Variant report

Variant	rs12721493
Chromosome Location	chr11:74988048-74988049
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	chr11:74983331..74988727-chr11:74991220..74996395,5	K562	blood:
2	chr11:74983321..74986512-chr11:74987879..74990018,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000137486	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs34931451	1.00[AMR][1000 genomes]
rs41429652	1.00[AMR][1000 genomes]
rs55977292	1.00[AMR][1000 genomes]
rs56709079	1.00[AMR][1000 genomes]
rs59496705	1.00[AMR][1000 genomes]
rs60313751	1.00[AMR][1000 genomes]
rs60585327	1.00[AMR][1000 genomes]
rs61324508	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049887	chr11:74937977-75040438	Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1036292	chr11:74937977-75059496	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
4	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
5	nsv522447	chr11:74982939-75068767	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	57 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12721493	LIPT2	cis	lymphoblastoid	seeQTL

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74970800-74988200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:74972400-75004400	Weak transcription	Fetal Brain Male	brain
3	chr11:74972800-74991400	Weak transcription	Right Atrium	heart
4	chr11:74975200-74988200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr11:74975200-74988400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr11:74975200-74991200	Strong transcription	Fetal Stomach	stomach
7	chr11:74975600-74988800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr11:74975600-74991400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
9	chr11:74975600-74999000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr11:74975800-74991200	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:74976200-74991800	Strong transcription	Lung	lung
12	chr11:74976400-74990200	Strong transcription	Fetal Muscle Trunk	muscle
13	chr11:74976600-74994200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:74977400-74990400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr11:74978400-74990400	Strong transcription	Stomach Smooth Muscle	stomach
16	chr11:74978600-74995000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:74979000-74994400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:74980000-74991200	Strong transcription	Fetal Muscle Leg	muscle
19	chr11:74982000-74988400	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr11:74982000-74989400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:74982000-74991000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:74982000-74991600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr11:74982200-74990200	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr11:74982200-74990600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr11:74982200-74991400	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr11:74982200-74991600	Strong transcription	Gastric	stomach
27	chr11:74983600-74990600	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr11:74983600-74996000	Weak transcription	Aorta	Aorta
29	chr11:74983800-74996400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr11:74984200-74989000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
31	chr11:74984600-74991200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
32	chr11:74985000-74990000	Weak transcription	Fetal Heart	heart
33	chr11:74985000-74991400	Weak transcription	NHLF	lung
34	chr11:74985200-74989000	Enhancers	Fetal Thymus	thymus
35	chr11:74985200-74991400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr11:74985400-74988400	Weak transcription	Ovary	ovary
37	chr11:74985400-74988600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr11:74985400-74994600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr11:74985400-74995600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr11:74985800-74988200	Enhancers	Thymus	Thymus
41	chr11:74986000-74988400	Genic enhancers	Primary monocytes fromperipheralblood	blood
42	chr11:74986400-74988200	Genic enhancers	Duodenum Mucosa	Duodenum
43	chr11:74986400-74990000	Strong transcription	Left Ventricle	heart
44	chr11:74986400-74991000	Strong transcription	Brain Inferior Temporal Lobe	brain
45	chr11:74986600-74990200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr11:74986600-74991200	Strong transcription	Brain Anterior Caudate	brain
47	chr11:74986600-74991600	Strong transcription	HepG2	liver
48	chr11:74986800-74988200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr11:74986800-74988600	Weak transcription	HSMM	muscle
50	chr11:74986800-74991200	Strong transcription	Brain Hippocampus Middle	brain

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