Variant report

Variant	rs2984618
Chromosome Location	chr1:47690438-47690439
allele	A/C
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	chr1:47677228-47691056	K562	blood:	n/a	n/a
2	POLR2A	chr1:47689845-47690983	PBDE	blood:	n/a	n/a
3	GATA2	chr1:47690369-47691031	SH-SY5Y	brain:	n/a	chr1:47690646-47690662 chr1:47690649-47690659 chr1:47690650-47690659 chr1:47690645-47690659 chr1:47690650-47690657
4	SUZ12	chr1:47689128-47692812	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:47689877-47691312	K562	blood:	n/a	n/a
6	SUZ12	chr1:47690359-47692871	NT2-D1	testis:	n/a	n/a
7	CTBP2	chr1:47690214-47691687	H1-hESC	embryonic stem cell:	n/a	n/a
8	GATA1	chr1:47690326-47690961	PBDE	blood:	n/a	chr1:47690646-47690662 chr1:47690649-47690659 chr1:47690650-47690659 chr1:47690650-47690657
9	GATA2	chr1:47690400-47690995	HUVEC	blood vessel:	n/a	chr1:47690646-47690662 chr1:47690649-47690659 chr1:47690650-47690659 chr1:47690645-47690659 chr1:47690650-47690657
10	POLR2A	chr1:47689763-47691090	K562	blood:	n/a	n/a
11	POLR2A	chr1:47689981-47694069	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:47649719..47650236-chr1:47690245..47690745,2	K562	blood:

Variant related genes	Relation type
ENSG00000226252	TF binding region
TAL1	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1015890	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10789504	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10890471	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10890472	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11211479	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11211480	0.92[CEU][hapmap];1.00[CHD][hapmap];0.80[TSI][hapmap]
rs11211481	1.00[CEU][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211482	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12057184	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12083555	0.91[GIH][hapmap];0.87[MEX][hapmap];0.90[TSI][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12141363	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12144626	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12145836	0.81[AMR][1000 genomes]
rs12407157	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1543502	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2008713	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34087210	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4134058	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4926521	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4926524	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4926725	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs4926726	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs61782665	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6588196	1.00[CHD][hapmap]
rs6658125	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6669341	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6692253	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6695898	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6700838	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.89[LWK][hapmap];0.91[MEX][hapmap];0.93[MKK][hapmap];0.97[TSI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6701381	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs741959	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs743270	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7525145	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7534271	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];0.84[LWK][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765861	1.00[ASN][1000 genomes]
rs7664	1.00[CEU][hapmap];0.87[GIH][hapmap];0.96[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs911910	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs977747	1.00[CEU][hapmap];0.87[GIH][hapmap];0.91[MEX][hapmap];0.94[MKK][hapmap];1.00[TSI][hapmap];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2984618	CMPK1	cis	lymphoblastoid	seeQTL
rs2984618	STIL	cis	cerebellum	SCAN
rs2984618	CYP4A11	cis	parietal	SCAN
rs2984618	MPL	cis	cerebellum	SCAN
rs2984618	RP1-18D14.7	cis	Whole Blood	GTEx
rs2984618	BEST4	cis	cerebellum	SCAN

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47674400-47690600	Weak transcription	Gastric	stomach
2	chr1:47686400-47690600	Weak transcription	Right Ventricle	heart
3	chr1:47688600-47690600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:47688800-47690800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:47689200-47690600	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
6	chr1:47689400-47690800	Bivalent Enhancer	Lung	lung
7	chr1:47689600-47691000	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
8	chr1:47689800-47690600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
9	chr1:47689800-47691200	Bivalent Enhancer	Left Ventricle	heart
10	chr1:47689800-47696600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:47690000-47690600	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
12	chr1:47690000-47690600	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
13	chr1:47690000-47690600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr1:47690000-47690600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
15	chr1:47690000-47690800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
16	chr1:47690000-47690800	Bivalent Enhancer	Brain Anterior Caudate	brain
17	chr1:47690000-47691000	Genic enhancers	K562	blood
18	chr1:47690000-47692200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:47690000-47697600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:47690200-47690600	Enhancers	Primary hematopoietic stem cells	blood
21	chr1:47690200-47690600	Bivalent Enhancer	Fetal Lung	lung
22	chr1:47690200-47690600	Bivalent Enhancer	HepG2	liver
23	chr1:47690200-47690800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:47690200-47690800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
25	chr1:47690200-47691000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:47690200-47691000	Bivalent Enhancer	Brain Germinal Matrix	brain
27	chr1:47690200-47691000	Bivalent Enhancer	Fetal Intestine Large	intestine
28	chr1:47690200-47691000	Flanking Active TSS	HUVEC	blood vessel
29	chr1:47690200-47696800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
30	chr1:47690400-47690600	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
31	chr1:47690400-47690600	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr1:47690400-47690600	Bivalent Enhancer	Liver	Liver
33	chr1:47690400-47690600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
34	chr1:47690400-47690600	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
35	chr1:47690400-47690600	Bivalent/Poised TSS	Colonic Mucosa	Colon
36	chr1:47690400-47690600	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon
37	chr1:47690400-47690600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
38	chr1:47690400-47690600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
39	chr1:47690400-47690600	Bivalent Enhancer	Stomach Mucosa	stomach
40	chr1:47690400-47690800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
41	chr1:47690400-47690800	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
42	chr1:47690400-47690800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr1:47690400-47690800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:47690400-47690800	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:47690400-47690800	Enhancers	Pancreas	Pancrea
46	chr1:47690400-47690800	Genic enhancers	Right Atrium	heart
47	chr1:47690400-47690800	Bivalent Enhancer	NH-A	brain
48	chr1:47690400-47691000	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
49	chr1:47690400-47691000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:47690400-47691000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell

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