Variant report

Variant	rs550447386
Chromosome Location	chr19:42655616-42655617
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:42637467..42639958-chr19:42655393..42657223,2	K562	blood:

Variant related genes	Relation type
ENSG00000254887	Chromatin interaction
ENSG00000266226	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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	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
5	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
7	esv3342196	chr19:42653537-42656085	Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	esv3339751	chr19:42653812-42655910	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv820069	chr19:42654429-42657475	Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42637600-42658200	Weak transcription	Right Atrium	heart
2	chr19:42640200-42659400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr19:42652600-42658800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr19:42653000-42656000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr19:42653200-42661200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr19:42653400-42655800	Enhancers	H1 Cell Line	embryonic stem cell
7	chr19:42653400-42656400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr19:42653600-42655800	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr19:42653600-42656400	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr19:42653600-42659000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr19:42653800-42656400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr19:42653800-42657400	Enhancers	Fetal Brain Female	brain
13	chr19:42653800-42658000	Enhancers	Pancreas	Pancrea
14	chr19:42653800-42658600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr19:42653800-42658600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr19:42653800-42660600	Enhancers	Fetal Brain Male	brain
17	chr19:42654000-42656400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr19:42654200-42656400	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr19:42654200-42657800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr19:42654200-42658600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr19:42654400-42656200	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr19:42654400-42658400	Weak transcription	Primary T helper cells PMA-I stimulated	--
23	chr19:42654400-42658400	Weak transcription	Primary T helper cells fromperipheralblood	blood
24	chr19:42654600-42656200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:42654800-42656200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:42654800-42658000	Enhancers	Liver	Liver
27	chr19:42655000-42655800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:42655000-42656000	Enhancers	A549	lung
29	chr19:42655000-42656400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
30	chr19:42655000-42656400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
31	chr19:42655000-42656400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
32	chr19:42655200-42655800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr19:42655200-42657400	Enhancers	Brain Germinal Matrix	brain
34	chr19:42655400-42656200	Enhancers	H9 Cell Line	embryonic stem cell
35	chr19:42655400-42656400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
36	chr19:42655600-42656000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr19:42655600-42657800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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