Variant report

Variant	rs3758486
Chromosome Location	chr10:90714728-90714729
allele	C/T
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	EP300	chr10:90714464-90714785	SK-N-SH_RA	brain:	n/a	n/a
2	EP300	chr10:90714464-90714771	SK-N-SH_RA	brain:	n/a	n/a

Variant related genes	Relation type
ACTA2	TF binding region

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10509560	1.00[EUR][1000 genomes]
rs17114116	1.00[EUR][1000 genomes]
rs17114143	1.00[EUR][1000 genomes]
rs17114182	1.00[EUR][1000 genomes]
rs17114283	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17114327	1.00[CHB][hapmap];0.87[ASN][1000 genomes]
rs17114339	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3781206	1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3781208	1.00[EUR][1000 genomes]
rs3816245	1.00[EUR][1000 genomes]
rs7070713	1.00[EUR][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	nsv529324	chr10:90198865-90738588	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv831942	chr10:90564697-90730352	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv831943	chr10:90664836-90865834	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90695800-90720800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr10:90699000-90724200	Weak transcription	Small Intestine	intestine
3	chr10:90699400-90715400	Weak transcription	HepG2	liver
4	chr10:90699600-90721800	Weak transcription	Fetal Thymus	thymus
5	chr10:90701400-90720800	Weak transcription	Primary T cells from cord blood	blood
6	chr10:90704000-90721400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr10:90705000-90721800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr10:90712800-90720800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr10:90713200-90715400	Enhancers	Fetal Stomach	stomach
10	chr10:90713200-90718200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr10:90713400-90716800	Weak transcription	Fetal Intestine Small	intestine
12	chr10:90713400-90718200	Weak transcription	Osteobl	bone
13	chr10:90713400-90718400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr10:90713400-90724400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr10:90713600-90714800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr10:90713600-90720000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr10:90713600-90720200	Weak transcription	NHLF	lung
18	chr10:90713600-90733800	Weak transcription	HSMM	muscle
19	chr10:90713800-90714800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
20	chr10:90713800-90718200	Weak transcription	NHDF-Ad	bronchial
21	chr10:90714000-90716000	Weak transcription	Aorta	Aorta
22	chr10:90714200-90715800	Enhancers	Colon Smooth Muscle	Colon
23	chr10:90714600-90714800	Enhancers	Fetal Muscle Leg	muscle
24	chr10:90714600-90715000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr10:90714600-90715400	Enhancers	Ovary	ovary

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