Variant report

Variant	rs555712600
Chromosome Location	chr19:42412651-42412652
allele	A/G
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42411008..42413739-chr19:42433473..42435973,2	K562	blood:
2	chr19:42407772..42411584-chr19:42411987..42415149,3	MCF-7	breast:
3	chr19:42364123..42365765-chr19:42410876..42413809,2	K562	blood:
4	chr19:42404765..42407513-chr19:42412043..42413976,2	MCF-7	breast:
5	chr19:42406370..42409595-chr19:42409748..42413169,6	K562	blood:
6	chr19:42407893..42409933-chr19:42411408..42413461,2	MCF-7	breast:
7	chr19:42386109..42390387-chr19:42411996..42416642,6	K562	blood:
8	chr19:42400409..42404033-chr19:42410840..42416491,6	K562	blood:

No data

Variant related genes	Relation type
ENSG00000076928	Chromatin interaction
ENSG00000105372	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:12 , 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
8	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
9	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
10	esv3423326	chr19:42410937-42413485	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
11	esv3444529	chr19:42411162-42413160	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region miRNA target site	4 gene(s)	inside rSNPs	diseases
12	esv3436515	chr19:42411612-42412710	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42389200-42429200	Weak transcription	Right Atrium	heart
2	chr19:42392200-42412800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr19:42392400-42413200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr19:42392600-42413600	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr19:42393400-42413600	Strong transcription	Thymus	Thymus
6	chr19:42393800-42413000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr19:42394000-42413000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr19:42396800-42415200	Strong transcription	Dnd41	blood
9	chr19:42397400-42413600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:42397600-42412800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr19:42398800-42414000	Strong transcription	Fetal Thymus	thymus
12	chr19:42403000-42413200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr19:42406800-42413200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr19:42407000-42413800	Weak transcription	HUVEC	blood vessel
15	chr19:42408000-42413600	Strong transcription	NHLF	lung
16	chr19:42408000-42414200	Weak transcription	Fetal Kidney	kidney
17	chr19:42408400-42414200	Weak transcription	K562	blood
18	chr19:42408600-42413000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr19:42408600-42413600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr19:42409000-42413200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr19:42409200-42413200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr19:42409400-42413200	Strong transcription	Fetal Stomach	stomach
23	chr19:42409400-42413800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr19:42409400-42414000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:42409600-42413200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:42409600-42413200	Weak transcription	HSMM	muscle
27	chr19:42409600-42413600	Weak transcription	NHDF-Ad	bronchial
28	chr19:42409800-42413000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr19:42409800-42414400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr19:42409800-42414400	Weak transcription	HSMMtube	muscle
31	chr19:42410000-42412800	Strong transcription	Lung	lung
32	chr19:42410000-42413000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr19:42410000-42414800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr19:42410200-42413400	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr19:42410200-42414000	Strong transcription	Fetal Intestine Small	intestine
36	chr19:42410200-42414200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr19:42410400-42412800	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr19:42410400-42413200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr19:42410600-42413600	Weak transcription	HepG2	liver
40	chr19:42410600-42414000	Weak transcription	Brain Anterior Caudate	brain
41	chr19:42410600-42415400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr19:42410800-42412800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr19:42410800-42413600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr19:42410800-42415000	Weak transcription	NH-A	brain
45	chr19:42411000-42413000	Strong transcription	Colonic Mucosa	Colon
46	chr19:42411000-42414400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr19:42411000-42414400	Weak transcription	NHEK	skin
48	chr19:42411200-42412800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr19:42411200-42412800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr19:42411200-42414400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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