Variant report

Variant	rs516105
Chromosome Location	chr12:121197458-121197459
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ACADS-1	chr12:121197146-121197844	expReg_chr12_11530_+

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1168937	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1718212	1.00[MEX][hapmap]
rs2650007	1.00[ASW][hapmap];1.00[MEX][hapmap];0.93[YRI][hapmap]
rs519510	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs526345	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs534803	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs580076	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs589667	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs591845	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs617540	1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs618547	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs619074	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs628114	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs662690	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs693018	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs790676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs811005	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1041153	chr12:121171986-121208826	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv560438	chr12:121194565-121352206	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121177800-121197800	Weak transcription	Gastric	stomach
2	chr12:121183200-121197600	Weak transcription	Esophagus	oesophagus
3	chr12:121186400-121198400	Weak transcription	Right Ventricle	heart
4	chr12:121190400-121197800	Weak transcription	Right Atrium	heart
5	chr12:121193000-121198400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:121193800-121197600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr12:121193800-121198200	Weak transcription	Primary B cells from peripheral blood	blood
8	chr12:121194000-121197600	Weak transcription	GM12878-XiMat	blood
9	chr12:121194000-121200800	Weak transcription	HepG2	liver
10	chr12:121194200-121197600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr12:121194200-121197600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr12:121194200-121197800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr12:121194200-121197800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr12:121194200-121202200	Weak transcription	K562	blood
15	chr12:121194800-121197600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:121194800-121198200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr12:121194800-121198800	Weak transcription	A549	lung
18	chr12:121195000-121197600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:121195000-121197800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr12:121195000-121197800	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr12:121195000-121201200	Weak transcription	Small Intestine	intestine
22	chr12:121195200-121197600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr12:121195200-121197800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr12:121195200-121197800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr12:121195200-121197800	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr12:121195200-121200000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr12:121195400-121197800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:121195400-121198000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr12:121195400-121198400	Weak transcription	Dnd41	blood
30	chr12:121195400-121198800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:121195600-121197800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr12:121195600-121198400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr12:121195600-121198600	Weak transcription	Colonic Mucosa	Colon
34	chr12:121195600-121198800	Weak transcription	NHLF	lung
35	chr12:121195600-121199200	Weak transcription	NHDF-Ad	bronchial
36	chr12:121195600-121204200	Weak transcription	Stomach Mucosa	stomach
37	chr12:121195600-121207200	Strong transcription	Brain Germinal Matrix	brain
38	chr12:121195800-121197800	Weak transcription	Lung	lung
39	chr12:121196000-121197800	Weak transcription	Liver	Liver
40	chr12:121196000-121197800	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:121196000-121198400	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr12:121196000-121198600	Weak transcription	Brain Angular Gyrus	brain
43	chr12:121196000-121201000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr12:121196200-121197600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr12:121196200-121198000	Weak transcription	Adipose Nuclei	Adipose
46	chr12:121196200-121199200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:121196200-121199400	Weak transcription	Aorta	Aorta
48	chr12:121196200-121201000	Weak transcription	Primary hematopoietic stem cells	blood
49	chr12:121196200-121201000	Weak transcription	Osteobl	bone
50	chr12:121196400-121198600	Weak transcription	Colon Smooth Muscle	Colon

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