94766000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:94764200-94766000	Enhancers	Fetal Lung	lung
29	chr1:94764200-94767200	Enhancers	Liver	Liver
30	chr1:94764200-94767200	Enhancers	Osteobl	bone
31	chr1:94764400-94764600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:94764400-94764800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:94764400-94764800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:94764400-94764800	Enhancers	Fetal Heart	heart
35	chr1:94764400-94764800	Flanking Active TSS	HUVEC	blood vessel
36	chr1:94764400-94765600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:94764400-94765600	Enhancers	Ovary	ovary
38	chr1:94764400-94765600	Enhancers	NHEK	skin
39	chr1:94764400-94765800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr1:94764400-94765800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
41	chr1:94764400-94765800	Enhancers	Fetal Stomach	stomach
42	chr1:94764400-94765800	Enhancers	Gastric	stomach
43	chr1:94764400-94766000	Enhancers	Fetal Muscle Leg	muscle
44	chr1:94764400-94766000	Enhancers	Placenta	Placenta
45	chr1:94764400-94766000	Enhancers	Stomach Mucosa	stomach
46	chr1:94764400-94766200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr1:94764400-94766200	Enhancers	Fetal Intestine Large	intestine
48	chr1:94764400-94766200	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr1:94764400-94766200	Enhancers	HSMM	muscle
50	chr1:94764400-94766600	Enhancers	Skeletal Muscle Male	skeletal muscle

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