Variant report

Variant	rs4669646
Chromosome Location	chr2:11061715-11061716
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11886386	0.82[EUR][1000 genomes]
rs11901805	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12617163	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12623956	0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs1453083	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs2123483	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs55719825	0.89[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs59786077	0.94[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs60600332	0.90[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs61193809	0.94[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs72643459	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7578164	0.82[EUR][1000 genomes]
rs7603978	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv580969	chr2:11033567-11081645	Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
2	nsv521177	chr2:11040146-11066699	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
3	nsv833392	chr2:11054580-11235239	Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv817618	chr2:11055298-11075754	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	nsv469438	chr2:11055298-11085744	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	nsv580970	chr2:11055298-11085744	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
7	nsv523537	chr2:11061156-11075317	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11054200-11063600	Enhancers	Fetal Thymus	thymus
2	chr2:11054400-11072400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr2:11055200-11069800	Weak transcription	A549	lung
4	chr2:11057000-11069400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:11057600-11070600	Weak transcription	Fetal Brain Female	brain
6	chr2:11058600-11063000	Enhancers	Fetal Brain Male	brain
7	chr2:11059000-11062800	Enhancers	Thymus	Thymus
8	chr2:11059800-11064200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr2:11059800-11064400	Weak transcription	NHLF	lung
10	chr2:11059800-11067600	Weak transcription	Right Atrium	heart
11	chr2:11060000-11061800	Strong transcription	Cortex derived primary cultured neurospheres	brain
12	chr2:11060200-11062400	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr2:11060400-11062400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:11060600-11061800	Weak transcription	Brain Anterior Caudate	brain
15	chr2:11060600-11066400	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:11060800-11061800	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
17	chr2:11060800-11062400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:11060800-11062400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:11061600-11063400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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

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