Variant report

Variant	rs59991282
Chromosome Location	chr6:163945627-163945628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:163935041..163936837-chr6:163945446..163947162,2	K562	blood:
2	chr6:163916682..163919334-chr6:163944719..163947401,2	MCF-7	breast:
3	chr6:163941356..163943183-chr6:163944716..163947112,2	K562	blood:
4	chr6:163863869..163866423-chr6:163944458..163946973,2	K562	blood:

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs16895106	0.83[AMR][1000 genomes]
rs16895109	0.83[AMR][1000 genomes]
rs16895112	0.83[AMR][1000 genomes]
rs56003099	0.87[AFR][1000 genomes]
rs56276977	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56375308	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57075041	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57318320	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57767588	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57832687	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57845473	0.93[AFR][1000 genomes]
rs57904637	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57945325	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57992259	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58111601	0.87[AFR][1000 genomes]
rs58159136	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58495293	0.93[AFR][1000 genomes]
rs60058520	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60353098	1.00[AMR][1000 genomes]
rs60606954	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60632275	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60873852	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61358847	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61586762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6934718	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6934729	0.83[AMR][1000 genomes]
rs6936664	0.83[AMR][1000 genomes]
rs73244762	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244765	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73244775	0.87[AFR][1000 genomes]
rs73244776	0.87[AFR][1000 genomes]
rs73244777	0.87[AFR][1000 genomes]
rs73244778	0.87[AFR][1000 genomes]
rs73244781	0.87[AFR][1000 genomes]
rs73244785	0.93[AFR][1000 genomes]
rs73244786	0.93[AFR][1000 genomes]
rs73244787	0.93[AFR][1000 genomes]
rs73244801	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246605	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246607	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246609	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246610	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246620	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246625	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246641	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246647	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246651	0.83[AMR][1000 genomes]
rs73246654	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246656	0.83[AMR][1000 genomes]
rs73246662	0.83[AMR][1000 genomes]
rs73246665	0.83[AMR][1000 genomes]
rs73246671	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246685	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246688	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246696	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73246702	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73248703	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784423	0.87[AFR][1000 genomes]
rs73784425	0.87[AFR][1000 genomes]
rs73784461	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784465	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784482	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784483	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73787626	0.81[AFR][1000 genomes]
rs9688570	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv534621	chr6:163731741-163950870	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1019551	chr6:163842358-163965216	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1017495	chr6:163856399-163981095	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv1027863	chr6:163934616-163965216	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163926600-163946200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr6:163926600-163946600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:163926600-163991800	Weak transcription	Esophagus	oesophagus
4	chr6:163927200-163951600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr6:163928200-163951600	Weak transcription	Spleen	Spleen
6	chr6:163928800-163946600	Weak transcription	HUVEC	blood vessel
7	chr6:163929000-163947200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr6:163929200-163946600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr6:163929200-163946800	Weak transcription	HMEC	breast
10	chr6:163929400-163946600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr6:163929600-163947200	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr6:163929600-163950800	Weak transcription	Fetal Lung	lung
13	chr6:163929600-163951600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:163929800-163957000	Weak transcription	Primary B cells from cord blood	blood
15	chr6:163930600-163950200	Weak transcription	Fetal Muscle Leg	muscle
16	chr6:163934200-163946600	Weak transcription	NHEK	skin
17	chr6:163934200-163949200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:163935200-163946000	Weak transcription	A549	lung
19	chr6:163935200-163946400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr6:163935200-163946800	Weak transcription	Duodenum Smooth Muscle	Duodenum
21	chr6:163935200-163947400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:163935200-163950600	Weak transcription	Ovary	ovary
23	chr6:163935200-163952200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:163935200-163958800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr6:163935200-163959400	Weak transcription	Lung	lung
26	chr6:163935400-163951600	Weak transcription	Pancreas	Pancrea
27	chr6:163936800-163947200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:163936800-163953600	Enhancers	Brain Hippocampus Middle	brain
29	chr6:163936800-163957400	Weak transcription	Fetal Muscle Trunk	muscle
30	chr6:163938200-163951000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr6:163938400-163946200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:163938600-163946200	Weak transcription	Right Atrium	heart
33	chr6:163939800-163956200	Enhancers	Brain Anterior Caudate	brain
34	chr6:163940200-163946400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr6:163940200-163983000	Weak transcription	Primary T helper cells PMA-I stimulated	--
36	chr6:163940400-163946600	Weak transcription	NHDF-Ad	bronchial
37	chr6:163940400-163947600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr6:163940400-163949000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr6:163940400-163950200	Weak transcription	Fetal Brain Female	brain
40	chr6:163941800-163946800	Weak transcription	Osteobl	bone
41	chr6:163941800-163949400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr6:163942000-163945800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr6:163942400-163947200	Weak transcription	Rectal Smooth Muscle	rectum
44	chr6:163942800-163946200	Weak transcription	Right Ventricle	heart
45	chr6:163942800-163946400	Weak transcription	Psoas Muscle	Psoas
46	chr6:163943200-163945800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:163943200-163947800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr6:163943600-163951200	Weak transcription	HepG2	liver
49	chr6:163944000-163945800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr6:163944000-163946400	Weak transcription	Left Ventricle	heart

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