Variant report

Variant	rs2290694
Chromosome Location	chr19:42526232-42526233
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42522044..42523912-chr19:42525506..42527046,2	K562	blood:
2	chr19:42499288..42501034-chr19:42524596..42527104,2	K562	blood:
3	chr19:42521207..42523912-chr19:42524838..42527046,3	K562	blood:
4	chr19:42363941..42366557-chr19:42526219..42528544,2	MCF-7	breast:
5	chr19:42522090..42523757-chr19:42525949..42528792,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105372	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10425682	1.00[CHD][hapmap];1.00[LWK][hapmap]
rs11083643	1.00[CHD][hapmap];1.00[LWK][hapmap]
rs11668239	1.00[CHD][hapmap]
rs12609687	1.00[CHD][hapmap]
rs12976997	1.00[CHD][hapmap]
rs12985559	1.00[CHD][hapmap];1.00[LWK][hapmap]
rs34578730	1.00[CHD][hapmap]

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	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	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
3	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
4	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
5	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42504800-42532600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:42505000-42534200	Weak transcription	Fetal Brain Male	brain
3	chr19:42506000-42529000	Weak transcription	Brain Angular Gyrus	brain
4	chr19:42506000-42535400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr19:42507600-42528200	Weak transcription	Colon Smooth Muscle	Colon
6	chr19:42508600-42527200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:42510000-42528800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr19:42511000-42528600	Weak transcription	Brain Hippocampus Middle	brain
9	chr19:42511000-42542600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:42511200-42532600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr19:42519200-42531600	Weak transcription	Pancreas	Pancrea
12	chr19:42519400-42528800	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr19:42519600-42529000	Strong transcription	Brain Germinal Matrix	brain
14	chr19:42519600-42530200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:42519800-42534200	Strong transcription	Fetal Brain Female	brain
16	chr19:42520600-42527800	Strong transcription	Fetal Stomach	stomach
17	chr19:42522800-42527200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:42523200-42526800	Strong transcription	Stomach Smooth Muscle	stomach
19	chr19:42523200-42527000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr19:42523400-42527200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr19:42523400-42527600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr19:42523600-42528800	Weak transcription	NHDF-Ad	bronchial
23	chr19:42523800-42526800	Weak transcription	Osteobl	bone
24	chr19:42524800-42526800	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr19:42525000-42526800	Strong transcription	HUES48 Cell Line	embryonic stem cell
26	chr19:42525200-42526400	Strong transcription	Brain Anterior Caudate	brain
27	chr19:42525200-42526400	Strong transcription	Brain Substantia Nigra	brain
28	chr19:42525200-42526600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr19:42525200-42526800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
30	chr19:42525200-42527200	Strong transcription	Aorta	Aorta
31	chr19:42525200-42527200	Strong transcription	Brain Inferior Temporal Lobe	brain
32	chr19:42525200-42527400	Enhancers	Dnd41	blood
33	chr19:42525200-42527800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr19:42525200-42528000	Weak transcription	Right Atrium	heart
35	chr19:42525400-42526400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr19:42525600-42526400	Enhancers	Fetal Thymus	thymus
37	chr19:42525600-42526600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr19:42525600-42526800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
39	chr19:42525600-42527000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
40	chr19:42525800-42526800	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr19:42526000-42526600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr19:42526000-42529000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr19:42526200-42526400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr19:42526200-42526800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr19:42526200-42527400	Enhancers	Right Ventricle	heart
46	chr19:42526200-42528000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr19:42526200-42530200	Enhancers	Fetal Heart	heart
48	chr19:42526200-42532600	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr19:42526200-42532600	Weak transcription	HUES64 Cell Line	embryonic stem cell

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