Variant report

Variant	rs7944333
Chromosome Location	chr11:74022429-74022430
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PPME1-1	chr11:74022407-74022494	ENSG00000246211

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs1044782	0.80[ASN][1000 genomes]
rs1053021	0.80[ASN][1000 genomes]
rs10736795	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10793072	0.80[ASN][1000 genomes]
rs10793073	0.80[ASN][1000 genomes]
rs10793074	0.80[ASN][1000 genomes]
rs10793075	0.80[ASN][1000 genomes]
rs10793080	0.88[AMR][1000 genomes]
rs11236061	0.80[ASN][1000 genomes]
rs12146503	0.94[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1279116	0.83[EUR][1000 genomes]
rs1941820	0.83[EUR][1000 genomes]
rs3168173	0.87[ASN][1000 genomes]
rs3741130	0.80[ASN][1000 genomes]
rs3862799	0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3867268	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3867270	0.80[ASN][1000 genomes]
rs479968	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs486758	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4944041	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4944887	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs500398	0.83[EUR][1000 genomes]
rs519083	0.80[ASN][1000 genomes]
rs538103	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs542628	0.82[EUR][1000 genomes]
rs562488	0.83[EUR][1000 genomes]
rs563626	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58950228	0.81[ASN][1000 genomes]
rs592644	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs595798	0.80[ASN][1000 genomes]
rs596976	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs598869	0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs623065	0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs625632	0.80[ASN][1000 genomes]
rs637921	0.80[ASN][1000 genomes]
rs641271	0.80[ASN][1000 genomes]
rs655719	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs662393	0.88[AMR][1000 genomes]
rs7120394	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7926851	0.80[ASN][1000 genomes]
rs7928036	0.80[ASN][1000 genomes]
rs7930193	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7934621	0.88[AMR][1000 genomes]
rs7941916	0.80[ASN][1000 genomes]
rs7947911	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[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	esv2757451	chr11:73842609-74545888	Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	esv2759837	chr11:73842609-74557597	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	esv34979	chr11:73878688-74533452	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	esv2758277	chr11:73887567-74557597	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv825994	chr11:73936667-74534455	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
6	esv3442682	chr11:74019804-74024402	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74021600-74023000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr11:74021800-74023000	Active TSS	HSMM	muscle
3	chr11:74021800-74023200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr11:74021800-74023200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:74022000-74022600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
6	chr11:74022000-74022600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:74022000-74022600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:74022000-74022600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
9	chr11:74022000-74022600	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
10	chr11:74022000-74022800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr11:74022000-74022800	Bivalent Enhancer	Fetal Brain Male	brain
12	chr11:74022000-74022800	Enhancers	Fetal Heart	heart
13	chr11:74022000-74022800	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
14	chr11:74022000-74023000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:74022000-74023000	Active TSS	Cortex derived primary cultured neurospheres	brain
16	chr11:74022000-74023000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:74022000-74023200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
18	chr11:74022000-74023200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
19	chr11:74022200-74022600	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr11:74022200-74022600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:74022200-74022600	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr11:74022200-74022600	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
23	chr11:74022200-74022600	Flanking Bivalent TSS/Enh	Primary T helper 17 cells PMA-I stimulated	--
24	chr11:74022200-74022600	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
25	chr11:74022200-74022600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:74022200-74022600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr11:74022200-74022600	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:74022200-74022600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr11:74022200-74022600	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:74022200-74022600	Flanking Bivalent TSS/Enh	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:74022200-74022600	Flanking Active TSS	Liver	Liver
32	chr11:74022200-74022600	Bivalent Enhancer	Brain Angular Gyrus	brain
33	chr11:74022200-74022600	Flanking Bivalent TSS/Enh	Brain Anterior Caudate	brain
34	chr11:74022200-74022600	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
35	chr11:74022200-74022600	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
36	chr11:74022200-74022600	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
37	chr11:74022200-74022600	Bivalent/Poised TSS	Fetal Kidney	kidney
38	chr11:74022200-74022600	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
39	chr11:74022200-74022600	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
40	chr11:74022200-74022600	Flanking Active TSS	Left Ventricle	heart
41	chr11:74022200-74022600	Flanking Active TSS	Pancreas	Pancrea
42	chr11:74022200-74022600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
43	chr11:74022200-74022600	Flanking Active TSS	Psoas Muscle	Psoas
44	chr11:74022200-74022600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
45	chr11:74022200-74022800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
46	chr11:74022200-74022800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
47	chr11:74022200-74022800	Bivalent/Poised TSS	Fetal Brain Female	brain
48	chr11:74022200-74022800	Active TSS	HSMMtube	muscle
49	chr11:74022200-74022800	Active TSS	NHLF	lung
50	chr11:74022200-74023000	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

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