Variant report

Variant	rs6684123
Chromosome Location	chr1:56936836-56936837
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:56935156..56937645-chr1:56940992..56943740,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11206812	0.88[EUR][1000 genomes]
rs11206816	0.82[ASN][1000 genomes]
rs11206817	0.82[ASN][1000 genomes]
rs11206818	0.82[ASN][1000 genomes]
rs11206822	0.83[EUR][1000 genomes]
rs11206823	0.83[ASN][1000 genomes]
rs11206825	0.81[ASN][1000 genomes]
rs11206826	0.83[AFR][1000 genomes]
rs12128107	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12138516	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12140958	0.82[EUR][1000 genomes]
rs12739002	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12755498	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs12755655	0.93[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs2780866	0.81[EUR][1000 genomes]
rs4128921	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4912291	0.83[ASN][1000 genomes]
rs6676745	0.84[EUR][1000 genomes]
rs6682210	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6682251	0.81[EUR][1000 genomes]
rs6690687	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7418187	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7522127	0.81[EUR][1000 genomes]
rs7539463	0.83[AFR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	esv1115086	chr1:56936821-56936837	Weak transcription Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

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	chr1:56934600-56937200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:56934600-56942600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr1:56934800-56939000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr1:56934800-56943000	Weak transcription	Psoas Muscle	Psoas
14	chr1:56935000-56937400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr1:56935000-56939800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr1:56935000-56939800	Enhancers	Primary B cells from peripheral blood	blood
17	chr1:56935200-56938800	Weak transcription	Fetal Stomach	stomach
18	chr1:56935200-56939000	Weak transcription	Right Atrium	heart
19	chr1:56935200-56939400	Weak transcription	Left Ventricle	heart
20	chr1:56935200-56939800	Enhancers	Primary neutrophils fromperipheralblood	blood
21	chr1:56935200-56942400	Weak transcription	Fetal Muscle Leg	muscle
22	chr1:56935400-56937200	Enhancers	HUVEC	blood vessel
23	chr1:56935400-56939600	Weak transcription	Lung	lung
24	chr1:56935800-56937400	Enhancers	Fetal Lung	lung
25	chr1:56935800-56939400	Enhancers	HepG2	liver
26	chr1:56936000-56937200	Enhancers	Primary B cells from cord blood	blood
27	chr1:56936000-56937200	Enhancers	Stomach Mucosa	stomach
28	chr1:56936000-56942600	Weak transcription	Osteobl	bone
29	chr1:56936200-56937800	Weak transcription	GM12878-XiMat	blood
30	chr1:56936200-56938600	Weak transcription	Brain Anterior Caudate	brain
31	chr1:56936200-56939000	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:56936200-56939400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr1:56936400-56938800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr1:56936400-56939000	Weak transcription	Brain Germinal Matrix	brain
35	chr1:56936400-56939000	Weak transcription	Spleen	Spleen
36	chr1:56936400-56939000	Weak transcription	NHLF	lung
37	chr1:56936400-56939200	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr1:56936400-56939400	Weak transcription	Fetal Heart	heart
39	chr1:56936400-56942600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr1:56936600-56938600	Weak transcription	Liver	Liver
41	chr1:56936600-56939000	Weak transcription	NHDF-Ad	bronchial
42	chr1:56936600-56942600	Weak transcription	Fetal Kidney	kidney
43	chr1:56936800-56937000	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr1:56936800-56937000	Enhancers	Colon Smooth Muscle	Colon
45	chr1:56936800-56937200	Weak transcription	Adipose Nuclei	Adipose
46	chr1:56936800-56938600	Weak transcription	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links