Variant report

Variant	rs2994938
Chromosome Location	chr1:85064945-85064946
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	chr1:85060422..85063217-chr1:85063481..85066367,2	K562	blood:
2	chr1:85038534..85040973-chr1:85062371..85064960,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000117151	Chromatin interaction

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

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

rs_ID	r²[population]
rs12119873	0.87[EUR][1000 genomes]
rs12123470	0.85[EUR][1000 genomes]
rs12127160	0.87[EUR][1000 genomes]
rs12137275	0.81[EUR][1000 genomes]
rs12145771	0.85[EUR][1000 genomes]
rs1417295	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1517601	0.86[EUR][1000 genomes]
rs1914477	0.87[EUR][1000 genomes]
rs2203455	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2303307	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2911588	0.81[AMR][1000 genomes]
rs2911591	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2911592	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2911595	0.84[ASN][1000 genomes]
rs2911597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2911598	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2911599	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2911607	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2911609	0.96[EUR][1000 genomes]
rs2943671	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2945143	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2945145	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2945147	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2945153	0.84[EUR][1000 genomes]
rs2994435	0.87[EUR][1000 genomes]
rs2994934	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2994935	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2994937	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2994943	0.86[ASN][1000 genomes]
rs2994947	0.84[ASN][1000 genomes]
rs2994948	0.81[EUR][1000 genomes]
rs41299545	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7517756	0.85[EUR][1000 genomes]
rs880412	0.83[EUR][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	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak 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	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85051000-85069800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:85062800-85066800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:85063400-85065400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:85063600-85065000	Weak transcription	Aorta	Aorta
5	chr1:85063600-85065400	Enhancers	NHDF-Ad	bronchial
6	chr1:85064000-85065000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr1:85064200-85065000	Enhancers	Hela-S3	cervix
8	chr1:85064200-85065000	Flanking Active TSS	NH-A	brain
9	chr1:85064200-85065400	Enhancers	Colon Smooth Muscle	Colon
10	chr1:85064200-85065600	Enhancers	Brain Angular Gyrus	brain
11	chr1:85064200-85065600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:85064200-85065800	Flanking Active TSS	GM12878-XiMat	blood
13	chr1:85064400-85065000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:85064400-85065200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr1:85064400-85065200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:85064400-85065200	Enhancers	Primary B cells from peripheral blood	blood
17	chr1:85064400-85065200	Flanking Active TSS	Osteobl	bone
18	chr1:85064400-85065800	Enhancers	Rectal Smooth Muscle	rectum
19	chr1:85064400-85066000	Enhancers	HMEC	breast
20	chr1:85064400-85066000	Enhancers	NHEK	skin
21	chr1:85064400-85066400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:85064600-85065000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:85064600-85065000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr1:85064600-85065000	Enhancers	Stomach Smooth Muscle	stomach
25	chr1:85064600-85065200	Flanking Active TSS	HSMM	muscle
26	chr1:85064600-85065600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr1:85064600-85066000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:85064600-85066200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:85064800-85065000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:85064800-85065200	Enhancers	Brain Hippocampus Middle	brain
31	chr1:85064800-85065200	Enhancers	Fetal Intestine Small	intestine
32	chr1:85064800-85065200	Flanking Active TSS	HSMMtube	muscle
33	chr1:85064800-85065200	Flanking Active TSS	HUVEC	blood vessel
34	chr1:85064800-85065200	Flanking Active TSS	NHLF	lung
35	chr1:85064800-85065600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr1:85064800-85065600	Enhancers	Fetal Muscle Leg	muscle
37	chr1:85064800-85065600	Enhancers	Left Ventricle	heart
38	chr1:85064800-85065800	Enhancers	Skeletal Muscle Male	skeletal muscle
39	chr1:85064800-85065800	Enhancers	Skeletal Muscle Female	skeletal muscle
40	chr1:85064800-85066200	Enhancers	Fetal Heart	heart
41	chr1:85064800-85067000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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