Variant report

Variant	rs11879481
Chromosome Location	chr19:42389595-42389596
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42389226..42390893-chr19:42441627..42443907,2	MCF-7	breast:
2	chr19:42385735..42391033-chr19:42460351..42463651,6	K562	blood:
3	chr19:42386056..42389793-chr19:42407267..42411147,5	MCF-7	breast:
4	chr19:42388132..42389933-chr19:42401964..42404218,2	K562	blood:
5	chr19:42385706..42396512-chr19:42423854..42433641,19	K562	blood:
6	chr19:42389117..42392218-chr19:42417443..42420229,3	K562	blood:
7	chr19:42385318..42391505-chr19:42458040..42463569,9	MCF-7	breast:
8	chr19:42389371..42391920-chr19:42438453..42441265,2	MCF-7	breast:
9	chr19:42382327..42390135-chr19:42429723..42437438,12	MCF-7	breast:
10	chr19:42387685..42389812-chr19:42806888..42808559,2	K562	blood:
11	chr19:42388358..42390538-chr19:42579521..42581745,2	MCF-7	breast:
12	chr19:42389117..42391614-chr19:42418078..42420063,2	K562	blood:
13	chr19:42384855..42393410-chr19:42428364..42439251,22	K562	blood:
14	chr19:42389271..42392129-chr19:42772552..42774561,2	MCF-7	breast:
15	chr19:42386109..42390387-chr19:42411996..42416642,6	K562	blood:
16	chr19:42385036..42390018-chr19:42460408..42463391,5	K562	blood:
17	chr19:42387951..42392334-chr19:42459610..42463737,7	MCF-7	breast:
18	chr19:42388986..42391635-chr2:199208235..199210709,2	MCF-7	breast:
19	chr19:42362804..42368897-chr19:42386582..42393421,16	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000268041	Chromatin interaction
ENSG00000105732	Chromatin interaction
ENSG00000105372	Chromatin interaction
ENSG00000076928	Chromatin interaction
ENSG00000105404	Chromatin interaction
ENSG00000079462	Chromatin interaction
ENSG00000079432	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11083640	1.00[EUR][1000 genomes]
rs11879132	1.00[EUR][1000 genomes]
rs11879437	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11880116	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11880852	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11881323	1.00[EUR][1000 genomes]
rs11881346	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11881932	1.00[EUR][1000 genomes]
rs34704406	1.00[EUR][1000 genomes]
rs41301951	1.00[EUR][1000 genomes]

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	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	nsv1061878	chr19:42325490-42416056	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv911776	chr19:42343526-42416056	Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	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
5	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
6	nsv911778	chr19:42358362-42416056	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	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

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42387000-42390200	Active TSS	Primary T cells from cord blood	blood
2	chr19:42387600-42390400	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr19:42387800-42389600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr19:42388400-42389600	Flanking Active TSS	Primary B cells from cord blood	blood
5	chr19:42388600-42391400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr19:42389000-42389600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr19:42389000-42389600	Enhancers	Placenta Amnion	Placenta Amnion
8	chr19:42389000-42389600	Flanking Active TSS	GM12878-XiMat	blood
9	chr19:42389000-42390400	Transcr. at gene 5' and 3'	Thymus	Thymus
10	chr19:42389000-42390800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
11	chr19:42389000-42390800	Weak transcription	Esophagus	oesophagus
12	chr19:42389000-42391000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr19:42389000-42391200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr19:42389000-42391200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr19:42389000-42392400	Enhancers	Pancreas	Pancrea
16	chr19:42389000-42396000	Weak transcription	Aorta	Aorta
17	chr19:42389000-42396000	Weak transcription	Ovary	ovary
18	chr19:42389200-42389600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr19:42389200-42389600	Enhancers	Liver	Liver
20	chr19:42389200-42389600	Enhancers	Placenta	Placenta
21	chr19:42389200-42389600	Enhancers	Right Ventricle	heart
22	chr19:42389200-42389800	Enhancers	NH-A	brain
23	chr19:42389200-42390400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr19:42389200-42390400	Enhancers	Fetal Muscle Leg	muscle
25	chr19:42389200-42390600	Genic enhancers	Primary B cells from peripheral blood	blood
26	chr19:42389200-42390800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr19:42389200-42391000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr19:42389200-42391000	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr19:42389200-42391000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr19:42389200-42391000	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr19:42389200-42391000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr19:42389200-42391000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr19:42389200-42391000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr19:42389200-42391000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr19:42389200-42391200	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr19:42389200-42391600	Enhancers	Fetal Heart	heart
37	chr19:42389200-42391600	Enhancers	Fetal Muscle Trunk	muscle
38	chr19:42389200-42391800	Enhancers	Adipose Nuclei	Adipose
39	chr19:42389200-42391800	Enhancers	Lung	lung
40	chr19:42389200-42392000	Genic enhancers	Spleen	Spleen
41	chr19:42389200-42392400	Enhancers	Fetal Intestine Large	intestine
42	chr19:42389200-42392600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
43	chr19:42389200-42407200	Weak transcription	Fetal Kidney	kidney
44	chr19:42389200-42429200	Weak transcription	Right Atrium	heart
45	chr19:42389400-42389600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr19:42389400-42389600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr19:42389400-42389600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr19:42389400-42389600	Enhancers	Brain Germinal Matrix	brain
49	chr19:42389400-42389600	Enhancers	Brain Substantia Nigra	brain
50	chr19:42389400-42389600	Enhancers	A549	lung

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