Variant report

Variant	rs1791677
Chromosome Location	chr11:66232272-66232273
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:66217732..66219422-chr11:66230658..66233327,2	K562	blood:
2	chr11:66222024..66226628-chr11:66227285..66232511,5	MCF-7	breast:

Extended variants
information (count: 57 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1039593	1.00[EUR][1000 genomes]
rs10750785	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10750787	1.00[EUR][1000 genomes]
rs10791871	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10791875	1.00[EUR][1000 genomes]
rs10791877	1.00[EUR][1000 genomes]
rs1189692	1.00[EUR][1000 genomes]
rs1190626	1.00[TSI][hapmap]
rs1190627	1.00[EUR][1000 genomes]
rs1190628	1.00[EUR][1000 genomes]
rs1190630	1.00[EUR][1000 genomes]
rs1203483	1.00[EUR][1000 genomes]
rs12281049	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1320675	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1344410	1.00[TSI][hapmap]
rs1532823	1.00[EUR][1000 genomes]
rs1566871	1.00[EUR][1000 genomes]
rs1621469	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1700188	1.00[EUR][1000 genomes]
rs1784030	1.00[EUR][1000 genomes]
rs1784035	1.00[EUR][1000 genomes]
rs1785623	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs1785624	1.00[EUR][1000 genomes]
rs1785636	1.00[EUR][1000 genomes]
rs2292123	1.00[TSI][hapmap]
rs3016763	1.00[EUR][1000 genomes]
rs3132761	1.00[EUR][1000 genomes]
rs35599411	1.00[EUR][1000 genomes]
rs3850949	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs3867130	1.00[ASW][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];1.00[EUR][1000 genomes]
rs4290235	1.00[EUR][1000 genomes]
rs4930358	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4930359	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs4930361	1.00[EUR][1000 genomes]
rs4930364	1.00[EUR][1000 genomes]
rs4930367	1.00[EUR][1000 genomes]
rs4930388	0.86[AFR][1000 genomes]
rs495264	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs525698	1.00[EUR][1000 genomes]
rs548344	1.00[EUR][1000 genomes]
rs580850	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6421643	1.00[TSI][hapmap]
rs670900	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7104297	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7105162	1.00[EUR][1000 genomes]
rs7125100	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7130857	1.00[EUR][1000 genomes]
rs7131396	1.00[EUR][1000 genomes]
rs71457730	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs908693	1.00[EUR][1000 genomes]
rs948359	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
2	nsv897771	chr11:66011280-66362997	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	124 gene(s)	inside rSNPs	diseases
3	nsv897772	chr11:66018155-66254085	Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases
4	nsv897780	chr11:66083129-66362997	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv832193	chr11:66120339-66278805	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
6	nsv897786	chr11:66203025-66244015	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1791677	HDGFRP3	trans	lymphoblastoid	seeQTL

Chromatin state (count:17 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:66219800-66233800	Weak transcription	Aorta	Aorta
2	chr11:66223800-66232400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:66227000-66233200	Weak transcription	Stomach Smooth Muscle	stomach
4	chr11:66227200-66233600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr11:66227400-66232400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr11:66227400-66232400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr11:66229200-66232800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr11:66229600-66232400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr11:66229800-66233400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr11:66230000-66233400	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr11:66232200-66232400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr11:66232200-66232400	Enhancers	Duodenum Mucosa	Duodenum
13	chr11:66232200-66233200	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr11:66232200-66233400	Enhancers	Primary B cells from cord blood	blood
15	chr11:66232200-66233400	Enhancers	Primary B cells from peripheral blood	blood
16	chr11:66232200-66233400	Enhancers	Fetal Thymus	thymus
17	chr11:66232200-66233600	Enhancers	Fetal Muscle Leg	muscle

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