Variant report

Variant	rs4912291
Chromosome Location	chr1:56941387-56941388
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	chr1:56941233..56944264-chr1:57041554..57045074,3	MCF-7	breast:
2	chr1:56935156..56937645-chr1:56940992..56943740,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10789022	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10789023	0.95[ASN][1000 genomes]
rs10789024	0.93[ASN][1000 genomes]
rs10888975	0.87[ASN][1000 genomes]
rs11206810	0.80[ASN][1000 genomes]
rs11206816	0.97[ASN][1000 genomes]
rs11206817	0.97[ASN][1000 genomes]
rs11206818	0.97[ASN][1000 genomes]
rs11206823	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11206825	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11589246	0.88[ASN][1000 genomes]
rs12138516	0.86[ASN][1000 genomes]
rs12739002	0.86[ASN][1000 genomes]
rs1930761	0.90[ASN][1000 genomes]
rs2210617	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2896948	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs36018890	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4128921	0.86[ASN][1000 genomes]
rs4244013	0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6588636	0.82[EUR][1000 genomes]
rs6682210	0.86[ASN][1000 genomes]
rs6684123	0.83[ASN][1000 genomes]
rs6690687	0.86[ASN][1000 genomes]
rs7418187	0.86[ASN][1000 genomes]
rs7525717	0.94[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869295	chr1:56894955-57656562	Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4912291	ACOT11	cis	cerebellum	SCAN

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:56905400-56942600	Weak transcription	Gastric	stomach
2	chr1:56913800-56943200	Weak transcription	Aorta	Aorta
3	chr1:56924200-56942800	Weak transcription	Right Ventricle	heart
4	chr1:56929400-56942400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:56932000-56943000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:56934400-56942400	Weak transcription	Fetal Muscle Trunk	muscle
7	chr1:56934400-56942600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:56934600-56942600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr1:56934800-56943000	Weak transcription	Psoas Muscle	Psoas
10	chr1:56935200-56942400	Weak transcription	Fetal Muscle Leg	muscle
11	chr1:56936000-56942600	Weak transcription	Osteobl	bone
12	chr1:56936400-56942600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr1:56936600-56942600	Weak transcription	Fetal Kidney	kidney
14	chr1:56938600-56942600	Weak transcription	Placenta	Placenta
15	chr1:56939000-56942600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr1:56939600-56942800	Weak transcription	Fetal Brain Female	brain
17	chr1:56939600-56942800	Weak transcription	NH-A	brain
18	chr1:56939800-56941600	Weak transcription	Stomach Mucosa	stomach
19	chr1:56939800-56942600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr1:56939800-56942600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr1:56939800-56942600	Weak transcription	Adipose Nuclei	Adipose
22	chr1:56939800-56942600	Weak transcription	Esophagus	oesophagus
23	chr1:56939800-56942600	Weak transcription	Fetal Lung	lung
24	chr1:56939800-56942600	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:56939800-56942600	Weak transcription	Spleen	Spleen
26	chr1:56939800-56942800	Weak transcription	Brain Germinal Matrix	brain
27	chr1:56940000-56941800	Weak transcription	Lung	lung
28	chr1:56940000-56942600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr1:56940000-56942600	Weak transcription	Brain Anterior Caudate	brain
30	chr1:56940000-56942600	Weak transcription	Colon Smooth Muscle	Colon
31	chr1:56940000-56942600	Weak transcription	Fetal Stomach	stomach
32	chr1:56940000-56942600	Weak transcription	Pancreas	Pancrea
33	chr1:56940000-56942600	Weak transcription	Right Atrium	heart
34	chr1:56940000-56942600	Weak transcription	NHLF	lung
35	chr1:56940000-56942800	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr1:56940200-56942400	Weak transcription	Liver	Liver
37	chr1:56940200-56942600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:56940200-56942600	Weak transcription	Brain Hippocampus Middle	brain
39	chr1:56940200-56942600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr1:56940200-56942600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr1:56940200-56942600	Weak transcription	Left Ventricle	heart
42	chr1:56940200-56942600	Weak transcription	NHDF-Ad	bronchial
43	chr1:56940200-56942800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr1:56940200-56942800	Weak transcription	Brain Angular Gyrus	brain
45	chr1:56940200-56942800	Weak transcription	Fetal Heart	heart
46	chr1:56940400-56942600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:56941000-56941600	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr1:56941000-56942600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr1:56941000-56942600	Weak transcription	Brain Substantia Nigra	brain
50	chr1:56941200-56941400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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