Variant report

Variant	rs62119450
Chromosome Location	chr19:42076923-42076924
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:41954976..41956003-chr19:42076182..42077940,10	MCF-7	breast:
2	chr19:41945498..41946299-chr19:42076700..42077272,2	MCF-7	breast:
3	chr19:42048016..42049035-chr19:42076640..42077541,6	MCF-7	breast:
4	chr19:41941738..41942622-chr19:42076685..42077563,3	MCF-7	breast:
5	chr19:42048109..42049006-chr19:42076514..42077838,6	MCF-7	breast:
6	chr19:41954991..41955547-chr19:42076737..42077301,2	MCF-7	breast:
7	chr19:42044232..42044742-chr19:42076655..42077555,2	MCF-7	breast:
8	chr19:41953484..41955550-chr19:42076712..42078351,2	MCF-7	breast:
9	chr19:41954980..41955905-chr19:42076786..42077640,5	K562	blood:
10	chr19:41824418..41826193-chr19:42074523..42077074,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105341	Chromatin interaction
ENSG00000142039	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11881771	1.00[EUR][1000 genomes]
rs16975329	0.89[EUR][1000 genomes]
rs16975336	0.89[EUR][1000 genomes]
rs16975348	0.89[EUR][1000 genomes]
rs62119364	0.89[EUR][1000 genomes]
rs62119366	0.89[EUR][1000 genomes]
rs62119367	0.89[EUR][1000 genomes]
rs62119368	0.89[EUR][1000 genomes]
rs62119370	0.89[EUR][1000 genomes]
rs62119371	0.89[EUR][1000 genomes]
rs62119372	0.89[EUR][1000 genomes]
rs62119373	0.89[EUR][1000 genomes]
rs62119374	0.89[EUR][1000 genomes]
rs62119376	0.89[EUR][1000 genomes]
rs62119408	0.89[EUR][1000 genomes]
rs62119409	0.89[EUR][1000 genomes]
rs62119410	0.89[EUR][1000 genomes]
rs62119416	0.89[EUR][1000 genomes]
rs62119418	0.89[EUR][1000 genomes]
rs62119419	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs62119420	1.00[EUR][1000 genomes]
rs62119421	1.00[EUR][1000 genomes]
rs62119449	1.00[EUR][1000 genomes]
rs62119451	0.80[AFR][1000 genomes]
rs62119452	0.87[EUR][1000 genomes]
rs62119454	0.87[AFR][1000 genomes]
rs7246864	0.80[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7255763	1.00[EUR][1000 genomes]
rs7255775	1.00[EUR][1000 genomes]
rs7260464	0.89[EUR][1000 genomes]
rs9749229	0.89[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	nsv911771	chr19:41962486-42085873	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
2	nsv911773	chr19:42001210-42085873	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1057624	chr19:42057334-42152828	Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1058847	chr19:42057334-42172442	Bivalent/Poised TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv1063241	chr19:42057334-42175160	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv519408	chr19:42066279-42171906	Bivalent Enhancer Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv962986	chr19:42073874-42080172	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42069400-42077600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr19:42071600-42082000	Weak transcription	Primary hematopoietic stem cells	blood
3	chr19:42072800-42078600	Weak transcription	Primary B cells from cord blood	blood
4	chr19:42074800-42077600	Genic enhancers	Primary T cells fromperipheralblood	blood
5	chr19:42075400-42077800	Enhancers	Primary T helper cells fromperipheralblood	blood
6	chr19:42076000-42077400	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr19:42076000-42077400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:42076000-42077600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr19:42076200-42077000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr19:42076200-42077400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:42076200-42077400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr19:42076200-42077600	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr19:42076400-42077000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
14	chr19:42076400-42077200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr19:42076400-42077200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr19:42076400-42077200	Bivalent Enhancer	Fetal Muscle Leg	muscle
17	chr19:42076400-42077400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr19:42076400-42077400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr19:42076400-42077400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr19:42076400-42077600	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr19:42076400-42077600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr19:42076400-42077600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
23	chr19:42076600-42077000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
24	chr19:42076600-42077200	Enhancers	Primary T cells from cord blood	blood
25	chr19:42076600-42077400	Enhancers	Primary B cells from peripheral blood	blood
26	chr19:42076600-42077400	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr19:42076800-42077000	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr19:42076800-42077000	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr19:42076800-42077000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
30	chr19:42076800-42077000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr19:42076800-42077000	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr19:42076800-42077000	Enhancers	Primary hematopoietic stem cells short term culture	blood
33	chr19:42076800-42077000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
34	chr19:42076800-42077000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
35	chr19:42076800-42077000	Bivalent Enhancer	A549	lung
36	chr19:42076800-42077000	Enhancers	Monocytes-CD14+_RO01746	blood
37	chr19:42076800-42077200	Enhancers	Colonic Mucosa	Colon
38	chr19:42076800-42077400	Bivalent Enhancer	Rectal Mucosa Donor 29	rectum
39	chr19:42076800-42081800	Weak transcription	GM12878-XiMat	blood

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