Variant report

Variant	rs2019516
Chromosome Location	chr13:38922011-38922012
allele	G/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	STAT3	chr13:38921914-38922114	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:38921186..38924004-chr13:38924043..38925621,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-UFM1-3	chr13:38921740-38922059	NONHSAT033270

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

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs1011484	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10507469	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10507470	1.00[CHB][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1590952	1.00[ASN][1000 genomes]
rs17057355	1.00[CHB][hapmap]
rs17057710	1.00[ASN][1000 genomes]
rs17057848	1.00[ASN][1000 genomes]
rs17057900	1.00[ASN][1000 genomes]
rs2173948	1.00[ASN][1000 genomes]
rs2231320	1.00[ASN][1000 genomes]
rs2231335	1.00[ASN][1000 genomes]
rs2231336	1.00[ASN][1000 genomes]
rs2455408	1.00[ASN][1000 genomes]
rs2455413	1.00[ASN][1000 genomes]
rs2481887	1.00[ASN][1000 genomes]
rs2481888	1.00[ASN][1000 genomes]
rs2481892	1.00[ASN][1000 genomes]
rs2485779	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2496468	1.00[ASN][1000 genomes]
rs56306542	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58761976	0.87[AFR][1000 genomes]
rs7322186	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73460283	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74047550	1.00[ASN][1000 genomes]
rs74047552	1.00[ASN][1000 genomes]
rs74047553	1.00[ASN][1000 genomes]
rs74047554	1.00[ASN][1000 genomes]
rs9532217	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9548328	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9888482	1.00[CHB][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:23 , 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	chr13:38919600-38922800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr13:38920000-38922600	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr13:38920200-38922600	Enhancers	ES-I3 Cell Line	embryonic stem cell
6	chr13:38920200-38922600	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr13:38920200-38922800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr13:38920200-38922800	Enhancers	NHEK	skin
9	chr13:38920200-38923000	Weak transcription	Psoas Muscle	Psoas
10	chr13:38920400-38922600	Weak transcription	Small Intestine	intestine
11	chr13:38920400-38922800	Weak transcription	NH-A	brain
12	chr13:38920400-38923000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr13:38920400-38923200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr13:38920600-38922600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr13:38921200-38922400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:38921400-38922600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr13:38921400-38922600	Enhancers	HUES64 Cell Line	embryonic stem cell
18	chr13:38921400-38922600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr13:38921400-38922600	Enhancers	HMEC	breast
20	chr13:38921600-38922600	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr13:38921600-38922600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr13:38922000-38922600	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr13:38922000-38922600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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