Variant report

Variant	rs11083729
Chromosome Location	chr19:44502206-44502207
allele	G/T
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	NFYB	chr19:44502068-44502329	K562	blood:	n/a	n/a
2	NFYB	chr19:44502158-44502358	GM12878	blood:	n/a	n/a
3	FOS	chr19:44502168-44502373	MCF10A-Er-Src	breast:	n/a	chr19:44502256-44502267
4	JUND	chr19:44502178-44502337	K562	blood:	n/a	n/a
5	FOS	chr19:44502131-44502401	HUVEC	blood vessel:	n/a	chr19:44502256-44502267
6	POLR2A	chr19:44502120-44502475	PFSK-1	brain:	n/a	n/a
7	FOS	chr19:44502145-44502412	MCF10A-Er-Src	breast:	n/a	chr19:44502256-44502267
8	FOS	chr19:44502151-44502351	MCF10A-Er-Src	breast:	n/a	chr19:44502256-44502267

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44501460..44503364-chr19:44505726..44508056,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF45-2	chr19:44501048-44503384	ENSG00000266921.1
2	lnc-ZNF45-2	chr19:44501048-44502536	NONHSAT066650

Variant related genes	Relation type
ZNF230	TF binding region
ENSG00000266921	Chromatin interaction
ENSG00000159882	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469650	chr19:44405994-44555426	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv1970688	chr19:44501975-44502420	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44489200-44506200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr19:44489200-44506200	Weak transcription	Hela-S3	cervix
3	chr19:44489600-44506200	Weak transcription	HepG2	liver
4	chr19:44491000-44503400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:44491000-44503800	ZNF genes & repeats	Liver	Liver
6	chr19:44491400-44503400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
7	chr19:44492400-44502400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr19:44492400-44502400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr19:44492400-44502600	Strong transcription	Fetal Muscle Trunk	muscle
10	chr19:44492600-44502400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr19:44492600-44502400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:44492600-44502600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:44493400-44502400	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr19:44496600-44503200	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
15	chr19:44496600-44506200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr19:44497000-44506400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr19:44497000-44506600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr19:44498400-44502400	Strong transcription	Psoas Muscle	Psoas
19	chr19:44499000-44502400	ZNF genes & repeats	Fetal Intestine Small	intestine
20	chr19:44499200-44506200	Weak transcription	Fetal Heart	heart
21	chr19:44499200-44506200	Weak transcription	NHDF-Ad	bronchial
22	chr19:44499200-44506200	Weak transcription	NHLF	lung
23	chr19:44500000-44502400	Strong transcription	Fetal Brain Female	brain
24	chr19:44500200-44502400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr19:44500200-44502400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
26	chr19:44500200-44502400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr19:44500200-44502600	ZNF genes & repeats	Adipose Nuclei	Adipose
28	chr19:44501000-44506200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr19:44501000-44506200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr19:44501000-44506200	Weak transcription	Brain Anterior Caudate	brain
31	chr19:44501000-44506400	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr19:44501000-44506400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr19:44501200-44506000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
34	chr19:44501200-44506000	Weak transcription	Spleen	Spleen
35	chr19:44501200-44506200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr19:44501200-44506200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr19:44501200-44506200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr19:44501200-44506200	Weak transcription	Brain Angular Gyrus	brain
39	chr19:44501200-44506200	Weak transcription	HUVEC	blood vessel
40	chr19:44501200-44506400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr19:44501200-44506400	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr19:44501200-44506400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr19:44501200-44506400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr19:44501400-44502600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr19:44501400-44503200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr19:44501400-44506200	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr19:44501400-44506200	Weak transcription	Primary B cells from cord blood	blood
48	chr19:44501400-44506200	Weak transcription	Muscle Satellite Cultured Cells	--
49	chr19:44501400-44506200	Weak transcription	Fetal Kidney	kidney
50	chr19:44501400-44506200	Weak transcription	Rectal Mucosa Donor 31	rectum

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