Variant report

Variant	rs34242612
Chromosome Location	chr11:18568542-18568543
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 39 )
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	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2658558	1.00[ASN][1000 genomes]
rs56811637	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58804032	0.83[ASN][1000 genomes]
rs58988307	0.83[ASN][1000 genomes]
rs61208217	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61424905	0.83[ASN][1000 genomes]
rs61752314	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7106180	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7110470	0.83[ASN][1000 genomes]
rs73422545	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73422599	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73422601	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424410	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73424413	0.92[EUR][1000 genomes];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	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];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:6 , 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	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
4	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
5	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
6	nsv975324	chr11:18563800-18581423	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18549000-18576400	Weak transcription	Gastric	stomach
2	chr11:18549000-18577000	Weak transcription	Spleen	Spleen
3	chr11:18549200-18577000	Weak transcription	Esophagus	oesophagus
4	chr11:18549200-18583400	Weak transcription	Small Intestine	intestine
5	chr11:18549200-18591400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:18549400-18576000	Weak transcription	Ovary	ovary
7	chr11:18549400-18576400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr11:18549400-18577000	Weak transcription	Colonic Mucosa	Colon
9	chr11:18549400-18579200	Weak transcription	Pancreas	Pancrea
10	chr11:18549400-18583400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:18549400-18594400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr11:18549600-18575000	Weak transcription	Fetal Brain Female	brain
13	chr11:18549600-18575200	Weak transcription	Fetal Kidney	kidney
14	chr11:18549600-18576400	Weak transcription	Brain Substantia Nigra	brain
15	chr11:18549600-18576600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr11:18549600-18576800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr11:18549600-18577200	Weak transcription	Primary hematopoietic stem cells	blood
18	chr11:18549600-18577800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr11:18549600-18608600	Weak transcription	Fetal Heart	heart
20	chr11:18549600-18609000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr11:18549600-18609000	Weak transcription	Fetal Brain Male	brain
22	chr11:18549800-18575000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr11:18549800-18576200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr11:18549800-18576400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:18549800-18577000	Weak transcription	Primary T cells from cord blood	blood
26	chr11:18549800-18582400	Weak transcription	Rectal Smooth Muscle	rectum
27	chr11:18549800-18588200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr11:18549800-18592000	Weak transcription	NHLF	lung
29	chr11:18549800-18594400	Weak transcription	K562	blood
30	chr11:18549800-18600600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr11:18550400-18575200	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr11:18550600-18591400	Weak transcription	Dnd41	blood
33	chr11:18552600-18601400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr11:18554000-18576000	Weak transcription	Brain Angular Gyrus	brain
35	chr11:18555800-18576400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:18555800-18582800	Weak transcription	NHEK	skin
37	chr11:18557800-18576600	Weak transcription	Psoas Muscle	Psoas
38	chr11:18558400-18576200	Weak transcription	Brain Hippocampus Middle	brain
39	chr11:18558400-18592200	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr11:18559200-18592800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr11:18560600-18576200	Weak transcription	Brain Anterior Caudate	brain
42	chr11:18561200-18569000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr11:18561800-18571800	Weak transcription	HSMMtube	muscle
44	chr11:18562200-18598200	Weak transcription	Stomach Mucosa	stomach
45	chr11:18562400-18573600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr11:18562600-18573400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:18563000-18570800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr11:18563200-18568800	Strong transcription	Fetal Intestine Large	intestine
49	chr11:18563200-18601200	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr11:18563400-18572600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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