Variant report

Variant	rs11747997
Chromosome Location	chr5:142790752-142790753
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:142783356..142786232-chr5:142789079..142791701,2	MCF-7	breast:
2	chr5:142789222..142791860-chr5:142794676..142796552,2	K562	blood:
3	chr5:142788694..142792044-chr5:142796699..142799273,3	K562	blood:
4	chr5:142783227..142787898-chr5:142788004..142797496,15	K562	blood:
5	chr5:142658714..142660899-chr5:142788959..142790974,2	K562	blood:

Variant related genes	Relation type
ENSG00000113580	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10052957	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10482614	0.87[ASN][1000 genomes]
rs1438732	0.95[ASN][1000 genomes]
rs174048	0.91[ASN][1000 genomes]
rs174050	0.91[ASN][1000 genomes]
rs1837262	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1866388	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs190488	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2043840	0.95[ASN][1000 genomes]
rs258748	0.91[ASN][1000 genomes]
rs258750	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs258751	0.91[ASN][1000 genomes]
rs258813	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs258814	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2918415	0.95[ASN][1000 genomes]
rs2918416	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2918417	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2918418	0.95[ASN][1000 genomes]
rs2918419	0.95[ASN][1000 genomes]
rs2963148	0.95[ASN][1000 genomes]
rs2963149	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2963150	0.95[ASN][1000 genomes]
rs2963153	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2963154	0.95[ASN][1000 genomes]
rs33380	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs33381	0.95[ASN][1000 genomes]
rs33382	0.95[ASN][1000 genomes]
rs33389	0.91[ASN][1000 genomes]
rs6188	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6194	0.91[ASN][1000 genomes]
rs6196	0.91[ASN][1000 genomes]
rs6861962	0.95[ASN][1000 genomes]
rs712189	0.80[ASN][1000 genomes]
rs72801090	1.00[ASN][1000 genomes]
rs852975	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs852977	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs852978	0.91[ASN][1000 genomes]
rs852979	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs852982	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs852984	0.95[ASN][1000 genomes]
rs853182	0.91[ASN][1000 genomes]
rs853184	0.91[ASN][1000 genomes]
rs860457	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs860458	0.91[ASN][1000 genomes]
rs864082	0.91[ASN][1000 genomes]
rs865482	0.91[ASN][1000 genomes]
rs9324918	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	nsv1023976	chr5:142692062-142813664	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv882994	chr5:142770135-142791677	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:142785000-142798200	Weak transcription	Spleen	Spleen
2	chr5:142785400-142795800	Weak transcription	Small Intestine	intestine
3	chr5:142785600-142791600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:142785600-142793200	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr5:142785600-142793400	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr5:142785600-142795800	Weak transcription	Pancreas	Pancrea
7	chr5:142786200-142792200	Weak transcription	NHDF-Ad	bronchial
8	chr5:142786200-142792800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr5:142786200-142796000	Weak transcription	HepG2	liver
10	chr5:142786400-142791400	Weak transcription	Liver	Liver
11	chr5:142787400-142791400	Weak transcription	Hela-S3	cervix
12	chr5:142788000-142792800	Weak transcription	GM12878-XiMat	blood
13	chr5:142788600-142791200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr5:142789000-142796000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr5:142789000-142796200	Enhancers	Dnd41	blood
16	chr5:142789400-142790800	Enhancers	Primary T helper cells PMA-I stimulated	--
17	chr5:142789400-142791400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr5:142789600-142791400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr5:142790400-142811800	Weak transcription	Primary T cells from cord blood	blood

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