Variant report

Variant	rs2698570
Chromosome Location	chr11:18488003-18488004
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1857908	1.00[AMR][1000 genomes]
rs2658555	1.00[AMR][1000 genomes]
rs2658556	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2658560	1.00[AMR][1000 genomes]
rs4150669	1.00[AMR][1000 genomes]
rs4635056	1.00[AMR][1000 genomes]
rs895531	1.00[AMR][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	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	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
3	nsv1047049	chr11:18359702-18520008	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv540955	chr11:18359702-18520008	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
5	nsv897027	chr11:18435700-18499416	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv1038015	chr11:18435855-18558211	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	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
8	nsv467719	chr11:18447611-18542227	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	nsv553634	chr11:18447611-18542227	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:21 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18477600-18498400	Weak transcription	Spleen	Spleen
2	chr11:18477800-18498000	Weak transcription	Fetal Brain Female	brain
3	chr11:18478200-18497600	Weak transcription	Right Ventricle	heart
4	chr11:18479800-18495000	Weak transcription	Pancreas	Pancrea
5	chr11:18479800-18495600	Weak transcription	Fetal Intestine Small	intestine
6	chr11:18479800-18496200	Weak transcription	Fetal Intestine Large	intestine
7	chr11:18480000-18499400	Weak transcription	HSMMtube	muscle
8	chr11:18480400-18494000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr11:18482600-18495000	Weak transcription	Thymus	Thymus
10	chr11:18483600-18498400	Weak transcription	Aorta	Aorta
11	chr11:18483600-18526200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr11:18484800-18494800	Weak transcription	Left Ventricle	heart
13	chr11:18485600-18490600	Weak transcription	GM12878-XiMat	blood
14	chr11:18485800-18497000	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr11:18485800-18498200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr11:18486200-18496600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr11:18486600-18496200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr11:18487600-18489000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr11:18487600-18497800	Weak transcription	Gastric	stomach
20	chr11:18488000-18488200	Enhancers	Ovary	ovary
21	chr11:18488000-18488400	Enhancers	HepG2	liver

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