Variant report

Variant	rs2607636
Chromosome Location	chr8:110494071-110494072
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:110491121..110493712-chr8:110493893..110495907,3	MCF-7	breast:
2	chr8:110492889..110495153-chr8:110496090..110498329,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000205038	Chromatin interaction

Extended variants
information (count: 115 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs10088258	0.88[ASN][1000 genomes]
rs10088612	0.91[ASN][1000 genomes]
rs10088684	0.91[ASN][1000 genomes]
rs1009371	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10108943	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10111682	0.88[ASN][1000 genomes]
rs1013482	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1026437	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1044230	0.81[ASN][1000 genomes]
rs10505133	0.91[ASN][1000 genomes]
rs13249244	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13439318	0.91[ASN][1000 genomes]
rs13439864	0.91[ASN][1000 genomes]
rs1379361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1379366	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1379367	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1457282	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1457283	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1457288	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1457294	0.92[ASN][1000 genomes]
rs1457295	0.92[ASN][1000 genomes]
rs1563578	0.92[ASN][1000 genomes]
rs1563580	0.92[ASN][1000 genomes]
rs1617259	0.91[ASN][1000 genomes]
rs1617350	0.91[ASN][1000 genomes]
rs1626759	0.91[AFR][1000 genomes]
rs1630134	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1630942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1673383	0.91[ASN][1000 genomes]
rs1673384	0.91[ASN][1000 genomes]
rs1673386	0.88[ASN][1000 genomes]
rs1673389	0.91[ASN][1000 genomes]
rs1673395	0.91[ASN][1000 genomes]
rs1673399	0.91[ASN][1000 genomes]
rs1673409	0.92[ASN][1000 genomes]
rs1673410	0.92[ASN][1000 genomes]
rs1673411	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1673413	0.92[ASN][1000 genomes]
rs1673415	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1673416	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1673419	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1673420	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1673421	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1673424	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1673425	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1673426	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1673427	0.92[ASN][1000 genomes]
rs1673428	0.92[ASN][1000 genomes]
rs17377636	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17449762	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1783140	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1783147	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1783148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1783153	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1783154	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1783155	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1783157	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1783158	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1783159	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1783160	0.82[EUR][1000 genomes]
rs1783161	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1783162	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1783166	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1783167	0.92[ASN][1000 genomes]
rs1783168	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1783169	0.89[ASN][1000 genomes]
rs1783170	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1783171	0.92[ASN][1000 genomes]
rs1783172	0.92[ASN][1000 genomes]
rs1783173	0.89[ASN][1000 genomes]
rs1783174	0.92[ASN][1000 genomes]
rs1783175	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2022934	0.84[ASN][1000 genomes]
rs2022935	0.88[ASN][1000 genomes]
rs2154660	0.91[ASN][1000 genomes]
rs2607624	0.92[ASN][1000 genomes]
rs2607625	0.92[ASN][1000 genomes]
rs2607627	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2607628	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2607629	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2607630	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2607631	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2607632	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2607633	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2607635	0.91[ASN][1000 genomes]
rs2703377	0.81[ASN][1000 genomes]
rs2703386	0.84[ASN][1000 genomes]
rs2703387	0.81[ASN][1000 genomes]
rs2703389	0.81[ASN][1000 genomes]
rs2844231	0.84[ASN][1000 genomes]
rs2844254	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844255	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2844256	0.93[ASN][1000 genomes]
rs2844257	0.92[ASN][1000 genomes]
rs2844258	0.92[ASN][1000 genomes]
rs2844259	0.92[ASN][1000 genomes]
rs2844260	0.89[ASN][1000 genomes]
rs2844261	0.92[ASN][1000 genomes]
rs3808380	0.81[ASN][1000 genomes]
rs4529437	0.87[ASN][1000 genomes]
rs6995356	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7006166	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7011340	0.91[ASN][1000 genomes]
rs7011803	0.88[ASN][1000 genomes]
rs720139	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs720140	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs730885	0.89[ASN][1000 genomes]
rs753995	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7818726	0.83[ASN][1000 genomes]
rs7821242	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs897840	0.92[ASN][1000 genomes]
rs897842	0.92[ASN][1000 genomes]
rs930877	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];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	nsv1018510	chr8:110403496-110504029	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv891281	chr8:110450092-110558622	Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2607636	PKHD1L1	Cis_1M	lymphoblastoid	RTeQTL
rs2607636	RP11-419L20.2	cis	Thyroid	GTEx
rs2607636	PKHD1L1	cis	Thyroid	GTEx
rs2607636	PKHD1L1	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:110487800-110495000	Weak transcription	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links