Variant report

Variant	rs2510078
Chromosome Location	chr11:65332273-65332274
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:65195229..65198024-chr11:65329506..65332495,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10896015	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1151496	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1194076	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1194077	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1194104	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12270054	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67924081	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897715	chr11:65083491-65427346	Enhancers Genic enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
2	nsv897716	chr11:65083491-65481166	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	999 gene(s)	inside rSNPs	diseases
3	esv1829999	chr11:65136686-65343124	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	963 gene(s)	inside rSNPs	diseases
4	nsv897718	chr11:65140209-65577516	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1003 gene(s)	inside rSNPs	diseases
5	nsv541069	chr11:65142779-65368787	Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	965 gene(s)	inside rSNPs	diseases
6	nsv541070	chr11:65142779-65397058	Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	972 gene(s)	inside rSNPs	diseases
7	nsv541071	chr11:65142779-65429352	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	984 gene(s)	inside rSNPs	diseases
8	nsv897719	chr11:65157094-65335705	Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
9	nsv541074	chr11:65171202-65368787	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	961 gene(s)	inside rSNPs	diseases
10	nsv541076	chr11:65210592-65397058	Flanking Active TSS Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	645 gene(s)	inside rSNPs	diseases
11	nsv897720	chr11:65213434-65445950	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	665 gene(s)	inside rSNPs	diseases
12	nsv897721	chr11:65278461-65422853	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
13	nsv897722	chr11:65278461-65436888	Genic enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
14	nsv897723	chr11:65294830-65481166	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
15	nsv897730	chr11:65302893-65376484	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2510078	NEAT1	cis	Nerve Tibial	GTEx

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65326600-65332400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr11:65326800-65334200	Weak transcription	Small Intestine	intestine
3	chr11:65326800-65336800	Weak transcription	Aorta	Aorta
4	chr11:65327200-65332400	Weak transcription	Primary B cells from peripheral blood	blood
5	chr11:65328000-65332400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr11:65328400-65332800	Weak transcription	Spleen	Spleen
7	chr11:65328400-65333200	Weak transcription	Pancreas	Pancrea
8	chr11:65328400-65333200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr11:65328600-65336400	Weak transcription	Fetal Brain Female	brain
10	chr11:65328600-65336400	Weak transcription	Gastric	stomach
11	chr11:65328800-65332600	Weak transcription	Hela-S3	cervix
12	chr11:65328800-65332800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr11:65328800-65333000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr11:65328800-65333000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr11:65328800-65333200	Weak transcription	Duodenum Mucosa	Duodenum
16	chr11:65328800-65333600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr11:65328800-65333800	Weak transcription	Esophagus	oesophagus
18	chr11:65328800-65334000	Weak transcription	Fetal Intestine Large	intestine
19	chr11:65328800-65334200	Weak transcription	Brain Angular Gyrus	brain
20	chr11:65328800-65334400	Weak transcription	Brain Substantia Nigra	brain
21	chr11:65328800-65335600	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:65328800-65335800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:65328800-65336000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr11:65328800-65336200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr11:65328800-65336200	Weak transcription	Fetal Brain Male	brain
26	chr11:65328800-65336200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr11:65328800-65336200	Weak transcription	Right Atrium	heart
28	chr11:65328800-65336400	Weak transcription	Left Ventricle	heart
29	chr11:65329000-65332400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr11:65329000-65332400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr11:65329000-65332400	Weak transcription	Thymus	Thymus
32	chr11:65329000-65333000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr11:65329000-65333000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr11:65329000-65333000	Weak transcription	NHEK	skin
35	chr11:65329000-65333200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr11:65329000-65333200	Weak transcription	Colonic Mucosa	Colon
37	chr11:65329000-65333200	Weak transcription	Fetal Stomach	stomach
38	chr11:65329000-65333200	Weak transcription	NHLF	lung
39	chr11:65329000-65333400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr11:65329000-65333600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr11:65329000-65333800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr11:65329000-65333800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr11:65329000-65333800	Weak transcription	Fetal Intestine Small	intestine
44	chr11:65329000-65334000	Weak transcription	Brain Hippocampus Middle	brain
45	chr11:65329000-65334200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr11:65329000-65334200	Weak transcription	Brain Anterior Caudate	brain
47	chr11:65329000-65334200	Weak transcription	Lung	lung
48	chr11:65329000-65334200	Weak transcription	Rectal Smooth Muscle	rectum
49	chr11:65329000-65334200	Weak transcription	Stomach Smooth Muscle	stomach
50	chr11:65329000-65334400	Weak transcription	Colon Smooth Muscle	Colon

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