Variant report

Variant	rs747657
Chromosome Location	chr1:226550924-226550925
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	MXI1	chr1:226550212-226553341	SK-N-SH	brain:	n/a	chr1:226552439-226552448 chr1:226551595-226551604 chr1:226552441-226552450
2	EP300	chr1:226550818-226551075	SK-N-SH_RA	brain:	n/a	n/a
3	EP300	chr1:226550536-226554592	SK-N-SH	brain:	n/a	chr1:226553527-226553536 chr1:226553624-226553633
4	GATA2	chr1:226550406-226551759	SH-SY5Y	brain:	n/a	n/a
5	GATA3	chr1:226550516-226551151	SH-SY5Y	brain:	n/a	n/a
6	POLR2A	chr1:226550824-226551163	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:226550494..226555291-chr1:226557365..226562090,4	MCF-7	breast:

Variant related genes	Relation type
PARP1	TF binding region
ENSG00000143799	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1417765	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1805414	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2027439	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2048424	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2048426	0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2377313	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2666428	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2793380	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2793382	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2793657	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3219090	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3219112	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3219119	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3754376	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[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	nsv832770	chr1:226465130-226655512	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226538400-226566800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:226541400-226551600	Weak transcription	Stomach Mucosa	stomach
3	chr1:226543000-226556600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:226543000-226556800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr1:226543000-226558400	Strong transcription	Primary hematopoietic stem cells	blood
6	chr1:226543000-226578400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr1:226543000-226582800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:226543000-226590800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr1:226543000-226590800	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr1:226543000-226591400	Strong transcription	Primary T cells from cord blood	blood
11	chr1:226543200-226551800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:226543200-226588600	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr1:226543200-226588600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr1:226543400-226580400	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr1:226543400-226590200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr1:226543400-226591400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr1:226543600-226555200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr1:226543600-226590400	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr1:226543600-226591400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr1:226544200-226552200	Weak transcription	Right Atrium	heart
21	chr1:226544200-226556000	Strong transcription	Primary B cells from cord blood	blood
22	chr1:226544200-226590400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr1:226544400-226555600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr1:226544600-226580200	Strong transcription	Stomach Smooth Muscle	stomach
25	chr1:226544600-226580400	Strong transcription	Fetal Stomach	stomach
26	chr1:226544600-226591800	Strong transcription	Dnd41	blood
27	chr1:226544800-226551400	Weak transcription	Fetal Brain Male	brain
28	chr1:226544800-226551800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:226544800-226553800	Weak transcription	Psoas Muscle	Psoas
30	chr1:226544800-226558000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:226544800-226563400	Strong transcription	Spleen	Spleen
32	chr1:226544800-226590800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:226545000-226580400	Strong transcription	Sigmoid Colon	Sigmoid Colon
34	chr1:226545000-226590800	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr1:226545200-226552200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr1:226545200-226552400	Strong transcription	Fetal Muscle Trunk	muscle
37	chr1:226545200-226552600	Strong transcription	Brain Germinal Matrix	brain
38	chr1:226545200-226558600	Strong transcription	Brain Angular Gyrus	brain
39	chr1:226545200-226560000	Strong transcription	Colon Smooth Muscle	Colon
40	chr1:226545200-226569800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:226545200-226580200	Strong transcription	Ovary	ovary
42	chr1:226545200-226580400	Strong transcription	Fetal Intestine Large	intestine
43	chr1:226545200-226581000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr1:226545200-226581200	Strong transcription	Adipose Nuclei	Adipose
45	chr1:226545200-226582600	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr1:226545200-226582800	Strong transcription	Duodenum Mucosa	Duodenum
47	chr1:226545400-226551600	Strong transcription	Placenta	Placenta
48	chr1:226545400-226552400	Strong transcription	Fetal Lung	lung
49	chr1:226545400-226553800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:226545400-226560600	Strong transcription	Brain Anterior Caudate	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links