Variant report

Variant	rs693272
Chromosome Location	chr1:67221552-67221553
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:67220223..67221912-chr1:67222295..67224131,2	K562	blood:
2	chr1:67221443..67223945-chr1:67224724..67227311,3	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1032634	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1032635	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1280280	1.00[ASN][1000 genomes]
rs1280310	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1280313	0.91[EUR][1000 genomes]
rs17440989	1.00[ASN][1000 genomes]
rs17492182	1.00[ASN][1000 genomes]
rs2146904	1.00[ASN][1000 genomes]
rs2483704	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2483705	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2916	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs481681	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs485521	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs485543	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs492109	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs499263	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs502690	1.00[ASN][1000 genomes]
rs515944	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs523132	1.00[ASN][1000 genomes]
rs523188	1.00[ASN][1000 genomes]
rs523956	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs524114	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs532564	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs536410	0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs536527	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs539014	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs544258	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs602513	1.00[ASN][1000 genomes]
rs618093	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs628655	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs659291	1.00[ASN][1000 genomes]
rs665319	1.00[ASN][1000 genomes]
rs6668603	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs672230	0.82[AMR][1000 genomes]
rs688630	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72669501	1.00[ASN][1000 genomes]
rs72671621	1.00[ASN][1000 genomes]
rs72922021	1.00[ASN][1000 genomes]
rs7515848	1.00[ASN][1000 genomes]
rs7554101	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869413	chr1:67082512-67414286	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv830093	chr1:67173594-67348264	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67218800-67223400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr1:67219000-67222800	Weak transcription	Pancreas	Pancrea
3	chr1:67219000-67223400	Weak transcription	Brain Substantia Nigra	brain
4	chr1:67219000-67223400	Weak transcription	Fetal Heart	heart
5	chr1:67219000-67223600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr1:67219000-67223800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:67219000-67224000	Weak transcription	Brain Hippocampus Middle	brain
8	chr1:67219000-67224000	Weak transcription	Right Atrium	heart
9	chr1:67219000-67227200	Weak transcription	Muscle Satellite Cultured Cells	--
10	chr1:67219600-67222400	Weak transcription	Left Ventricle	heart
11	chr1:67219800-67223200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr1:67221200-67221600	Enhancers	Liver	Liver
13	chr1:67221200-67227400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:67221400-67222000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr1:67221400-67223800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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