Variant report

Variant	rs2121389
Chromosome Location	chr11:18693223-18693224
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11024755	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2028896	0.84[AFR][1000 genomes]
rs4757695	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58346558	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	nsv1042155	chr11:18435855-18697576	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 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	chr11:18687000-18719800	Weak transcription	Ovary	ovary
2	chr11:18689800-18696000	Enhancers	Primary T helper cells PMA-I stimulated	--
3	chr11:18690600-18693800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
4	chr11:18690800-18696000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
5	chr11:18691600-18697200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:18692200-18693800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr11:18692200-18695000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr11:18692200-18695200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:18692400-18695200	Enhancers	Primary T killer memory cells from peripheral blood	blood
10	chr11:18692600-18693400	Enhancers	NHEK	skin
11	chr11:18692600-18695200	Enhancers	Primary T helper naive cells from peripheral blood	blood
12	chr11:18692800-18693400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr11:18692800-18694600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr11:18692800-18694600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:18692800-18695000	Enhancers	Primary T cells fromperipheralblood	blood
16	chr11:18692800-18695600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr11:18693000-18698000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr11:18693200-18695000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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

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