Variant report

Variant	rs61782665
Chromosome Location	chr1:47692035-47692036
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	SUZ12	chr1:47689128-47692812	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr1:47691723-47692117	HUVEC	blood vessel:	n/a	n/a
3	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
4	POLR2A	chr1:47691269-47692399	HUVEC	blood vessel:	n/a	n/a
5	SP1	chr1:47691727-47692249	H1-hESC	embryonic stem cell:	n/a	n/a
6	SUZ12	chr1:47690359-47692871	NT2-D1	testis:	n/a	n/a
7	POLR2A	chr1:47691612-47692898	K562	blood:	n/a	n/a
8	POLR2A	chr1:47691727-47692516	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr1:47691988-47692949	K562	blood:	n/a	n/a
10	POLR2A	chr1:47691819-47699200	PBDE	blood:	n/a	n/a
11	BACH1	chr1:47691580-47692202	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr1:47691101-47692530	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr1:47691509-47698177	K562	blood:	n/a	n/a
14	POLR2A	chr1:47689981-47694069	K562	blood:	n/a	n/a

Variant related genes	Relation type
TAL1	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1015890	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10789504	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890471	0.80[EUR][1000 genomes]
rs10890472	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11211479	0.80[EUR][1000 genomes]
rs11211481	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211482	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12057184	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12083555	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12141363	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144626	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12407157	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1543502	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1810658	0.83[AMR][1000 genomes]
rs2008713	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2984618	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34087210	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4134058	0.80[EUR][1000 genomes]
rs4926521	0.80[EUR][1000 genomes]
rs6658125	0.80[EUR][1000 genomes]
rs6669341	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6692253	0.80[EUR][1000 genomes]
rs6695898	0.81[EUR][1000 genomes]
rs6700838	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6701381	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs741959	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs743270	0.80[EUR][1000 genomes]
rs7525145	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7534271	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765861	1.00[ASN][1000 genomes]
rs7664	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs911910	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs977747	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs61782665	RP1-18D14.7	cis	Whole Blood	GTEx

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47689800-47696600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr1:47690000-47692200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr1:47690000-47697600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr1:47690200-47696800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr1:47690400-47692400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
6	chr1:47690400-47693600	Enhancers	Spleen	Spleen
7	chr1:47690600-47692200	Bivalent Enhancer	Esophagus	oesophagus
8	chr1:47690800-47692200	Bivalent Enhancer	Liver	Liver
9	chr1:47690800-47692400	Bivalent/Poised TSS	Psoas Muscle	Psoas
10	chr1:47691000-47692200	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
11	chr1:47691000-47692200	Bivalent Enhancer	Fetal Lung	lung
12	chr1:47691000-47692200	Weak transcription	Gastric	stomach
13	chr1:47691000-47692400	Active TSS	Right Atrium	heart
14	chr1:47691000-47694400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr1:47691200-47692200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr1:47691400-47692200	Flanking Active TSS	Primary hematopoietic stem cells	blood
17	chr1:47691400-47692200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
18	chr1:47691400-47692200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
19	chr1:47691400-47693000	Bivalent Enhancer	Fetal Heart	heart
20	chr1:47691600-47692200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
21	chr1:47691600-47692200	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
22	chr1:47691600-47692200	Bivalent Enhancer	Brain Germinal Matrix	brain
23	chr1:47691600-47692200	Enhancers	Ovary	ovary
24	chr1:47691600-47692400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:47691600-47692400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
26	chr1:47691600-47692400	Bivalent Enhancer	Fetal Stomach	stomach
27	chr1:47691600-47692400	Flanking Bivalent TSS/Enh	HepG2	liver
28	chr1:47691600-47692600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
29	chr1:47691600-47692600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr1:47691600-47692600	Enhancers	Lung	lung
31	chr1:47691600-47692800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:47691600-47694400	Bivalent Enhancer	Fetal Muscle Leg	muscle
33	chr1:47691600-47694800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:47691800-47692200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
35	chr1:47691800-47692200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
36	chr1:47691800-47692200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:47691800-47692200	Bivalent Enhancer	Colonic Mucosa	Colon
38	chr1:47691800-47692200	Bivalent Enhancer	Fetal Intestine Large	intestine
39	chr1:47691800-47692200	Enhancers	Left Ventricle	heart
40	chr1:47691800-47692200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
41	chr1:47691800-47692400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
42	chr1:47691800-47692400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:47691800-47692400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
44	chr1:47691800-47692600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
45	chr1:47691800-47692600	Enhancers	Right Ventricle	heart
46	chr1:47691800-47695200	Weak transcription	Pancreas	Pancrea
47	chr1:47691800-47695600	Flanking Active TSS	HUVEC	blood vessel
48	chr1:47692000-47692200	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr1:47692000-47692200	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
50	chr1:47692000-47692200	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell

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