Variant report

Variant	rs873511
Chromosome Location	chr5:113390646-113390647
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr5:113390532-113392128	IMR90	lung:	n/a	n/a
2	REST	chr5:113390598-113391613	H1-neurons	neurons:	n/a	chr5:113391383-113391393 chr5:113390760-113390769 chr5:113391257-113391270

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:113352228..113355124-chr5:113389622..113391214,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000251628	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10076931	0.93[EUR][1000 genomes]
rs13171100	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1487227	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][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	nsv471042	chr5:113160490-113440892	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:113388200-113390800	Enhancers	Colon Smooth Muscle	Colon
2	chr5:113388400-113391000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:113388800-113391200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:113389200-113390800	Bivalent Enhancer	Fetal Muscle Leg	muscle
5	chr5:113389400-113390800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr5:113389600-113390800	Enhancers	Psoas Muscle	Psoas
7	chr5:113389600-113390800	Enhancers	Rectal Smooth Muscle	rectum
8	chr5:113389600-113391200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr5:113390000-113390800	Bivalent Enhancer	Fetal Lung	lung
10	chr5:113390000-113391000	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
11	chr5:113390000-113392200	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr5:113390200-113390800	Enhancers	Brain Angular Gyrus	brain
13	chr5:113390200-113390800	Enhancers	Fetal Muscle Trunk	muscle
14	chr5:113390200-113390800	Enhancers	Right Atrium	heart
15	chr5:113390200-113391200	Enhancers	Fetal Brain Male	brain
16	chr5:113390200-113391400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr5:113390200-113392400	Active TSS	Pancreas	Pancrea
18	chr5:113390400-113390800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:113390400-113390800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
20	chr5:113390400-113390800	Flanking Active TSS	Fetal Brain Female	brain
21	chr5:113390400-113390800	Enhancers	Left Ventricle	heart
22	chr5:113390400-113391000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
23	chr5:113390400-113391000	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr5:113390400-113391200	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr5:113390600-113390800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
26	chr5:113390600-113390800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
27	chr5:113390600-113390800	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
28	chr5:113390600-113390800	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr5:113390600-113390800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr5:113390600-113390800	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr5:113390600-113390800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
32	chr5:113390600-113390800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr5:113390600-113390800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
34	chr5:113390600-113390800	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
35	chr5:113390600-113390800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr5:113390600-113390800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr5:113390600-113390800	Flanking Active TSS	Brain Anterior Caudate	brain
38	chr5:113390600-113390800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
39	chr5:113390600-113390800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
40	chr5:113390600-113390800	Flanking Active TSS	Fetal Kidney	kidney
41	chr5:113390600-113390800	Flanking Active TSS	Ovary	ovary
42	chr5:113390600-113390800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
43	chr5:113390600-113390800	Bivalent Enhancer	HSMMtube	muscle
44	chr5:113390600-113391000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr5:113390600-113391000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
46	chr5:113390600-113391000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
47	chr5:113390600-113391000	Bivalent Enhancer	Adipose Nuclei	Adipose
48	chr5:113390600-113391000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr5:113390600-113391000	Flanking Active TSS	Fetal Heart	heart
50	chr5:113390600-113391000	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach

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