Variant report

Variant	rs422411
Chromosome Location	chr2:40415340-40415341
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:68)

rs_ID	r²[population]
rs105288	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs118899	0.87[ASN][1000 genomes]
rs1641452	0.81[ASN][1000 genomes]
rs1641456	0.95[ASN][1000 genomes]
rs1641457	0.95[ASN][1000 genomes]
rs1641458	0.95[ASN][1000 genomes]
rs1651355	0.95[ASN][1000 genomes]
rs28628343	0.84[ASN][1000 genomes]
rs35487690	0.81[ASN][1000 genomes]
rs368642	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs369140	0.95[ASN][1000 genomes]
rs372052	0.95[ASN][1000 genomes]
rs373602	0.90[ASN][1000 genomes]
rs373606	0.82[ASN][1000 genomes]
rs374159	0.81[ASN][1000 genomes]
rs374711	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs375180	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs376170	0.95[ASN][1000 genomes]
rs376491	0.87[ASN][1000 genomes]
rs379410	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs380975	0.95[ASN][1000 genomes]
rs384511	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs384791	0.95[ASN][1000 genomes]
rs384994	0.81[ASN][1000 genomes]
rs385561	0.95[ASN][1000 genomes]
rs389109	0.95[ASN][1000 genomes]
rs391631	0.92[ASN][1000 genomes]
rs393711	0.95[ASN][1000 genomes]
rs399061	0.84[ASN][1000 genomes]
rs402307	0.81[ASN][1000 genomes]
rs406736	0.81[ASN][1000 genomes]
rs406880	0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs407267	0.81[ASN][1000 genomes]
rs407889	0.81[ASN][1000 genomes]
rs408009	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs408662	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs410031	0.99[ASN][1000 genomes]
rs410480	0.93[ASN][1000 genomes]
rs413711	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs414766	0.99[ASN][1000 genomes]
rs417591	0.88[ASN][1000 genomes]
rs417873	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs418380	0.95[ASN][1000 genomes]
rs418780	0.87[ASN][1000 genomes]
rs421870	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs423075	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs426295	0.95[ASN][1000 genomes]
rs427632	0.81[ASN][1000 genomes]
rs429227	0.81[ASN][1000 genomes]
rs430314	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs430473	0.92[ASN][1000 genomes]
rs432142	0.84[ASN][1000 genomes]
rs432981	0.81[ASN][1000 genomes]
rs434326	0.95[ASN][1000 genomes]
rs439960	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs441196	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs441413	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs441593	0.85[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs441802	0.92[ASN][1000 genomes]
rs442476	0.81[ASN][1000 genomes]
rs444504	0.84[ASN][1000 genomes]
rs450116	0.93[ASN][1000 genomes]
rs451074	0.81[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs452138	0.81[ASN][1000 genomes]
rs581477	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs581568	0.93[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs679339	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs688673	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873902	chr2:40231282-40466268	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
3	nsv1004092	chr2:40264608-40451701	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv1000572	chr2:40271958-40458911	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv535654	chr2:40271958-40458911	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv581502	chr2:40273903-40459645	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
7	nsv873904	chr2:40292289-40466268	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv873910	chr2:40391907-40466268	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	esv1851152	chr2:40393223-40512023	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:15 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40393000-40420000	Weak transcription	Fetal Kidney	kidney
2	chr2:40393600-40416800	Weak transcription	Fetal Stomach	stomach
3	chr2:40400600-40426800	Weak transcription	Osteobl	bone
4	chr2:40405400-40430000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr2:40405600-40421800	Weak transcription	Right Ventricle	heart
6	chr2:40406400-40416600	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:40406600-40416800	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr2:40407200-40419800	Weak transcription	HSMM	muscle
9	chr2:40411000-40424200	Weak transcription	HSMMtube	muscle
10	chr2:40412000-40421800	Weak transcription	Left Ventricle	heart
11	chr2:40412200-40415400	Weak transcription	Fetal Heart	heart
12	chr2:40413400-40417800	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr2:40413400-40418000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:40414800-40417400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr2:40415200-40416000	Enhancers	Rectal Smooth Muscle	rectum

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