Variant report

Variant	rs391059
Chromosome Location	chr15:93210294-93210295
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	chr15:93208505..93210593-chr15:93213536..93216229,2	K562	blood:
2	chr15:93146697..93148727-chr15:93208767..93210664,2	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11857315	0.95[EUR][1000 genomes]
rs12907094	0.95[EUR][1000 genomes]
rs12910861	0.81[EUR][1000 genomes]
rs172263	0.96[EUR][1000 genomes]
rs172264	0.89[EUR][1000 genomes]
rs285746	0.92[EUR][1000 genomes]
rs285747	0.90[EUR][1000 genomes]
rs374653	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs376138	1.00[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs380184	0.96[EUR][1000 genomes]
rs389334	0.95[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs401072	0.96[EUR][1000 genomes]
rs413646	0.95[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs438230	0.82[AFR][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	nsv1037972	chr15:92804908-93270761	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
2	nsv904499	chr15:92914795-93472582	Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	163 gene(s)	inside rSNPs	diseases
3	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
5	nsv1040501	chr15:93177153-93286393	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs391059	LOC400451	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93204000-93210600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr15:93207200-93211800	Enhancers	Fetal Muscle Trunk	muscle
3	chr15:93207200-93213000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:93207600-93211200	Enhancers	Pancreas	Pancrea
5	chr15:93207600-93211800	Enhancers	Fetal Muscle Leg	muscle
6	chr15:93207800-93211800	Enhancers	Liver	Liver
7	chr15:93207800-93211800	Enhancers	Fetal Stomach	stomach
8	chr15:93208200-93211800	Enhancers	Fetal Heart	heart
9	chr15:93208200-93212000	Enhancers	Fetal Intestine Small	intestine
10	chr15:93208400-93210400	Weak transcription	HUVEC	blood vessel
11	chr15:93208400-93210800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr15:93208400-93212000	Enhancers	Fetal Kidney	kidney
13	chr15:93208600-93210400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr15:93208600-93210600	Weak transcription	HSMM	muscle
15	chr15:93208800-93210400	Enhancers	Rectal Smooth Muscle	rectum
16	chr15:93208800-93210600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr15:93208800-93211000	Enhancers	Adipose Nuclei	Adipose
18	chr15:93208800-93211600	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr15:93209000-93210400	Weak transcription	HSMMtube	muscle
20	chr15:93209000-93210600	Enhancers	Colon Smooth Muscle	Colon
21	chr15:93209000-93210600	Enhancers	Fetal Lung	lung
22	chr15:93209000-93210800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr15:93209000-93211200	Enhancers	GM12878-XiMat	blood
24	chr15:93209000-93211600	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr15:93209200-93211200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr15:93209200-93211600	Enhancers	Placenta	Placenta
27	chr15:93209400-93211600	Enhancers	Fetal Intestine Large	intestine
28	chr15:93209400-93211800	Enhancers	Left Ventricle	heart
29	chr15:93209400-93211800	Enhancers	Right Atrium	heart
30	chr15:93209400-93212000	Enhancers	Ovary	ovary
31	chr15:93209600-93210400	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr15:93209600-93210400	Weak transcription	Stomach Mucosa	stomach
33	chr15:93209600-93210600	Enhancers	Colonic Mucosa	Colon
34	chr15:93209600-93210800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr15:93209600-93211000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr15:93209600-93211800	Enhancers	Right Ventricle	heart
37	chr15:93209800-93210400	Weak transcription	Pancreatic Islets	Pancreatic Islet
38	chr15:93209800-93210400	Bivalent Enhancer	HepG2	liver
39	chr15:93209800-93210800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr15:93210000-93210400	Enhancers	Brain Cingulate Gyrus	brain
41	chr15:93210000-93210600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
42	chr15:93210000-93210600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr15:93210000-93210600	Enhancers	Brain Hippocampus Middle	brain
44	chr15:93210000-93210600	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr15:93210000-93210800	Enhancers	Esophagus	oesophagus
46	chr15:93210000-93211200	Enhancers	H9 Cell Line	embryonic stem cell
47	chr15:93210000-93211200	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr15:93210000-93211200	Flanking Active TSS	Stomach Smooth Muscle	stomach
49	chr15:93210000-93211200	Flanking Active TSS	A549	lung
50	chr15:93210000-93211600	Enhancers	Psoas Muscle	Psoas

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