Variant report

Variant	rs2066628
Chromosome Location	chr13:50760637-50760638
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:50760379..50762064-chr13:50762698..50765040,2	MCF-7	breast:
2	chr13:50760570..50765179-chr13:50765243..50769828,5	K562	blood:
3	chr13:50760566..50762913-chr13:51108077..51110898,2	MCF-7	breast:
4	chr13:50749766..50752648-chr13:50760518..50762559,2	MCF-7	breast:
5	chr13:50696202..50700492-chr13:50759152..50762847,4	K562	blood:

Variant related genes	Relation type
ENSG00000231607	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2580189	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2740517	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2765765	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs2812198	1.00[CHB][hapmap];0.83[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv832608	chr13:50678628-50888413	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
6	nsv1041501	chr13:50683189-50795195	Flanking Active TSS Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
7	nsv900076	chr13:50710579-50912578	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr13:50760000-50760800	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr13:50760000-50760800	Active TSS	iPS-18 Cell Line	embryonic stem cell
3	chr13:50760000-50760800	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr13:50760000-50761000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr13:50760000-50761200	Active TSS	iPS-15b Cell Line	embryonic stem cell
6	chr13:50760000-50761200	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr13:50760200-50760800	Active TSS	H1 Cell Line	embryonic stem cell
8	chr13:50760200-50760800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:50760200-50760800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr13:50760200-50760800	Active TSS	Primary T cells fromperipheralblood	blood
11	chr13:50760200-50760800	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr13:50760200-50761000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr13:50760200-50761200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
14	chr13:50760200-50761600	Active TSS	K562	blood
15	chr13:50760400-50760800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr13:50760400-50761000	Active TSS	A549	lung
17	chr13:50760400-50761200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr13:50760400-50761200	Bivalent/Poised TSS	HepG2	liver
19	chr13:50760400-50764000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr13:50760600-50761000	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr13:50760600-50761200	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr13:50760600-50761400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr13:50760600-50789200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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