Variant report

Variant	rs74078321
Chromosome Location	chr13:51104134-51104135
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	TCF7L2	chr13:51102991-51104257	HEK293	kidney:	n/a	chr13:51103946-51103960
2	TCF7L2	chr13:51103244-51104138	PANC-1	pancreas:	n/a	chr13:51103946-51103960
3	NFIC	chr13:51103204-51104191	ECC-1	luminal epithelium:	n/a	n/a
4	TCF7L2	chr13:51103225-51104143	HCT-116	colon:	n/a	chr13:51103946-51103960
5	SP1	chr13:51103132-51104138	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:50699976..50701803-chr13:51102949..51104727,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RNASEH2B-3	chr13:51102316-51104215	NONHSAT033842

Variant related genes	Relation type
ENSG00000229323	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11841965	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3118906	0.84[AFR][1000 genomes]
rs41284832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73184414	0.83[AFR][1000 genomes]
rs73184428	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73184429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73184436	1.00[EUR][1000 genomes]
rs73184440	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs74077828	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:51100000-51105200	Enhancers	Primary T cells from cord blood	blood
2	chr13:51100400-51105200	Enhancers	Cortex derived primary cultured neurospheres	brain
3	chr13:51100600-51104200	Enhancers	ES-I3 Cell Line	embryonic stem cell
4	chr13:51100800-51104200	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr13:51102000-51106000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr13:51102200-51106000	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr13:51102400-51104200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:51102800-51104400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr13:51103000-51104200	Enhancers	Stomach Mucosa	stomach
10	chr13:51103200-51104200	Enhancers	HUES6 Cell Line	embryonic stem cell
11	chr13:51103200-51104400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr13:51103200-51104600	Enhancers	HUVEC	blood vessel
13	chr13:51103200-51104800	Enhancers	Fetal Heart	heart
14	chr13:51103400-51104200	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr13:51103400-51104200	Flanking Active TSS	Brain Substantia Nigra	brain
16	chr13:51103400-51104200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
17	chr13:51103400-51104400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr13:51103400-51104400	Flanking Active TSS	NHLF	lung
19	chr13:51103400-51104600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr13:51103600-51104400	Flanking Active TSS	HSMMtube	muscle
21	chr13:51103800-51104200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr13:51103800-51104600	Active TSS	Skeletal Muscle Female	skeletal muscle
23	chr13:51103800-51104800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
24	chr13:51103800-51110600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr13:51104000-51104200	Enhancers	Brain Anterior Caudate	brain
26	chr13:51104000-51104200	Active TSS	Brain Hippocampus Middle	brain
27	chr13:51104000-51104200	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr13:51104000-51104200	Enhancers	Colon Smooth Muscle	Colon
29	chr13:51104000-51104200	Weak transcription	Fetal Kidney	kidney
30	chr13:51104000-51104200	Enhancers	NH-A	brain
31	chr13:51104000-51104200	Enhancers	NHDF-Ad	bronchial
32	chr13:51104000-51104400	Enhancers	Brain Cingulate Gyrus	brain
33	chr13:51104000-51104400	Enhancers	Rectal Smooth Muscle	rectum
34	chr13:51104000-51104600	Enhancers	Muscle Satellite Cultured Cells	--
35	chr13:51104000-51104600	Enhancers	Adipose Nuclei	Adipose
36	chr13:51104000-51104600	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr13:51104000-51104600	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr13:51104000-51104600	Enhancers	HMEC	breast
39	chr13:51104000-51104600	Enhancers	HSMM	muscle
40	chr13:51104000-51104800	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr13:51104000-51104800	Enhancers	NHEK	skin
42	chr13:51104000-51105400	Enhancers	Dnd41	blood
43	chr13:51104000-51106200	Enhancers	Liver	Liver
44	chr13:51104000-51106400	Weak transcription	Thymus	Thymus
45	chr13:51104000-51106800	Enhancers	Osteobl	bone

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