Variant report

Variant	rs11161808
Chromosome Location	chr1:86846808-86846809
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86834879..86837302-chr1:86845447..86847463,2	K562	blood:

Variant related genes	Relation type
ENSG00000122417	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11161833	0.84[JPT][hapmap]
rs12022446	0.83[AMR][1000 genomes]
rs12023726	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12023799	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12029568	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12030666	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12032435	1.00[CHB][hapmap];0.83[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12034967	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12037028	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12037391	0.83[AMR][1000 genomes]
rs12038144	0.83[AMR][1000 genomes]
rs12038844	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12039899	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12042822	0.83[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs12043873	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12044970	0.83[AMR][1000 genomes]
rs12045012	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12045465	0.83[AMR][1000 genomes]
rs12046199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12046894	0.83[AMR][1000 genomes]
rs12047304	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12047305	0.92[ASN][1000 genomes]
rs12047913	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12048082	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12048329	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12747430	1.00[CHB][hapmap];0.89[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[ASN][1000 genomes]
rs2274999	1.00[CHB][hapmap];0.84[JPT][hapmap];1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs28688345	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28788025	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34204564	0.94[ASN][1000 genomes]
rs3737671	1.00[CHB][hapmap];0.89[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3765509	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3765987	0.91[JPT][hapmap];1.00[MEX][hapmap]
rs3820038	0.82[JPT][hapmap];0.83[AMR][1000 genomes]
rs4497186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs55812833	0.81[ASN][1000 genomes]
rs55825812	0.81[ASN][1000 genomes]
rs55857117	0.87[ASN][1000 genomes]
rs56187142	0.81[ASN][1000 genomes]
rs57955693	0.87[ASN][1000 genomes]
rs58658794	0.87[ASN][1000 genomes]
rs59775624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs969788	0.84[JPT][hapmap]

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	nsv546722	chr1:86278315-86891073	Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1003838	chr1:86591841-87212231	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv1002541	chr1:86689088-86905902	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
4	nsv871866	chr1:86726619-86851420	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1 gene(s)	inside rSNPs	diseases
5	nsv871081	chr1:86806372-86892819	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	3 gene(s)	inside rSNPs	diseases
6	esv1793594	chr1:86833653-86858957	Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86815200-86860200	Weak transcription	Fetal Brain Male	brain
2	chr1:86818000-86851600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:86820200-86854400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr1:86820200-86854800	Weak transcription	HSMMtube	muscle
5	chr1:86820400-86847000	Weak transcription	Liver	Liver
6	chr1:86820400-86848000	Weak transcription	Stomach Smooth Muscle	stomach
7	chr1:86820400-86860200	Weak transcription	NHEK	skin
8	chr1:86820600-86848000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr1:86824000-86848200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:86836600-86860800	Weak transcription	Aorta	Aorta
11	chr1:86839800-86848200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:86840600-86848200	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr1:86840600-86859600	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:86840800-86848600	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr1:86841000-86849000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:86841000-86849400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:86841000-86851400	Weak transcription	HMEC	breast
18	chr1:86841000-86854400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr1:86841000-86859800	Weak transcription	HSMM	muscle
20	chr1:86841600-86859800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr1:86841800-86855000	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr1:86842200-86847000	Weak transcription	HUVEC	blood vessel
23	chr1:86842400-86848200	Weak transcription	Colon Smooth Muscle	Colon
24	chr1:86843400-86847000	Weak transcription	Adipose Nuclei	Adipose
25	chr1:86843400-86847000	Weak transcription	Brain Angular Gyrus	brain
26	chr1:86843400-86847000	Weak transcription	Rectal Smooth Muscle	rectum
27	chr1:86843400-86848000	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr1:86843400-86855000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr1:86843400-86860800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr1:86843600-86847000	Weak transcription	Fetal Stomach	stomach
31	chr1:86843600-86858600	Weak transcription	Brain Hippocampus Middle	brain
32	chr1:86843600-86859200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr1:86843600-86860600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr1:86843600-86860800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr1:86843800-86849000	Weak transcription	Duodenum Mucosa	Duodenum
36	chr1:86843800-86854000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr1:86844200-86848000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr1:86844400-86848000	Weak transcription	Primary B cells from cord blood	blood
39	chr1:86844400-86849200	Weak transcription	Left Ventricle	heart
40	chr1:86844600-86853400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr1:86844800-86855000	Weak transcription	Thymus	Thymus
42	chr1:86844800-86859200	Weak transcription	Brain Germinal Matrix	brain
43	chr1:86844800-86861000	Weak transcription	Fetal Intestine Small	intestine
44	chr1:86845000-86847000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr1:86845000-86848000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:86845000-86850800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr1:86845000-86853800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:86845000-86855000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr1:86845000-86859200	Weak transcription	NH-A	brain
50	chr1:86845000-86859400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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