Variant report

Variant	rs475967
Chromosome Location	chr11:65206917-65206918
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:65178877..65218546-chr11:65218612..65286191,1014	K562	blood:

Variant related genes	Relation type
ENSG00000173727	Chromatin interaction
ENSG00000270526	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000251562	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11602839	0.88[EUR][1000 genomes]
rs2073801	0.88[EUR][1000 genomes]
rs2904976	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs481335	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs508286	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs550015	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs550894	0.94[EUR][1000 genomes]
rs580933	0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61154080	0.86[EUR][1000 genomes]
rs666834	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs673753	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	esv2422285	chr11:65013294-65254540	Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong 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	474 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv541065	chr11:65117387-65271894	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	835 gene(s)	inside rSNPs	diseases
6	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
7	nsv897717	chr11:65140209-65278461	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	942 gene(s)	inside rSNPs	diseases
8	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
9	nsv541066	chr11:65142779-65271894	Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	833 gene(s)	inside rSNPs	diseases
10	nsv541067	chr11:65142779-65313799	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	950 gene(s)	inside rSNPs	diseases
11	nsv541068	chr11:65142779-65331136	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	953 gene(s)	inside rSNPs	diseases
12	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
13	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
14	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
15	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
16	nsv541072	chr11:65171202-65313799	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	946 gene(s)	inside rSNPs	diseases
17	nsv541073	chr11:65171202-65331136	Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	949 gene(s)	inside rSNPs	diseases
18	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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs475967	NEAT1	cis	Muscle Skeletal	GTEx
rs475967	NEAT1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65193800-65209800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:65197400-65207600	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr11:65197800-65209200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr11:65198000-65209400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:65198000-65216000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:65198200-65209400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr11:65198800-65209400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:65200200-65207000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr11:65200600-65211600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
10	chr11:65200600-65214200	Strong transcription	NH-A	brain
11	chr11:65201400-65207400	Genic enhancers	K562	blood
12	chr11:65201400-65209200	Strong transcription	Fetal Muscle Leg	muscle
13	chr11:65201600-65207400	Strong transcription	Fetal Thymus	thymus
14	chr11:65201600-65207600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr11:65201600-65208000	Strong transcription	Fetal Muscle Trunk	muscle
16	chr11:65201600-65208200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:65201600-65211600	Genic enhancers	Brain Substantia Nigra	brain
18	chr11:65201800-65208400	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr11:65202200-65208400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:65202600-65214400	Genic enhancers	A549	lung
21	chr11:65203200-65211600	Strong transcription	HUVEC	blood vessel
22	chr11:65203400-65207000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr11:65203400-65212200	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr11:65203600-65207000	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr11:65204200-65207200	Strong transcription	Colonic Mucosa	Colon
26	chr11:65204200-65207800	Strong transcription	Rectal Mucosa Donor 31	rectum
27	chr11:65204200-65209200	Weak transcription	Pancreas	Pancrea
28	chr11:65204400-65210600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
29	chr11:65204800-65207000	Genic enhancers	GM12878-XiMat	blood
30	chr11:65205000-65207400	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:65205200-65214400	Genic enhancers	Placenta	Placenta
32	chr11:65205400-65207000	Genic enhancers	Liver	Liver
33	chr11:65205400-65210600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr11:65205400-65211600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
35	chr11:65205400-65212400	Genic enhancers	Primary T cells fromperipheralblood	blood
36	chr11:65205600-65207000	Genic enhancers	Muscle Satellite Cultured Cells	--
37	chr11:65205600-65207000	Genic enhancers	Hela-S3	cervix
38	chr11:65205600-65207800	Genic enhancers	Adipose Nuclei	Adipose
39	chr11:65205600-65208400	Strong transcription	HSMM	muscle
40	chr11:65205600-65209200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr11:65205600-65209400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:65205600-65209400	Weak transcription	Gastric	stomach
43	chr11:65205600-65209600	Weak transcription	Small Intestine	intestine
44	chr11:65205600-65209800	Weak transcription	Dnd41	blood
45	chr11:65205600-65214800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:65205600-65217600	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr11:65205800-65207000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr11:65205800-65207400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr11:65205800-65207600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr11:65205800-65207800	Weak transcription	Fetal Stomach	stomach

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