Variant report

Variant	rs2658558
Chromosome Location	chr11:18498487-18498488
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs12790143	1.00[ASN][1000 genomes]
rs16935609	0.83[ASN][1000 genomes]
rs2121385	1.00[ASN][1000 genomes]
rs34242612	1.00[ASN][1000 genomes]
rs56811637	1.00[ASN][1000 genomes]
rs58804032	0.83[ASN][1000 genomes]
rs58988307	0.83[ASN][1000 genomes]
rs61208217	1.00[ASN][1000 genomes]
rs61424905	0.83[ASN][1000 genomes]
rs61752314	1.00[ASN][1000 genomes]
rs7106180	1.00[ASN][1000 genomes]
rs7110470	0.83[ASN][1000 genomes]
rs73422545	1.00[ASN][1000 genomes]
rs73422599	1.00[ASN][1000 genomes]
rs73422601	1.00[ASN][1000 genomes]
rs73424410	1.00[ASN][1000 genomes]
rs73424413	1.00[ASN][1000 genomes]
rs73424436	0.83[ASN][1000 genomes]
rs73424437	0.83[ASN][1000 genomes]
rs73424439	0.83[ASN][1000 genomes]
rs73424445	0.83[ASN][1000 genomes]
rs73424447	0.83[ASN][1000 genomes]
rs73424452	0.83[ASN][1000 genomes]
rs73424463	0.83[ASN][1000 genomes]
rs73424468	0.83[ASN][1000 genomes]
rs73424475	0.83[ASN][1000 genomes]
rs7926511	1.00[ASN][1000 genomes]
rs7936497	0.83[ASN][1000 genomes]
rs7938645	0.83[ASN][1000 genomes]
rs7942526	0.83[ASN][1000 genomes]
rs7951729	0.83[ASN][1000 genomes]
rs872872	0.83[ASN][1000 genomes]
rs872873	0.83[ASN][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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18480000-18499400	Weak transcription	HSMMtube	muscle
2	chr11:18483600-18526200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:18488400-18501200	Weak transcription	Esophagus	oesophagus
4	chr11:18488400-18501400	Weak transcription	HepG2	liver
5	chr11:18489800-18500600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr11:18490400-18500000	Weak transcription	HUVEC	blood vessel
7	chr11:18491000-18499200	Weak transcription	GM12878-XiMat	blood
8	chr11:18492800-18501200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr11:18493200-18498600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr11:18493200-18500600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:18493400-18499200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr11:18493600-18498800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:18493600-18500600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:18493600-18500800	Weak transcription	Brain Anterior Caudate	brain
15	chr11:18493600-18501400	Weak transcription	Colonic Mucosa	Colon
16	chr11:18493800-18499600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr11:18493800-18500000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr11:18493800-18502200	Weak transcription	Fetal Brain Male	brain
19	chr11:18494000-18502000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr11:18494400-18508000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr11:18494600-18502000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr11:18494800-18507600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr11:18495000-18505800	Strong transcription	Thymus	Thymus
24	chr11:18495200-18498600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr11:18495200-18499000	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr11:18495200-18502200	Weak transcription	Pancreas	Pancrea
27	chr11:18495400-18499600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:18495400-18500600	Weak transcription	NHDF-Ad	bronchial
29	chr11:18495600-18499600	Weak transcription	HMEC	breast
30	chr11:18495600-18499600	Weak transcription	NHEK	skin
31	chr11:18495600-18501400	Weak transcription	NHLF	lung
32	chr11:18496000-18508200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr11:18496000-18515200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr11:18496200-18503600	Weak transcription	Hela-S3	cervix
35	chr11:18496200-18508000	Strong transcription	Fetal Intestine Large	intestine
36	chr11:18496200-18508000	Strong transcription	Fetal Thymus	thymus
37	chr11:18496200-18508000	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr11:18496200-18508200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:18496200-18513200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr11:18496200-18513400	Strong transcription	Fetal Muscle Leg	muscle
41	chr11:18496200-18538000	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr11:18496200-18541200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr11:18496400-18498600	Strong transcription	Placenta Amnion	Placenta Amnion
44	chr11:18496400-18501600	Weak transcription	Small Intestine	intestine
45	chr11:18496400-18506000	Strong transcription	Osteobl	bone
46	chr11:18496400-18506600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:18496400-18507800	Strong transcription	Dnd41	blood
48	chr11:18496400-18508200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr11:18496400-18508200	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr11:18496400-18508200	Strong transcription	Primary T helper cells fromperipheralblood	blood

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