Variant report

Variant	rs74079227
Chromosome Location	chr13:50985013-50985014
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	NFIC	chr13:50984957-50986737	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:50984955..50986600-chr13:50990801..50992508,2	K562	blood:
2	chr13:50984531..50986156-chr13:50996985..50999573,2	K562	blood:
3	chr13:50973047..50975458-chr13:50984345..50987088,2	K562	blood:

Variant related genes	Relation type
DLEU1	TF binding region
ENSG00000176124	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs55818564	1.00[AMR][1000 genomes]
rs56329261	1.00[AMR][1000 genomes]
rs74076622	1.00[AMR][1000 genomes]
rs74076624	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74076626	1.00[AMR][1000 genomes]
rs74076629	1.00[AMR][1000 genomes]
rs74076632	1.00[AMR][1000 genomes]
rs74076633	1.00[AMR][1000 genomes]
rs74076634	1.00[AMR][1000 genomes]
rs74076635	1.00[AMR][1000 genomes]
rs74076636	1.00[AMR][1000 genomes]
rs74079212	1.00[AMR][1000 genomes]
rs74079228	1.00[AMR][1000 genomes]
rs74079233	1.00[AMR][1000 genomes]
rs74079235	1.00[AMR][1000 genomes]
rs74079244	1.00[AMR][1000 genomes]
rs74079246	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74079248	1.00[AMR][1000 genomes]
rs74079251	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74079254	0.89[AFR][1000 genomes];1.00[AMR][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:49 , 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	chr13:50980200-50987800	Enhancers	Thymus	Thymus
9	chr13:50980800-50988200	Enhancers	Fetal Thymus	thymus
10	chr13:50981200-50993000	Weak transcription	Fetal Heart	heart
11	chr13:50982200-50985600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr13:50982400-50987200	Weak transcription	Aorta	Aorta
13	chr13:50983600-50986200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr13:50983600-50987400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr13:50984000-50985200	Enhancers	Hela-S3	cervix
16	chr13:50984400-50985800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr13:50984400-50986400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr13:50984400-50987200	Enhancers	HUVEC	blood vessel
19	chr13:50984600-50986000	Enhancers	HepG2	liver
20	chr13:50984800-50985200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr13:50984800-50985200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr13:50984800-50985400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr13:50984800-50985400	Enhancers	K562	blood
24	chr13:50984800-50985600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr13:50984800-50985800	Enhancers	iPS-18 Cell Line	embryonic stem cell
26	chr13:50984800-50986800	Enhancers	HMEC	breast
27	chr13:50984800-50987400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr13:50984800-50987400	Enhancers	HSMMtube	muscle
29	chr13:50984800-50987800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr13:50984800-50987800	Enhancers	HSMM	muscle
31	chr13:50984800-50988000	Enhancers	Dnd41	blood
32	chr13:50985000-50985400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr13:50985000-50985400	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr13:50985000-50985600	Flanking Active TSS	A549	lung
35	chr13:50985000-50985800	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr13:50985000-50986600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr13:50985000-50986800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr13:50985000-50986800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr13:50985000-50986800	Enhancers	NHEK	skin
40	chr13:50985000-50987200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr13:50985000-50987200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr13:50985000-50987200	Enhancers	Fetal Lung	lung
43	chr13:50985000-50987400	Enhancers	Muscle Satellite Cultured Cells	--
44	chr13:50985000-50987400	Enhancers	Placenta Amnion	Placenta Amnion
45	chr13:50985000-50987400	Enhancers	NHLF	lung
46	chr13:50985000-50987600	Enhancers	Fetal Stomach	stomach
47	chr13:50985000-50987600	Enhancers	NH-A	brain
48	chr13:50985000-50987800	Enhancers	NHDF-Ad	bronchial
49	chr13:50985000-50987800	Enhancers	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links