Variant report

Variant	rs2250380
Chromosome Location	chr1:47692786-47692787
allele	G/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	SUZ12	chr1:47689128-47692812	H1-hESC	embryonic stem cell:	n/a	n/a
2	GATA1	chr1:47691744-47699667	K562	blood:	n/a	chr1:47698033-47698046 chr1:47698035-47698045 chr1:47698037-47698044 chr1:47698026-47698043 chr1:47698035-47698044 chr1:47698037-47698047
3	SUZ12	chr1:47690359-47692871	NT2-D1	testis:	n/a	n/a
4	POLR2A	chr1:47691612-47692898	K562	blood:	n/a	n/a
5	POLR2A	chr1:47691988-47692949	K562	blood:	n/a	n/a
6	POLR2A	chr1:47691819-47699200	PBDE	blood:	n/a	n/a
7	POLR2A	chr1:47691509-47698177	K562	blood:	n/a	n/a
8	POLR2A	chr1:47689981-47694069	K562	blood:	n/a	n/a

Variant related genes	Relation type
TAL1	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17418545	0.81[AMR][1000 genomes]
rs2181222	0.84[ASN][1000 genomes]
rs2249665	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2250495	0.84[ASN][1000 genomes]
rs2273834	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2742101	0.84[AMR][1000 genomes]
rs2758742	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2798349	0.97[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2798355	0.83[ASN][1000 genomes]
rs2821086	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2821097	0.84[AMR][1000 genomes]
rs741958	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765862	0.87[ASN][1000 genomes]

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47689800-47696600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:47690000-47697600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr1:47690200-47696800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr1:47690400-47693600	Enhancers	Spleen	Spleen
5	chr1:47691000-47694400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr1:47691400-47693000	Bivalent Enhancer	Fetal Heart	heart
7	chr1:47691600-47692800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:47691600-47694400	Bivalent Enhancer	Fetal Muscle Leg	muscle
9	chr1:47691600-47694800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:47691800-47695200	Weak transcription	Pancreas	Pancrea
11	chr1:47691800-47695600	Flanking Active TSS	HUVEC	blood vessel
12	chr1:47692000-47693800	Transcr. at gene 5' and 3'	K562	blood
13	chr1:47692200-47692800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
14	chr1:47692200-47693800	Bivalent Enhancer	Left Ventricle	heart
15	chr1:47692200-47694200	Bivalent Enhancer	Adipose Nuclei	Adipose
16	chr1:47692200-47694400	Enhancers	Primary hematopoietic stem cells	blood
17	chr1:47692400-47693200	Bivalent Enhancer	Placenta	Placenta
18	chr1:47692400-47693400	Enhancers	Right Atrium	heart
19	chr1:47692400-47696600	Weak transcription	Gastric	stomach
20	chr1:47692600-47692800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
21	chr1:47692600-47692800	Bivalent Enhancer	Right Ventricle	heart
22	chr1:47692600-47693000	Bivalent Enhancer	Fetal Stomach	stomach
23	chr1:47692600-47693800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
24	chr1:47692600-47694200	Weak transcription	Lung	lung

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