Variant report

Variant	rs55649298
Chromosome Location	chr2:233789764-233789765
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:233757939..233760469-chr2:233789148..233791862,2	K562	blood:
2	chr2:233725493..233728211-chr2:233788384..233791443,3	K562	blood:
3	chr2:233757939..233761647-chr2:233789148..233791862,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs13390935	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13391061	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13423949	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs67267176	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs751908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3377192	chr2:233758324-233835472	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv1014548	chr2:233777859-233816018	Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233767200-233790400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr2:233777400-233789800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr2:233781800-233789800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:233781800-233791800	Weak transcription	Pancreas	Pancrea
5	chr2:233784000-233791400	Strong transcription	Liver	Liver
6	chr2:233785000-233792000	Weak transcription	Gastric	stomach
7	chr2:233785200-233789800	Weak transcription	Brain Anterior Caudate	brain
8	chr2:233785200-233790000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:233786400-233790000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr2:233789200-233790000	Strong transcription	Rectal Mucosa Donor 31	rectum
11	chr2:233789200-233791200	Bivalent Enhancer	Fetal Muscle Leg	muscle
12	chr2:233789200-233791400	Enhancers	Esophagus	oesophagus
13	chr2:233789200-233791600	Strong transcription	HepG2	liver
14	chr2:233789400-233789800	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr2:233789400-233790400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
16	chr2:233789400-233790400	Weak transcription	HSMM	muscle
17	chr2:233789400-233791600	Enhancers	HSMMtube	muscle
18	chr2:233789600-233789800	Weak transcription	Colonic Mucosa	Colon
19	chr2:233789600-233789800	Weak transcription	Fetal Intestine Small	intestine
20	chr2:233789600-233790000	Weak transcription	Duodenum Mucosa	Duodenum
21	chr2:233789600-233790200	Weak transcription	Brain Angular Gyrus	brain

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