Variant report

Variant	rs560646
Chromosome Location	chr11:104729629-104729630
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12280514	1.00[AMR][1000 genomes]
rs3888096	1.00[AMR][1000 genomes]
rs45594931	1.00[AMR][1000 genomes]
rs481367	1.00[AMR][1000 genomes]
rs496540	1.00[AMR][1000 genomes]
rs521752	1.00[AMR][1000 genomes]
rs533867	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs547913	1.00[AMR][1000 genomes]
rs552761	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56116531	1.00[AMR][1000 genomes]
rs578500	1.00[AMR][1000 genomes]
rs594572	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs644121	1.00[AMR][1000 genomes]
rs644963	1.00[AMR][1000 genomes]
rs890449	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046098	chr11:104207210-105003661	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1054456	chr11:104358924-104805251	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv531430	chr11:104380924-105194452	Genic enhancers Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv826072	chr11:104662708-104768357	Flanking Active TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv832255	chr11:104674918-104846961	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	esv33953	chr11:104709950-104737532	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases
7	esv2757474	chr11:104719593-104798545	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2759862	chr11:104719593-104798545	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv8869	chr11:104724605-104760037	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	esv3465886	chr11:104724810-104759731	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv3465897	chr11:104724823-104759731	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
12	esv3465908	chr11:104724823-104759731	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
13	esv3693098	chr11:104728524-104759546	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:104715600-104730000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:104728000-104731000	Enhancers	Dnd41	blood
3	chr11:104728200-104729800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr11:104728200-104730200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:104728400-104729800	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr11:104728400-104729800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:104728600-104730000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr11:104728600-104730200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:104728800-104729800	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr11:104728800-104730600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr11:104729000-104730200	Enhancers	Primary B cells from cord blood	blood
12	chr11:104729000-104730400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr11:104729000-104730600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:104729000-104730800	Enhancers	Primary B cells from peripheral blood	blood
15	chr11:104729200-104730200	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr11:104729400-104730400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
17	chr11:104729400-104730400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr11:104729400-104730600	Enhancers	Primary T cells from cord blood	blood

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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