Variant report

Variant	rs73550618
Chromosome Location	chr19:42418605-42418606
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SUZ12	chr19:42416055-42418681	NT2-D1	testis:	n/a	n/a
2	POLR2A	chr19:42418517-42419038	GM12891	blood:	n/a	n/a
3	POLR2A	chr19:42418434-42419057	GM12878	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42417890..42419536-chr19:42436129..42438238,2	MCF-7	breast:
2	chr19:42389117..42391614-chr19:42418078..42420063,2	K562	blood:
3	chr19:42418275..42422419-chr19:42423246..42425922,5	MCF-7	breast:
4	chr19:42416471..42421814-chr19:42422657..42426458,9	K562	blood:
5	chr19:42417752..42419397-chr19:42419968..42421844,2	MCF-7	breast:
6	chr19:42408822..42410567-chr19:42416215..42418825,2	MCF-7	breast:
7	chr19:42373255..42375761-chr19:42417935..42419997,2	K562	blood:
8	chr19:42410163..42415992-chr19:42417643..42422291,8	K562	blood:
9	chr19:42417456..42419449-chr19:42420592..42422417,2	K562	blood:
10	chr19:42389117..42392218-chr19:42417443..42420229,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268041	TF binding region
ENSG00000076928	Chromatin interaction
ENSG00000268041	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10401189	0.92[EUR][1000 genomes]
rs10401937	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10402667	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10403081	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10417495	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10419314	1.00[EUR][1000 genomes]
rs16975619	0.83[EUR][1000 genomes]
rs2288512	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2303798	0.82[ASN][1000 genomes]
rs28706300	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs717225	1.00[EUR][1000 genomes]
rs7252790	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7253691	1.00[EUR][1000 genomes]
rs73550603	0.82[ASN][1000 genomes]
rs73550610	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8109784	1.00[EUR][1000 genomes]
rs8113686	1.00[EUR][1000 genomes]
rs891169	0.81[AMR][1000 genomes]
rs891170	0.82[ASN][1000 genomes]
rs891171	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs891172	0.83[EUR][1000 genomes];0.81[ASN][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	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv911777	chr19:42357455-42521108	Bivalent/Poised TSS Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
5	nsv911780	chr19:42398450-42521108	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv911781	chr19:42398450-42542999	Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42389200-42429200	Weak transcription	Right Atrium	heart
2	chr19:42412600-42419600	Weak transcription	Ovary	ovary
3	chr19:42415400-42419800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
4	chr19:42415600-42419400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
5	chr19:42415800-42419000	Enhancers	Primary B cells from cord blood	blood
6	chr19:42416200-42419400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
7	chr19:42416400-42419400	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr19:42416400-42419400	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:42416400-42421000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
10	chr19:42416600-42419800	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
11	chr19:42417200-42418800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
12	chr19:42417400-42419400	Weak transcription	Gastric	stomach
13	chr19:42417600-42419400	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
14	chr19:42417600-42419600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
15	chr19:42417800-42419000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
16	chr19:42417800-42419400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
17	chr19:42417800-42419400	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
18	chr19:42417800-42420600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
19	chr19:42418000-42419200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
20	chr19:42418000-42419400	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
21	chr19:42418000-42419400	Bivalent Enhancer	A549	lung
22	chr19:42418200-42419400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
23	chr19:42418400-42419400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:42418400-42419400	Bivalent Enhancer	Primary T cells from cord blood	blood
25	chr19:42418400-42419400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr19:42418400-42420200	Enhancers	Dnd41	blood
27	chr19:42418600-42419400	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links