Variant report

Variant	rs59356371
Chromosome Location	chr1:98364770-98364771
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:98355629..98357546-chr1:98364329..98366044,2	K562	blood:
2	chr1:98355629..98357274-chr1:98363279..98366044,2	K562	blood:

Extended variants
information (count: 78 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs12059591	1.00[AMR][1000 genomes]
rs12074249	1.00[EUR][1000 genomes]
rs1889227	1.00[EUR][1000 genomes]
rs57653088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58243347	1.00[AMR][1000 genomes]
rs58638365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58639633	1.00[AMR][1000 genomes]
rs58893462	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59037638	1.00[AMR][1000 genomes]
rs59538909	1.00[AMR][1000 genomes]
rs59954273	1.00[AMR][1000 genomes]
rs60078043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60887083	1.00[AMR][1000 genomes]
rs60911244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61174144	1.00[AMR][1000 genomes]
rs61211497	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61492808	1.00[AMR][1000 genomes]
rs6662081	1.00[AMR][1000 genomes]
rs72963706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72963734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72963743	1.00[AMR][1000 genomes]
rs72963747	1.00[AMR][1000 genomes]
rs72963772	1.00[AMR][1000 genomes]
rs72967637	1.00[AMR][1000 genomes]
rs72967645	1.00[AMR][1000 genomes]
rs72967661	1.00[AMR][1000 genomes]
rs72969626	1.00[AMR][1000 genomes]
rs72969641	1.00[AMR][1000 genomes]
rs72969655	1.00[AMR][1000 genomes]
rs72969666	1.00[AMR][1000 genomes]
rs72969667	1.00[AMR][1000 genomes]
rs72969669	1.00[AMR][1000 genomes]
rs72969673	1.00[AMR][1000 genomes]
rs72969678	1.00[AMR][1000 genomes]
rs72969696	1.00[AMR][1000 genomes]
rs72969699	1.00[AMR][1000 genomes]
rs72979743	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979754	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979756	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979773	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979780	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72979788	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72981735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72981737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72981745	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981754	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981756	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981760	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981761	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981763	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72981771	1.00[EUR][1000 genomes]
rs72981774	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74106051	1.00[AMR][1000 genomes]
rs7517110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7553077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530049	chr1:97883261-98384614	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1012958	chr1:98081528-98864746	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870596	chr1:98165091-98365310	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv871625	chr1:98165091-98564736	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv871050	chr1:98187755-98365310	Weak transcription Strong transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv871651	chr1:98200719-98365310	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv830725	chr1:98257894-98443497	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv934244	chr1:98260729-98415915	Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv871376	chr1:98274132-98365310	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv871077	chr1:98274132-98541677	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
11	nsv871224	chr1:98290577-98365310	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	nsv870944	chr1:98299475-98365310	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	nsv2032	chr1:98319851-98369285	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
14	nsv870727	chr1:98322379-98365310	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:98309400-98367200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:98352200-98366800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr1:98357400-98369600	Weak transcription	Fetal Lung	lung
4	chr1:98359000-98366800	Weak transcription	Colon Smooth Muscle	Colon
5	chr1:98359400-98366800	Weak transcription	NHLF	lung
6	chr1:98360000-98364800	Weak transcription	HUVEC	blood vessel
7	chr1:98360000-98366200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr1:98360000-98366200	Weak transcription	Osteobl	bone
9	chr1:98360000-98366400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr1:98360000-98366800	Weak transcription	NHDF-Ad	bronchial
11	chr1:98361800-98366800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr1:98363000-98366000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:98363400-98365000	ZNF genes & repeats	Primary T helper naive cells from peripheral blood	blood
14	chr1:98363600-98365000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
15	chr1:98363600-98365600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
16	chr1:98363600-98366000	ZNF genes & repeats	Dnd41	blood
17	chr1:98363800-98365600	ZNF genes & repeats	Primary T cells from cord blood	blood
18	chr1:98364000-98365800	ZNF genes & repeats	Primary B cells from cord blood	blood
19	chr1:98364200-98364800	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
20	chr1:98364200-98364800	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
21	chr1:98364400-98365000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
22	chr1:98364400-98365000	Enhancers	Stomach Smooth Muscle	stomach
23	chr1:98364400-98365000	Strong transcription	HSMM	muscle
24	chr1:98364400-98365400	Weak transcription	Aorta	Aorta
25	chr1:98364400-98369400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:98364600-98364800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:98364600-98364800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:98364600-98364800	ZNF genes & repeats	Brain Anterior Caudate	brain
29	chr1:98364600-98365000	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:98364600-98365000	ZNF genes & repeats	Fetal Thymus	thymus
31	chr1:98364600-98365200	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr1:98364600-98366600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:98364600-98366800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr1:98364600-98366800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
35	chr1:98364600-98377200	Weak transcription	Primary T cells fromperipheralblood	blood

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