Variant report

Variant	rs6692691
Chromosome Location	chr1:47711010-47711011
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:47706169..47709093-chr1:47709485..47711498,2	K562	blood:
2	chr1:47705490..47714722-chr1:47717231..47723503,17	K562	blood:
3	chr1:47709950..47711562-chr1:47715114..47717131,2	K562	blood:
4	chr1:47710711..47713043-chr1:47798786..47800881,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162368	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10789505	0.85[CHB][hapmap];0.94[JPT][hapmap];0.84[ASN][1000 genomes]
rs10890473	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11211485	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11211486	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11211517	0.86[GIH][hapmap]
rs11589932	0.86[ASN][1000 genomes]
rs12024328	0.81[JPT][hapmap]
rs12029934	0.89[ASN][1000 genomes]
rs12032890	0.83[ASN][1000 genomes]
rs12042790	0.83[JPT][hapmap]
rs2070930	0.94[JPT][hapmap]
rs2742104	0.86[GIH][hapmap]
rs2758735	0.86[GIH][hapmap]
rs3122615	0.86[GIH][hapmap]
rs3125628	0.88[GIH][hapmap]
rs3125630	0.86[GIH][hapmap]
rs3125633	0.86[GIH][hapmap]
rs3925058	0.86[GIH][hapmap]
rs6588124	0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs6658496	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6661493	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6664652	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6671254	0.86[GIH][hapmap]
rs6682899	0.89[ASN][1000 genomes]
rs6695693	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7551955	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7552123	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7554050	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6692691	CMPK1	cis	parietal	SCAN
rs6692691	MKNK1	cis	cerebellum	SCAN

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:47705200-47766400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:47705600-47766400	Weak transcription	Primary T cells from cord blood	blood
3	chr1:47705800-47714800	Weak transcription	Fetal Thymus	thymus
4	chr1:47707600-47716600	Weak transcription	Hela-S3	cervix
5	chr1:47707600-47722800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:47707800-47711400	Enhancers	K562	blood
7	chr1:47708000-47715200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:47709800-47714600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:47709800-47716000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr1:47709800-47725400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr1:47709800-47726000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr1:47709800-47745000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:47710000-47716400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:47710000-47716600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr1:47710000-47716600	Weak transcription	HUVEC	blood vessel
16	chr1:47710400-47716600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr1:47710800-47711200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:47711000-47715200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:47711000-47727800	Weak transcription	A549	lung

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