Variant report

Variant	rs8113741
Chromosome Location	chr19:42308603-42308604
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:42308244-42308764	Raji	blood:	n/a	n/a
2	STAT3	chr19:42308402-42308679	MCF10A-Er-Src	breast:	n/a	n/a
3	STAT3	chr19:42308408-42308702	MCF10A-Er-Src	breast:	n/a	n/a
4	SPI1	chr19:42308395-42308779	HL-60	blood:	n/a	n/a
5	FOS	chr19:42308510-42308710	MCF10A-Er-Src	breast:	n/a	n/a
6	STAT3	chr19:42308456-42308725	MCF10A-Er-Src	breast:	n/a	n/a
7	SRF	chr19:42308423-42308705	GM12878	blood:	n/a	chr19:42308578-42308596 chr19:42308582-42308593 chr19:42308583-42308592 chr19:42308581-42308594 chr19:42308578-42308592 chr19:42308581-42308594 chr19:42308576-42308593 chr19:42308579-42308596

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42307703..42310642-chr19:42313204..42315165,2	K562	blood:

Variant related genes	Relation type
CEACAM3	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10401370	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10401528	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10401928	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10404939	0.82[ASN][1000 genomes]
rs10407206	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10407619	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10407797	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10408367	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10410918	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10414356	0.81[ASN][1000 genomes]
rs10414823	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10416824	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10418100	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10419111	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10419827	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10426020	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10426049	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10426243	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10500284	0.89[EUR][1000 genomes]
rs12976571	0.82[ASN][1000 genomes]
rs12979253	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1457144	0.82[ASN][1000 genomes]
rs1811564	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1870093	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2008798	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2008808	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2199829	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2199830	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2290695	0.82[ASN][1000 genomes]
rs28821622	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28824227	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28847113	0.89[EUR][1000 genomes]
rs34819714	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3795022	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3922888	0.81[ASN][1000 genomes]
rs4130852	0.81[ASN][1000 genomes]
rs4480913	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4803511	0.81[ASN][1000 genomes]
rs62117403	0.89[EUR][1000 genomes]
rs6508998	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6508999	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6509000	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7248641	0.82[ASN][1000 genomes]
rs7251154	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7251336	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7251783	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7251799	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7251960	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7258053	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs734107	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs734109	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8099934	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8100182	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8104958	0.82[ASN][1000 genomes]
rs8106505	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8110199	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8113283	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8113538	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8113641	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8113720	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8113780	0.82[ASN][1000 genomes]
rs8113813	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs899662	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv579615	chr19:42221434-42310388	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	esv2568775	chr19:42307141-42308663	Enhancers Flanking Active TSS Weak transcription	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv3351362	chr19:42307636-42311347	Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs8113741	RABAC1	Cis_1M	lymphoblastoid	RTeQTL
rs8113741	DMRTC2	cis	Whole Blood	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42304800-42316800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr19:42305000-42309000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:42305000-42310000	Enhancers	Primary hematopoietic stem cells short term culture	blood
4	chr19:42305200-42308800	Enhancers	Primary B cells from peripheral blood	blood
5	chr19:42307000-42313600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr19:42307000-42314600	Weak transcription	Fetal Thymus	thymus
7	chr19:42307200-42309200	Enhancers	Primary hematopoietic stem cells	blood
8	chr19:42307200-42310000	Enhancers	Monocytes-CD14+_RO01746	blood
9	chr19:42307800-42309600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr19:42307800-42310200	Enhancers	Primary B cells from cord blood	blood
11	chr19:42308200-42308800	Enhancers	GM12878-XiMat	blood
12	chr19:42308200-42309000	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr19:42308200-42309000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr19:42308200-42309200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr19:42308600-42308800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links