Variant report

Variant	rs3760640
Chromosome Location	chr19:42467282-42467283
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:42466954-42467765	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr19:42466845-42467806	H1-neurons	neurons:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42461956..42463771-chr19:42465748..42467644,2	K562	blood:

Variant related genes	Relation type
RABAC1	TF binding region
ENSG00000105404	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10425682	1.00[MEX][hapmap]
rs11669918	1.00[MEX][hapmap]
rs12985559	1.00[MEX][hapmap]
rs2303797	1.00[MEX][hapmap]
rs34578730	1.00[MEX][hapmap]

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:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42464000-42467400	Weak transcription	Esophagus	oesophagus
2	chr19:42464000-42469400	Weak transcription	Thymus	Thymus
3	chr19:42464000-42470200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr19:42464000-42470200	Weak transcription	Left Ventricle	heart
5	chr19:42464000-42470400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr19:42464000-42471400	Weak transcription	Right Ventricle	heart
7	chr19:42464000-42482000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:42464000-42485400	Weak transcription	Primary T cells from cord blood	blood
9	chr19:42464000-42485400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr19:42464000-42486600	Weak transcription	Right Atrium	heart
11	chr19:42464000-42495000	Weak transcription	Fetal Brain Male	brain
12	chr19:42464200-42468600	Weak transcription	Fetal Thymus	thymus
13	chr19:42464200-42470000	Weak transcription	Fetal Brain Female	brain
14	chr19:42464200-42470200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:42464200-42470200	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr19:42464200-42470200	Weak transcription	Dnd41	blood
17	chr19:42464200-42470400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr19:42464200-42470400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:42464200-42470400	Weak transcription	Brain Germinal Matrix	brain
20	chr19:42464200-42470400	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr19:42464200-42470400	Weak transcription	Monocytes-CD14+_RO01746	blood
22	chr19:42464200-42470600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:42464200-42471000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr19:42464200-42472000	Weak transcription	Brain Angular Gyrus	brain
25	chr19:42464200-42472600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr19:42464200-42473800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr19:42464200-42473800	Weak transcription	Brain Anterior Caudate	brain
28	chr19:42464200-42479600	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr19:42464200-42485400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr19:42464200-42485400	Weak transcription	Brain Cingulate Gyrus	brain
31	chr19:42464200-42489400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr19:42464200-42491000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
33	chr19:42464200-42491200	Weak transcription	Fetal Heart	heart
34	chr19:42464200-42493800	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr19:42464200-42495000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr19:42464200-42497400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr19:42464200-42497400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr19:42465600-42469200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr19:42467000-42467600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr19:42467200-42467400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr19:42467200-42467600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:42467200-42467600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr19:42467200-42467600	Bivalent Enhancer	Lung	lung
44	chr19:42467200-42467600	Enhancers	NHEK	skin

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