Variant report

Variant	rs688630
Chromosome Location	chr1:67222966-67222967
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: 47 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1032634	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1032635	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11810644	1.00[CHB][hapmap]
rs12070427	1.00[CHB][hapmap]
rs1280280	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1280310	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17129327	1.00[CHB][hapmap]
rs17129329	1.00[CHB][hapmap]
rs17129365	1.00[CHB][hapmap]
rs17440989	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17492182	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2146904	1.00[CHB][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs2483704	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2483705	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2916	1.00[CHB][hapmap];0.94[MEX][hapmap];0.81[TSI][hapmap];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs481681	1.00[ASN][1000 genomes]
rs485521	1.00[CHB][hapmap];0.94[MEX][hapmap];1.00[ASN][1000 genomes]
rs485543	1.00[ASN][1000 genomes]
rs492109	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs499263	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs502690	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs515944	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs523132	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs523188	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs523956	1.00[CHB][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs524114	1.00[CHB][hapmap];0.83[MEX][hapmap];1.00[ASN][1000 genomes]
rs532564	0.95[CEU][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs536410	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs536527	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs539014	1.00[CHB][hapmap];0.81[TSI][hapmap];1.00[ASN][1000 genomes]
rs544258	1.00[ASN][1000 genomes]
rs602513	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs603750	1.00[CHB][hapmap]
rs618093	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs628655	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs659291	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs665319	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6668603	1.00[ASN][1000 genomes]
rs672230	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs693272	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[CHB][hapmap];1.00[ASN][1000 genomes]
rs7554101	1.00[CHB][hapmap];0.83[MEX][hapmap];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

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs688630	TCTEX1D1	cis	parietal	SCAN
rs688630	ROR1	cis	parietal	SCAN
rs688630	TCTEX1D1	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:67218800-67223400	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr1:67219000-67223400	Weak transcription	Brain Substantia Nigra	brain
3	chr1:67219000-67223400	Weak transcription	Fetal Heart	heart
4	chr1:67219000-67223600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:67219000-67223800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr1:67219000-67224000	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:67219000-67224000	Weak transcription	Right Atrium	heart
8	chr1:67219000-67227200	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr1:67219800-67223200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr1:67221200-67227400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr1:67221400-67223800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:67221600-67236400	Weak transcription	Liver	Liver
13	chr1:67222000-67224600	Enhancers	Primary hematopoietic stem cells	blood
14	chr1:67222200-67223200	Enhancers	K562	blood
15	chr1:67222600-67224200	Enhancers	Fetal Muscle Leg	muscle
16	chr1:67222600-67224400	Enhancers	Primary B cells from cord blood	blood
17	chr1:67222800-67223400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:67222800-67223600	Weak transcription	Left Ventricle	heart
19	chr1:67222800-67225400	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:67222800-67236200	Weak transcription	Psoas Muscle	Psoas

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