Variant report

Variant	rs59768987
Chromosome Location	chr2:234308350-234308351
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10181037	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10190365	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10190816	0.83[AMR][1000 genomes]
rs13403667	0.85[AMR][1000 genomes]
rs13406734	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13406844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57020060	1.00[AFR][1000 genomes];1.00[AMR][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	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234270000-234322400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:234272800-234313200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:234277600-234322200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:234294600-234318800	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr2:234295400-234313000	Weak transcription	Small Intestine	intestine
6	chr2:234295800-234318200	Weak transcription	K562	blood
7	chr2:234296800-234309000	Weak transcription	Esophagus	oesophagus
8	chr2:234297200-234308800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:234297200-234310600	Weak transcription	Fetal Brain Female	brain
10	chr2:234297200-234310600	Weak transcription	HUVEC	blood vessel
11	chr2:234297200-234311000	Weak transcription	Fetal Brain Male	brain
12	chr2:234297200-234311400	Weak transcription	Brain Substantia Nigra	brain
13	chr2:234297200-234314600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:234297200-234316800	Weak transcription	Aorta	Aorta
15	chr2:234297200-234317000	Weak transcription	Placenta	Placenta
16	chr2:234297200-234317000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr2:234297200-234317200	Weak transcription	Pancreas	Pancrea
18	chr2:234297200-234317400	Weak transcription	Brain Angular Gyrus	brain
19	chr2:234297200-234317400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr2:234297200-234318600	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:234297200-234319000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr2:234297200-234319000	Weak transcription	Fetal Kidney	kidney
23	chr2:234297200-234319400	Weak transcription	Brain Hippocampus Middle	brain
24	chr2:234297200-234322000	Weak transcription	Hela-S3	cervix
25	chr2:234297200-234322200	Weak transcription	Brain Anterior Caudate	brain
26	chr2:234297400-234309600	Weak transcription	Brain Germinal Matrix	brain
27	chr2:234297400-234316200	Weak transcription	Fetal Lung	lung
28	chr2:234298000-234314600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:234298000-234317200	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr2:234298600-234316200	Weak transcription	Colon Smooth Muscle	Colon
31	chr2:234299200-234316000	Weak transcription	Osteobl	bone
32	chr2:234299200-234319200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr2:234299200-234319200	Weak transcription	NHEK	skin
34	chr2:234299400-234310800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:234299600-234308400	Weak transcription	Colonic Mucosa	Colon
36	chr2:234300000-234318200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr2:234300600-234309400	Strong transcription	Fetal Intestine Small	intestine
38	chr2:234301200-234319800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr2:234301800-234315200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr2:234302800-234308600	Genic enhancers	Primary B cells from peripheral blood	blood
41	chr2:234303000-234319000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:234304800-234311000	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr2:234305200-234309000	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr2:234305400-234308400	Weak transcription	Adipose Nuclei	Adipose
45	chr2:234305400-234308400	Weak transcription	Fetal Muscle Leg	muscle
46	chr2:234305400-234311000	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr2:234305400-234313400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr2:234305400-234317200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr2:234305400-234319000	Weak transcription	HSMMtube	muscle
50	chr2:234305400-234319200	Weak transcription	HSMM	muscle

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