Variant report

Variant	rs58761976
Chromosome Location	chr13:38920293-38920294
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	RAD21	chr13:38920154-38920447	H1-hESC	embryonic stem cell:	n/a	chr13:38920328-38920337 chr13:38920314-38920333
2	EBF1	chr13:38920007-38920335	GM12878	blood:	n/a	chr13:38920155-38920165 chr13:38920168-38920181 chr13:38920168-38920179 chr13:38920170-38920180 chr13:38920154-38920165 chr13:38920153-38920166 chr13:38920155-38920164

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:38919497..38921426-chr13:38923012..38925574,2	MCF-7	breast:
2	chr13:38915558..38922004-chr13:38925835..38933064,8	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UFM1-5	chr13:38919976-38920521	NONHSAT033268

Variant related genes	Relation type
UFM1	TF binding region
ENSG00000120686	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1330969	1.00[EUR][1000 genomes]
rs17057723	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17057922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17057928	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2019516	0.87[AFR][1000 genomes]
rs2202119	0.83[AMR][1000 genomes]
rs2231334	1.00[EUR][1000 genomes]
rs4941892	1.00[EUR][1000 genomes]
rs591476	1.00[EUR][1000 genomes]
rs608474	1.00[EUR][1000 genomes]
rs611989	1.00[EUR][1000 genomes]
rs6563606	1.00[EUR][1000 genomes]
rs7317798	1.00[EUR][1000 genomes]
rs73458165	0.83[AMR][1000 genomes]
rs73460211	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460212	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460215	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460289	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73460298	1.00[EUR][1000 genomes]
rs73462314	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462331	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462332	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73462335	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9532205	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	nsv915901	chr13:38199035-39032633	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv869125	chr13:38550449-39132813	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv949406	chr13:38561474-39033484	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv561512	chr13:38881318-38930893	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv900005	chr13:38881318-38932949	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:38915800-38922400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr13:38915800-38922800	Weak transcription	Stomach Mucosa	stomach
3	chr13:38918800-38921000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr13:38919600-38922800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:38920000-38922600	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr13:38920200-38920400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr13:38920200-38920400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr13:38920200-38920400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr13:38920200-38920400	Enhancers	Small Intestine	intestine
10	chr13:38920200-38920400	Enhancers	NH-A	brain
11	chr13:38920200-38920400	Enhancers	NHDF-Ad	bronchial
12	chr13:38920200-38920600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr13:38920200-38920600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr13:38920200-38920800	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr13:38920200-38920800	Enhancers	HMEC	breast
16	chr13:38920200-38921000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr13:38920200-38921200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr13:38920200-38922600	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr13:38920200-38922600	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr13:38920200-38922800	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr13:38920200-38922800	Enhancers	NHEK	skin
22	chr13:38920200-38923000	Weak transcription	Psoas Muscle	Psoas

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