Variant report

Variant	rs559234686
Chromosome Location	chr19:22035483-22035484
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	MXI1	chr19:22033396-22035550	SK-N-SH	brain:	n/a	n/a
2	KAP1	chr19:22034455-22035532	HEK293	kidney:	n/a	n/a
3	REST	chr19:22034030-22035487	H1-neurons	neurons:	n/a	chr19:22034600-22034613 chr19:22034556-22034569
4	MAX	chr19:22034491-22035572	NB4	blood:	n/a	chr19:22035516-22035525 chr19:22035025-22035035

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21950144..21952867-chr19:22033592..22036117,2	MCF-7	breast:
2	chr19:21686874..21688868-chr19:22034996..22036556,2	MCF-7	breast:

Variant related genes	Relation type
ZNF43	TF binding region
ENSG00000197013	Chromatin interaction
ENSG00000197020	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3441368	chr19:21781459-22182822	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3339694	chr19:21781479-22182792	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1063115	chr19:21782104-22528039	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv911424	chr19:21798441-22471156	Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv911425	chr19:21841379-22338142	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv833784	chr19:21902647-22037153	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1059079	chr19:21940891-22083420	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3395280	chr19:21968753-22202288	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv911428	chr19:21986292-22106951	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv911429	chr19:21986292-22110219	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv911430	chr19:22008229-22106951	ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1062497	chr19:22013911-22102714	Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv543949	chr19:22013911-22102714	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv917200	chr19:22020157-22101914	Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv911431	chr19:22026279-22106951	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv911432	chr19:22026279-22110219	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	esv3584735	chr19:22031685-22108201	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
18	nsv961195	chr19:22035429-22051358	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22033800-22035600	Active TSS	Brain Hippocampus Middle	brain
2	chr19:22034000-22035600	Active TSS	A549	lung
3	chr19:22035000-22035600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
4	chr19:22035000-22035600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr19:22035000-22035600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
6	chr19:22035000-22035600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:22035000-22035600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:22035000-22035600	Flanking Active TSS	Colon Smooth Muscle	Colon
9	chr19:22035000-22035600	Flanking Active TSS	Dnd41	blood
10	chr19:22035200-22035600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr19:22035200-22035600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:22035400-22035600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr19:22035400-22035600	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr19:22035400-22035600	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr19:22035400-22035600	Enhancers	Primary B cells from peripheral blood	blood
16	chr19:22035400-22035600	Enhancers	Primary T cells fromperipheralblood	blood
17	chr19:22035400-22035600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
18	chr19:22035400-22035600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr19:22035400-22035600	Enhancers	Primary T helper cells fromperipheralblood	blood
20	chr19:22035400-22035600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
21	chr19:22035400-22035600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr19:22035400-22035600	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr19:22035400-22035600	Enhancers	Brain Angular Gyrus	brain
24	chr19:22035400-22035600	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
25	chr19:22035400-22035800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr19:22035400-22037000	Weak transcription	Placenta	Placenta
27	chr19:22035400-22041600	Weak transcription	Fetal Kidney	kidney

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