Variant report

Variant	rs6588634
Chromosome Location	chr1:56938218-56938219
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	chr1:56937800..56940373-chr1:56942225..56944887,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10888971	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10888972	0.86[ASN][1000 genomes]
rs11206815	0.80[ASN][1000 genomes]
rs11206824	0.93[EUR][1000 genomes]
rs1261410	0.86[ASN][1000 genomes]
rs1261412	1.00[CHB][hapmap]
rs1319274	1.00[CHB][hapmap]
rs1361823	1.00[CHB][hapmap]
rs17407790	1.00[CHB][hapmap]
rs1777276	1.00[CHB][hapmap]
rs1815487	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964940	0.87[ASN][1000 genomes]
rs2151391	0.91[EUR][1000 genomes]
rs2780292	0.82[ASN][1000 genomes]
rs2780857	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4912286	0.91[ASN][1000 genomes]
rs55694910	0.82[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6421496	0.91[EUR][1000 genomes]
rs6421497	0.87[ASN][1000 genomes]
rs6588633	0.87[ASN][1000 genomes]
rs6588635	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6670090	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6691109	0.91[EUR][1000 genomes]
rs6698602	0.87[ASN][1000 genomes]
rs72664303	0.81[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs72664304	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs7365290	0.86[ASN][1000 genomes]
rs7365293	0.86[ASN][1000 genomes]
rs7368386	0.86[ASN][1000 genomes]
rs7513178	0.82[ASN][1000 genomes]
rs7513411	0.86[ASN][1000 genomes]
rs7525346	0.86[ASN][1000 genomes]
rs7527084	0.86[ASN][1000 genomes]
rs7535319	0.86[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56905400-56942600	Weak transcription	Gastric	stomach
2	chr1:56913800-56943200	Weak transcription	Aorta	Aorta
3	chr1:56924200-56942800	Weak transcription	Right Ventricle	heart
4	chr1:56926800-56939000	Weak transcription	Esophagus	oesophagus
5	chr1:56929400-56942400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:56931400-56939200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr1:56932000-56943000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:56934400-56942400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr1:56934400-56942600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr1:56934600-56942600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr1:56934800-56939000	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:56934800-56943000	Weak transcription	Psoas Muscle	Psoas
13	chr1:56935000-56939800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:56935000-56939800	Enhancers	Primary B cells from peripheral blood	blood
15	chr1:56935200-56938800	Weak transcription	Fetal Stomach	stomach
16	chr1:56935200-56939000	Weak transcription	Right Atrium	heart
17	chr1:56935200-56939400	Weak transcription	Left Ventricle	heart
18	chr1:56935200-56939800	Enhancers	Primary neutrophils fromperipheralblood	blood
19	chr1:56935200-56942400	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:56935400-56939600	Weak transcription	Lung	lung
21	chr1:56935800-56939400	Enhancers	HepG2	liver
22	chr1:56936000-56942600	Weak transcription	Osteobl	bone
23	chr1:56936200-56938600	Weak transcription	Brain Anterior Caudate	brain
24	chr1:56936200-56939000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:56936200-56939400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:56936400-56938800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr1:56936400-56939000	Weak transcription	Brain Germinal Matrix	brain
28	chr1:56936400-56939000	Weak transcription	Spleen	Spleen
29	chr1:56936400-56939000	Weak transcription	NHLF	lung
30	chr1:56936400-56939200	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr1:56936400-56939400	Weak transcription	Fetal Heart	heart
32	chr1:56936400-56942600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:56936600-56938600	Weak transcription	Liver	Liver
34	chr1:56936600-56939000	Weak transcription	NHDF-Ad	bronchial
35	chr1:56936600-56942600	Weak transcription	Fetal Kidney	kidney
36	chr1:56936800-56938600	Weak transcription	Brain Hippocampus Middle	brain
37	chr1:56937000-56938400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr1:56937000-56938800	Weak transcription	Colon Smooth Muscle	Colon
39	chr1:56937200-56938600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr1:56937200-56938800	Weak transcription	Stomach Mucosa	stomach
41	chr1:56937400-56939000	Weak transcription	Adipose Nuclei	Adipose
42	chr1:56937400-56939400	Weak transcription	Fetal Lung	lung
43	chr1:56937600-56939600	Enhancers	Primary B cells from cord blood	blood
44	chr1:56937800-56938400	Enhancers	GM12878-XiMat	blood
45	chr1:56937800-56938400	Enhancers	Monocytes-CD14+_RO01746	blood
46	chr1:56937800-56939000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr1:56937800-56939000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr1:56937800-56939200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:56938000-56939400	Enhancers	Primary hematopoietic stem cells short term culture	blood
50	chr1:56938200-56939200	Enhancers	Primary hematopoietic stem cells	blood

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