Variant report

Variant	rs9954492
Chromosome Location	chr18:11511670-11511671
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12456517	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1940932	1.00[EUR][1000 genomes]
rs1940933	1.00[EUR][1000 genomes]
rs4393639	1.00[EUR][1000 genomes]
rs57621243	1.00[EUR][1000 genomes]
rs60383364	1.00[EUR][1000 genomes]
rs60534269	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8091070	1.00[EUR][1000 genomes]
rs994222	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9955589	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9959535	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458029	chr18:10814334-11662151	Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv576480	chr18:10814334-11662151	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
3	nsv1066659	chr18:11246502-11709409	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	nsv1057976	chr18:11251898-11664914	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
5	nsv543650	chr18:11251898-11664914	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
6	nsv1056541	chr18:11336695-11558542	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv543651	chr18:11336695-11558542	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv458031	chr18:11362587-11557161	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv576482	chr18:11362587-11557161	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv909381	chr18:11431945-11609487	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv2204	chr18:11499825-11544209	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
12	esv3490454	chr18:11506766-11511945	Enhancers Weak transcription Flanking Active TSS	lncRNA	2 gene(s)	inside rSNPs	diseases
13	esv3490455	chr18:11506766-11511945	Enhancers Weak transcription Flanking Active TSS	lncRNA	2 gene(s)	inside rSNPs	diseases
14	esv3316259	chr18:11507952-11513250	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases
15	esv3402922	chr18:11508552-11512400	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
16	esv3316257	chr18:11508777-11512325	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	inside rSNPs	diseases
17	esv3427120	chr18:11509002-11512300	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
18	esv2586381	chr18:11509257-11512103	Enhancers Flanking Active TSS Weak transcription	n/a	n/a	inside rSNPs	diseases
19	esv3316260	chr18:11509283-11511868	Weak transcription Flanking Active TSS Enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:7 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11502600-11513200	Weak transcription	NHDF-Ad	bronchial
2	chr18:11507000-11511800	Weak transcription	Thymus	Thymus
3	chr18:11507400-11512000	Weak transcription	Hela-S3	cervix
4	chr18:11509000-11511800	Enhancers	Dnd41	blood
5	chr18:11509800-11511800	Enhancers	Fetal Thymus	thymus
6	chr18:11511400-11512000	Enhancers	Primary T cells from cord blood	blood
7	chr18:11511600-11512600	Flanking Active TSS	GM12878-XiMat	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
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chromosomal regions: chr1:12345-34567

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