Variant report

Variant	rs4941671
Chromosome Location	chr13:50984522-50984523
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	chr13:50973047..50975458-chr13:50984345..50987088,2	K562	blood:

Variant related genes	Relation type
ENSG00000176124	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1023054	0.86[ASN][1000 genomes]
rs1023055	0.86[ASN][1000 genomes]
rs17365319	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17366676	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1035151	chr13:50513535-51167850	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1254 gene(s)	inside rSNPs	diseases
2	esv2753964	chr13:50545399-51421199	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
3	esv2753492	chr13:50550081-51461720	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1256 gene(s)	inside rSNPs	diseases
4	esv2752608	chr13:50550099-51054499	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1249 gene(s)	inside rSNPs	diseases
5	nsv832609	chr13:50946577-51065968	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1045237	chr13:50976560-51102386	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50968200-50985400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr13:50968200-50986600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr13:50972200-50985400	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr13:50975400-50985200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr13:50975400-50996200	Weak transcription	Right Ventricle	heart
6	chr13:50975800-50985200	Weak transcription	Right Atrium	heart
7	chr13:50976600-50985200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr13:50977000-50985000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr13:50977600-50985000	Weak transcription	Osteobl	bone
10	chr13:50978000-50984600	Weak transcription	HepG2	liver
11	chr13:50979200-50984800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr13:50979200-50985000	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr13:50980200-50987800	Enhancers	Thymus	Thymus
14	chr13:50980800-50988200	Enhancers	Fetal Thymus	thymus
15	chr13:50981200-50993000	Weak transcription	Fetal Heart	heart
16	chr13:50982200-50985600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr13:50982400-50987200	Weak transcription	Aorta	Aorta
18	chr13:50983600-50985000	Weak transcription	NHDF-Ad	bronchial
19	chr13:50983600-50986200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr13:50983600-50987400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr13:50983800-50984800	Weak transcription	Dnd41	blood
22	chr13:50984000-50985000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr13:50984000-50985200	Enhancers	Hela-S3	cervix
24	chr13:50984400-50984800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr13:50984400-50985800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr13:50984400-50986400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr13:50984400-50987200	Enhancers	HUVEC	blood vessel

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