Variant report

Variant	rs263982
Chromosome Location	chr1:45391940-45391941
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:45389689..45392269-chr1:45413336..45415947,2	K562	blood:
2	chr1:45391142..45392671-chr1:45397948..45400134,2	K562	blood:

Variant related genes	Relation type
ENSG00000253039	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1226572	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs263962	0.81[ASN][1000 genomes]
rs263965	0.90[ASN][1000 genomes]
rs263966	0.92[AFR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs263975	0.82[ASN][1000 genomes]
rs263977	0.82[ASN][1000 genomes]
rs263980	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs263987	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs263990	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs263998	0.81[AFR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs264005	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs264009	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs264011	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs264014	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3121173	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36107413	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs398200	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs399628	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs401665	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs438493	0.85[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs452989	0.86[AFR][1000 genomes];0.86[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs489676	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs61789958	0.89[ASN][1000 genomes]
rs620764	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs659293	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9429058	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
2	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
3	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
4	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45347600-45410800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:45350800-45411800	Weak transcription	Left Ventricle	heart
3	chr1:45355800-45411200	Weak transcription	Fetal Lung	lung
4	chr1:45356000-45407000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr1:45356000-45423800	Weak transcription	Thymus	Thymus
6	chr1:45357400-45411800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:45358200-45396800	Weak transcription	Fetal Intestine Small	intestine
8	chr1:45359000-45411800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:45359200-45396800	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr1:45359200-45423600	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr1:45360600-45410000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:45360800-45396800	Weak transcription	Primary B cells from cord blood	blood
13	chr1:45362200-45424200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr1:45362400-45397000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:45369400-45396800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:45373000-45411600	Weak transcription	HepG2	liver
17	chr1:45374400-45396600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr1:45374600-45392000	Weak transcription	Adipose Nuclei	Adipose
19	chr1:45375200-45411800	Weak transcription	Aorta	Aorta
20	chr1:45377200-45392200	Weak transcription	Fetal Muscle Leg	muscle
21	chr1:45378200-45412000	Weak transcription	Brain Hippocampus Middle	brain
22	chr1:45378400-45396600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:45378600-45412200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:45381400-45392000	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:45384600-45412600	Weak transcription	Psoas Muscle	Psoas
26	chr1:45384800-45406800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr1:45386200-45406600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr1:45386400-45411600	Weak transcription	Fetal Kidney	kidney
29	chr1:45387200-45405800	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr1:45387400-45392400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:45387800-45413000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:45387800-45413200	Weak transcription	Spleen	Spleen
33	chr1:45388200-45408400	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:45388400-45412800	Weak transcription	Brain Germinal Matrix	brain
35	chr1:45388800-45392200	Weak transcription	Fetal Intestine Large	intestine
36	chr1:45389000-45405600	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr1:45389000-45412600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:45389200-45407400	Weak transcription	Brain Substantia Nigra	brain
39	chr1:45389200-45412800	Weak transcription	Brain Anterior Caudate	brain
40	chr1:45389200-45450200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr1:45389600-45404000	Weak transcription	Fetal Brain Female	brain
42	chr1:45389800-45393000	Weak transcription	Placenta	Placenta
43	chr1:45389800-45412400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:45390000-45392400	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr1:45390000-45392600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr1:45390200-45394400	Weak transcription	Fetal Brain Male	brain
47	chr1:45390400-45392000	Weak transcription	Fetal Stomach	stomach
48	chr1:45390400-45392600	Strong transcription	K562	blood
49	chr1:45390400-45426200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr1:45390600-45392600	Strong transcription	Primary T cells from cord blood	blood

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