Variant report

Variant	rs539435483
Chromosome Location	chr19:39391769-39391770
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	GATA2	chr19:39391502-39391910	HUVEC	blood vessel:	n/a	n/a
2	CEBPB	chr19:39391510-39391882	K562	blood:	n/a	chr19:39391678-39391689
3	CEBPB	chr19:39391561-39391868	IMR90	lung:	n/a	chr19:39391678-39391689
4	HCFC1	chr19:39389667-39391967	Hela-S3	cervix:	n/a	n/a
5	GATA3	chr19:39391205-39391873	SH-SY5Y	brain:	n/a	chr19:39391697-39391705
6	CEBPB	chr19:39391561-39391867	A549	lung:	n/a	chr19:39391678-39391689
7	CEBPB	chr19:39391532-39391856	K562	blood:	n/a	chr19:39391678-39391689
8	JUN	chr19:39389766-39391981	K562	blood:	n/a	chr19:39390500-39390509 chr19:39391294-39391306
9	CUX1	chr19:39390999-39391863	K562	blood:	n/a	n/a
10	CEBPB	chr19:39391563-39391879	Hela-S3	cervix:	n/a	chr19:39391678-39391689
11	SREBP1	chr19:39389738-39391854	GM12878	blood:	n/a	n/a
12	CEBPB	chr19:39391628-39391872	HepG2	liver:	n/a	chr19:39391678-39391689
13	GATA1	chr19:39389861-39391860	PBDE	blood:	n/a	chr19:39390295-39390304
14	FOXA1	chr19:39391253-39391870	HepG2	liver:	n/a	n/a
15	GATA2	chr19:39391668-39391857	SH-SY5Y	brain:	n/a	n/a
16	CEBPB	chr19:39391727-39391847	HepG2	liver:	n/a	n/a
17	GATA3	chr19:39389595-39391907	A549	lung:	n/a	chr19:39389669-39389679 chr19:39391697-39391705 chr19:39390295-39390304
18	FOXA2	chr19:39391650-39391843	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:39338733..39343337-chr19:39388774..39392675,12	K562	blood:
2	chr19:39390700..39392797-chr19:39401919..39404314,3	K562	blood:
3	chr19:39320984..39323718-chr19:39390338..39392657,3	K562	blood:
4	chr19:39388836..39392687-chr19:39409083..39412619,5	K562	blood:
5	chr19:39390131..39392480-chr19:39402477..39404053,2	MCF-7	breast:
6	chr19:39388885..39392214-chr19:39419332..39422757,5	MCF-7	breast:
7	chr19:39386472..39392494-chr19:39418718..39424791,9	K562	blood:
8	chr19:39389410..39392783-chr19:39420988..39423307,4	MCF-7	breast:
9	chr19:39338023..39344706-chr19:39388476..39392998,12	MCF-7	breast:
10	chr19:39391259..39393276-chr19:39393440..39395044,2	MCF-7	breast:
11	chr19:39390485..39392144-chr19:39409724..39411734,2	MCF-7	breast:
12	chr19:39338478..39344219-chr19:39387112..39393304,19	K562	blood:

Variant related genes	Relation type
SIRT2	TF binding region
ENSG00000104824	Chromatin interaction
ENSG00000104823	Chromatin interaction
ENSG00000262484	Chromatin interaction
ENSG00000128626	Chromatin interaction
ENSG00000104835	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	esv1837023	chr19:39190588-39425722	Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	esv1798153	chr19:39338663-39399277	Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv911674	chr19:39391547-39398631	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39389400-39391800	Active TSS	NHLF	lung
2	chr19:39389600-39391800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:39389600-39391800	Active TSS	iPS-18 Cell Line	embryonic stem cell
4	chr19:39389600-39391800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr19:39389600-39391800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr19:39389800-39392000	Active TSS	NHEK	skin
7	chr19:39390000-39391800	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr19:39390000-39391800	Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr19:39390000-39391800	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr19:39390800-39391800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr19:39390800-39391800	Flanking Active TSS	NH-A	brain
12	chr19:39390800-39391800	Flanking Active TSS	Osteobl	bone
13	chr19:39391000-39391800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr19:39391000-39391800	Flanking Active TSS	Primary T cells from cord blood	blood
15	chr19:39391000-39391800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr19:39391000-39391800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr19:39391000-39391800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr19:39391000-39391800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr19:39391000-39391800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr19:39391000-39391800	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr19:39391000-39391800	Flanking Active TSS	Brain Anterior Caudate	brain
22	chr19:39391000-39391800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
23	chr19:39391000-39391800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr19:39391000-39391800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
25	chr19:39391000-39391800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr19:39391000-39392000	Flanking Active TSS	HUVEC	blood vessel
27	chr19:39391000-39394800	Weak transcription	Spleen	Spleen
28	chr19:39391000-39395000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr19:39391000-39395800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr19:39391200-39391800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr19:39391200-39391800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr19:39391200-39391800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
33	chr19:39391200-39391800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr19:39391200-39391800	Enhancers	Brain Substantia Nigra	brain
35	chr19:39391200-39391800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr19:39391200-39391800	Active TSS	Fetal Muscle Leg	muscle
37	chr19:39391200-39391800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr19:39391200-39392000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:39391200-39392000	Flanking Active TSS	Liver	Liver
40	chr19:39391200-39392000	Weak transcription	Left Ventricle	heart
41	chr19:39391200-39392000	Weak transcription	Lung	lung
42	chr19:39391200-39392200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr19:39391200-39392200	Enhancers	Primary neutrophils fromperipheralblood	blood
44	chr19:39391200-39392200	Enhancers	Primary B cells from peripheral blood	blood
45	chr19:39391200-39392400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr19:39391200-39392400	Flanking Active TSS	Dnd41	blood
47	chr19:39391200-39392600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr19:39391200-39392600	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr19:39391200-39394800	Weak transcription	Gastric	stomach
50	chr19:39391200-39395000	Weak transcription	Fetal Muscle Trunk	muscle

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