Variant report

Variant	rs13138393
Chromosome Location	chr4:3381990-3381991
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	SETDB1	chr4:3381926-3382605	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
RGS12	TF binding region

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10212869	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13115912	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13152170	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2343800	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6826720	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6855619	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71597208	0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv878456	chr4:3215835-3467519	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv428106	chr4:3226182-3752322	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv878462	chr4:3311548-3505448	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv1007847	chr4:3317904-3527357	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv537001	chr4:3317904-3527357	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv878463	chr4:3363994-3498896	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3372200-3382000	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr4:3372200-3386400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr4:3372400-3382000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr4:3373000-3389000	Weak transcription	Psoas Muscle	Psoas
5	chr4:3373400-3382000	Weak transcription	Duodenum Mucosa	Duodenum
6	chr4:3373400-3388400	Weak transcription	Fetal Kidney	kidney
7	chr4:3373400-3388800	Weak transcription	Colon Smooth Muscle	Colon
8	chr4:3375000-3389200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:3375200-3387000	Weak transcription	Right Atrium	heart
10	chr4:3375400-3386200	Weak transcription	Right Ventricle	heart
11	chr4:3375400-3386400	Weak transcription	Brain Substantia Nigra	brain
12	chr4:3375400-3386600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr4:3375400-3389600	Weak transcription	NHLF	lung
14	chr4:3375600-3386200	Weak transcription	Brain Cingulate Gyrus	brain
15	chr4:3375600-3387000	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr4:3377600-3383600	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr4:3378200-3388800	Weak transcription	Fetal Heart	heart
18	chr4:3378400-3382200	Weak transcription	Gastric	stomach
19	chr4:3378400-3386400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr4:3378400-3388800	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr4:3378400-3389000	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr4:3378400-3389200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr4:3378400-3389200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr4:3378400-3390400	Weak transcription	Ovary	ovary
25	chr4:3378600-3382000	Weak transcription	Lung	lung
26	chr4:3378600-3382000	Weak transcription	HUVEC	blood vessel
27	chr4:3378600-3386200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
28	chr4:3378600-3386400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr4:3378600-3389600	Weak transcription	Aorta	Aorta
30	chr4:3378800-3386400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr4:3379400-3383600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr4:3379800-3382800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr4:3379800-3383000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:3380000-3382000	Strong transcription	Fetal Lung	lung
35	chr4:3380400-3383000	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
36	chr4:3380800-3382800	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr4:3380800-3386800	Weak transcription	Primary T cells from cord blood	blood
38	chr4:3381000-3389000	Weak transcription	Fetal Brain Male	brain
39	chr4:3381000-3389200	Weak transcription	HSMMtube	muscle
40	chr4:3381400-3382200	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr4:3381400-3382200	ZNF genes & repeats	HepG2	liver
42	chr4:3381400-3382600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr4:3381400-3382600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr4:3381400-3382600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr4:3381400-3382600	ZNF genes & repeats	Fetal Muscle Leg	muscle
46	chr4:3381400-3383400	ZNF genes & repeats	Fetal Intestine Small	intestine
47	chr4:3381600-3382600	ZNF genes & repeats	Fetal Stomach	stomach
48	chr4:3381800-3382200	ZNF genes & repeats	Adipose Nuclei	Adipose
49	chr4:3381800-3382200	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
50	chr4:3381800-3382200	ZNF genes & repeats	Fetal Muscle Trunk	muscle

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