Variant report

Variant	rs60943334
Chromosome Location	chr2:145701083-145701084
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145692796..145697382-chr2:145698219..145701649,5	K562	blood:
2	chr2:145691983..145697033-chr2:145697956..145702108,6	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10928234	0.97[EUR][1000 genomes]
rs56260527	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs59001323	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs60211308	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61488890	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73005549	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73007426	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73007432	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs73007433	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7557112	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7573849	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7600529	0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv932113	chr2:145515124-145844491	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv834398	chr2:145659419-145830156	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145696000-145701200	Weak transcription	Fetal Muscle Leg	muscle
2	chr2:145696200-145701400	Weak transcription	Adipose Nuclei	Adipose
3	chr2:145696200-145708800	Weak transcription	Brain Angular Gyrus	brain
4	chr2:145697000-145702600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:145697600-145702000	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr2:145699000-145704600	Enhancers	NHDF-Ad	bronchial
7	chr2:145699400-145702400	Enhancers	NH-A	brain
8	chr2:145699400-145703200	Enhancers	Osteobl	bone
9	chr2:145699600-145701400	Enhancers	HSMM	muscle
10	chr2:145699600-145702400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr2:145699800-145701200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:145699800-145702400	Enhancers	NHLF	lung
13	chr2:145699800-145702600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:145699800-145703200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:145699800-145705000	Enhancers	Fetal Intestine Large	intestine
16	chr2:145699800-145705000	Enhancers	Fetal Intestine Small	intestine
17	chr2:145700000-145701200	Enhancers	Hela-S3	cervix
18	chr2:145700000-145701400	Flanking Active TSS	HUVEC	blood vessel
19	chr2:145700000-145702400	Enhancers	Fetal Lung	lung
20	chr2:145700000-145702600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:145700000-145702600	Enhancers	HMEC	breast
22	chr2:145700000-145702800	Enhancers	NHEK	skin
23	chr2:145700000-145703200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:145700000-145705800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr2:145700200-145701200	Enhancers	Brain Hippocampus Middle	brain
26	chr2:145700200-145701200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr2:145700200-145701200	Enhancers	K562	blood
28	chr2:145700200-145701400	Enhancers	Duodenum Mucosa	Duodenum
29	chr2:145700200-145702400	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr2:145700400-145701200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr2:145700400-145701200	Enhancers	Fetal Kidney	kidney
32	chr2:145700400-145701200	Enhancers	Right Atrium	heart
33	chr2:145700400-145702000	Enhancers	Ovary	ovary
34	chr2:145700400-145702400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:145700400-145702400	Enhancers	Brain Substantia Nigra	brain
36	chr2:145700400-145702600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr2:145700400-145703200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr2:145700600-145701400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:145700600-145702600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr2:145700800-145701200	Weak transcription	Colon Smooth Muscle	Colon
41	chr2:145700800-145701200	Enhancers	HSMMtube	muscle
42	chr2:145700800-145702000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:145700800-145702000	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr2:145700800-145703200	Enhancers	Muscle Satellite Cultured Cells	--
45	chr2:145701000-145701200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr2:145701000-145701200	Enhancers	Psoas Muscle	Psoas
47	chr2:145701000-145701400	Enhancers	Stomach Smooth Muscle	stomach
48	chr2:145701000-145702200	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr2:145701000-145702400	Flanking Active TSS	A549	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links