Variant report

Variant	rs1056608
Chromosome Location	chr1:225609884-225609885
allele	C/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	POLR2A	chr1:225609655-225611575	K562	blood:	n/a	n/a
2	SPI1	chr1:225609574-225610282	HL-60	blood:	n/a	chr1:225609735-225609748
3	EP300	chr1:225609718-225612078	SK-N-SH	brain:	n/a	chr1:225609737-225609751
4	MXI1	chr1:225609788-225616921	SK-N-SH	brain:	n/a	n/a
5	SPI1	chr1:225609705-225610190	HL-60	blood:	n/a	chr1:225609735-225609748

No.	Distal block	Cell Line	Cell type
1	chr1:225609832..225612207-chr1:225614120..225615659,2	MCF-7	breast:
2	chr1:225607872..225610815-chr1:225614150..225617627,4	MCF-7	breast:
3	chr1:225586897..225589752-chr1:225607136..225609975,2	MCF-7	breast:

Variant related genes	Relation type
LBR	TF binding region
ENSG00000143815	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10495241	0.84[YRI][hapmap]
rs10799306	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11799479	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1538930	0.84[YRI][hapmap]
rs2230419	0.88[YRI][hapmap];0.83[AFR][1000 genomes]
rs3766928	0.83[YRI][hapmap]
rs3766929	0.92[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4999299	0.81[AFR][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	nsv832714	chr1:225592333-225805396	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:225582200-225610400	Strong transcription	Fetal Thymus	thymus
2	chr1:225584200-225610600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:225584800-225610400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:225585000-225610400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:225585800-225610000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr1:225585800-225610000	Strong transcription	K562	blood
7	chr1:225585800-225610400	Strong transcription	Primary T cells fromperipheralblood	blood
8	chr1:225587800-225610000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:225588200-225610200	Strong transcription	Osteobl	bone
10	chr1:225590200-225610000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:225593000-225610800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:225595400-225610400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:225596800-225610600	Strong transcription	HSMM	muscle
14	chr1:225597600-225611200	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:225597800-225610000	Strong transcription	GM12878-XiMat	blood
16	chr1:225597800-225611200	Strong transcription	HMEC	breast
17	chr1:225597800-225611400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr1:225599200-225610600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr1:225599800-225611200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr1:225599800-225614000	Weak transcription	Right Ventricle	heart
21	chr1:225601800-225610600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr1:225602000-225610000	Weak transcription	Stomach Mucosa	stomach
23	chr1:225602600-225610000	Strong transcription	Primary B cells from peripheral blood	blood
24	chr1:225602800-225611200	Weak transcription	Pancreas	Pancrea
25	chr1:225602800-225612400	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr1:225602800-225613600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr1:225603400-225610600	Weak transcription	Brain Substantia Nigra	brain
28	chr1:225603400-225612400	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr1:225604200-225611000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:225604400-225611200	Weak transcription	Fetal Heart	heart
31	chr1:225604600-225610000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:225605400-225610200	Strong transcription	NHLF	lung
33	chr1:225606800-225610000	Strong transcription	Liver	Liver
34	chr1:225607000-225610000	Weak transcription	Colonic Mucosa	Colon
35	chr1:225607000-225610400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:225607000-225610600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:225607000-225611000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr1:225607000-225611000	Weak transcription	Brain Hippocampus Middle	brain
39	chr1:225607000-225611000	Weak transcription	Left Ventricle	heart
40	chr1:225607000-225611200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:225607000-225611200	Weak transcription	Aorta	Aorta
42	chr1:225607000-225611200	Weak transcription	Psoas Muscle	Psoas
43	chr1:225607000-225611200	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr1:225607000-225611200	Weak transcription	Spleen	Spleen
45	chr1:225607000-225612200	Weak transcription	Brain Anterior Caudate	brain
46	chr1:225607000-225612400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr1:225607000-225612400	Weak transcription	Brain Angular Gyrus	brain
48	chr1:225607000-225612400	Weak transcription	Esophagus	oesophagus
49	chr1:225607000-225613800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr1:225607200-225610000	Strong transcription	Fetal Intestine Small	intestine

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