Variant report

Variant	rs12751701
Chromosome Location	chr1:211797917-211797918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:211751184..211754739-chr1:211795904..211800461,6	K562	blood:
2	chr1:211777656..211789537-chr1:211792028..211798981,15	K562	blood:
3	chr1:211793145..211800078-chr1:211800841..211805263,11	K562	blood:

Variant related genes	Relation type
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12724388	1.00[CEU][hapmap];0.81[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12736496	0.92[CEU][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1470344	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470345	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2184844	1.00[JPT][hapmap]
rs35507775	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4951537	0.86[CEU][hapmap]
rs61851765	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61851769	0.84[ASN][1000 genomes]
rs6540693	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6540694	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6540695	1.00[CEU][hapmap];0.81[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6659316	1.00[JPT][hapmap]
rs6663436	1.00[CHB][hapmap]
rs6664930	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6666442	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6673372	1.00[JPT][hapmap]
rs749964	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7511687	1.00[JPT][hapmap]
rs7516189	1.00[JPT][hapmap]
rs7521959	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7539988	1.00[JPT][hapmap]
rs7554588	1.00[JPT][hapmap]

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12751701	C1orf107	cis	cerebellum	SCAN

Chromatin state (count:16 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211790400-211798400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr1:211790400-211803600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:211793400-211803000	Weak transcription	Fetal Intestine Small	intestine
4	chr1:211795200-211798200	Weak transcription	Hela-S3	cervix
5	chr1:211795200-211800000	Weak transcription	Left Ventricle	heart
6	chr1:211795200-211802400	Weak transcription	Right Atrium	heart
7	chr1:211795200-211803400	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr1:211795400-211798200	Weak transcription	HepG2	liver
9	chr1:211795400-211800200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr1:211796400-211798400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr1:211796400-211798600	Enhancers	Primary hematopoietic stem cells short term culture	blood
12	chr1:211796600-211798400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:211796600-211803600	Weak transcription	Spleen	Spleen
14	chr1:211797000-211800000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:211797200-211800400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:211797800-211798400	Weak transcription	K562	blood

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