Variant report

Variant	rs741958
Chromosome Location	chr1:47692281-47692282
allele	A/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	ZMIZ1	chr1:47692175-47692374	K562	blood:	n/a	n/a
2	SUZ12	chr1:47689128-47692812	H1-hESC	embryonic stem cell:	n/a	n/a
3	EGR1	chr1:47692088-47692424	K562	blood:	n/a	chr1:47692219-47692232 chr1:47692300-47692315 chr1:47692220-47692229 chr1:47692219-47692229
4	EGR1	chr1:47692040-47692439	K562	blood:	n/a	chr1:47692219-47692232 chr1:47692300-47692315 chr1:47692220-47692229 chr1:47692219-47692229
5	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
6	RCOR1	chr1:47692133-47692343	K562	blood:	n/a	n/a
7	POLR2A	chr1:47691269-47692399	HUVEC	blood vessel:	n/a	n/a
8	SUZ12	chr1:47690359-47692871	NT2-D1	testis:	n/a	n/a
9	POLR2A	chr1:47691612-47692898	K562	blood:	n/a	n/a
10	POLR2A	chr1:47691727-47692516	HUVEC	blood vessel:	n/a	n/a
11	POLR2A	chr1:47691988-47692949	K562	blood:	n/a	n/a
12	POLR2A	chr1:47691819-47699200	PBDE	blood:	n/a	n/a
13	MAZ	chr1:47692208-47692452	K562	blood:	n/a	n/a
14	POLR2A	chr1:47691101-47692530	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr1:47691509-47698177	K562	blood:	n/a	n/a
16	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];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2250380	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[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];0.95[ASN][1000 genomes]
rs2798349	0.97[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2798355	0.83[ASN][1000 genomes]
rs2821086	0.92[AMR][1000 genomes]
rs2821097	0.84[AMR][1000 genomes]
rs765862	0.87[ASN][1000 genomes]

No data

Chromatin state (count:41 , 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	chr1:47690400-47692400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr1:47690400-47693600	Enhancers	Spleen	Spleen
6	chr1:47690800-47692400	Bivalent/Poised TSS	Psoas Muscle	Psoas
7	chr1:47691000-47692400	Active TSS	Right Atrium	heart
8	chr1:47691000-47694400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr1:47691400-47693000	Bivalent Enhancer	Fetal Heart	heart
10	chr1:47691600-47692400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:47691600-47692400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
12	chr1:47691600-47692400	Bivalent Enhancer	Fetal Stomach	stomach
13	chr1:47691600-47692400	Flanking Bivalent TSS/Enh	HepG2	liver
14	chr1:47691600-47692600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr1:47691600-47692600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr1:47691600-47692600	Enhancers	Lung	lung
17	chr1:47691600-47692800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:47691600-47694400	Bivalent Enhancer	Fetal Muscle Leg	muscle
19	chr1:47691600-47694800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
20	chr1:47691800-47692400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
21	chr1:47691800-47692400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:47691800-47692400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
23	chr1:47691800-47692600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
24	chr1:47691800-47692600	Enhancers	Right Ventricle	heart
25	chr1:47691800-47695200	Weak transcription	Pancreas	Pancrea
26	chr1:47691800-47695600	Flanking Active TSS	HUVEC	blood vessel
27	chr1:47692000-47692400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
28	chr1:47692000-47692400	Bivalent/Poised TSS	Brain Anterior Caudate	brain
29	chr1:47692000-47692600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
30	chr1:47692000-47692600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
31	chr1:47692000-47693800	Transcr. at gene 5' and 3'	K562	blood
32	chr1:47692200-47692400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
33	chr1:47692200-47692400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
34	chr1:47692200-47692400	Enhancers	Gastric	stomach
35	chr1:47692200-47692600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
36	chr1:47692200-47692600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr1:47692200-47692600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
38	chr1:47692200-47692800	Bivalent/Poised TSS	Brain Substantia Nigra	brain
39	chr1:47692200-47693800	Bivalent Enhancer	Left Ventricle	heart
40	chr1:47692200-47694200	Bivalent Enhancer	Adipose Nuclei	Adipose
41	chr1:47692200-47694400	Enhancers	Primary hematopoietic stem cells	blood

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