Variant report

Variant	rs528963000
Chromosome Location	chr19:39392256-39392257
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:39392116-39392313	HepG2	liver:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

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	chr19:39386472..39392494-chr19:39418718..39424791,9	K562	blood:
7	chr19:39389410..39392783-chr19:39420988..39423307,4	MCF-7	breast:
8	chr19:39338023..39344706-chr19:39388476..39392998,12	MCF-7	breast:
9	chr19:39391259..39393276-chr19:39393440..39395044,2	MCF-7	breast:
10	chr19:39338478..39344219-chr19:39387112..39393304,19	K562	blood:

No data

Variant related genes	Relation type
SIRT2	TF binding region
ENSG00000104823	Chromatin interaction
ENSG00000128626	Chromatin interaction
ENSG00000104824	Chromatin interaction
ENSG00000104835	Chromatin interaction
ENSG00000262484	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39391000-39394800	Weak transcription	Spleen	Spleen
2	chr19:39391000-39395000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr19:39391000-39395800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr19:39391200-39392400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr19:39391200-39392400	Flanking Active TSS	Dnd41	blood
6	chr19:39391200-39392600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr19:39391200-39392600	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr19:39391200-39394800	Weak transcription	Gastric	stomach
9	chr19:39391200-39395000	Weak transcription	Fetal Muscle Trunk	muscle
10	chr19:39391200-39395200	Weak transcription	Pancreas	Pancrea
11	chr19:39391200-39395400	Weak transcription	Aorta	Aorta
12	chr19:39391200-39395400	Weak transcription	Esophagus	oesophagus
13	chr19:39391200-39395600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr19:39391200-39420800	Weak transcription	Small Intestine	intestine
15	chr19:39391400-39392400	Enhancers	Primary T cells fromperipheralblood	blood
16	chr19:39391400-39392400	Flanking Active TSS	Hela-S3	cervix
17	chr19:39391400-39392600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr19:39391400-39392600	Enhancers	Placenta	Placenta
19	chr19:39391400-39392600	Enhancers	Stomach Mucosa	stomach
20	chr19:39391400-39395200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr19:39391400-39395600	Weak transcription	Brain Germinal Matrix	brain
22	chr19:39391400-39397400	Weak transcription	Fetal Brain Female	brain
23	chr19:39391400-39397600	Weak transcription	Psoas Muscle	Psoas
24	chr19:39391400-39402200	Weak transcription	Fetal Brain Male	brain
25	chr19:39391600-39392400	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr19:39391600-39392400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
27	chr19:39391600-39394800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr19:39391600-39395000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr19:39391600-39395000	Weak transcription	NHDF-Ad	bronchial
30	chr19:39391600-39395200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr19:39391600-39395200	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr19:39391600-39395200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr19:39391600-39395200	Weak transcription	Colonic Mucosa	Colon
34	chr19:39391600-39395200	Weak transcription	Ovary	ovary
35	chr19:39391600-39395200	Weak transcription	Right Ventricle	heart
36	chr19:39391600-39397800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr19:39391600-39414800	Weak transcription	HMEC	breast
38	chr19:39391600-39420600	Weak transcription	Right Atrium	heart
39	chr19:39391800-39392400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr19:39391800-39392400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr19:39391800-39392400	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr19:39391800-39392400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr19:39391800-39392400	Enhancers	Primary T helper cells PMA-I stimulated	--
44	chr19:39391800-39392400	Enhancers	Fetal Intestine Large	intestine
45	chr19:39391800-39392600	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr19:39391800-39392600	Enhancers	Primary T cells from cord blood	blood
47	chr19:39391800-39392600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr19:39391800-39392600	Enhancers	Brain Anterior Caudate	brain
49	chr19:39391800-39392600	Enhancers	HepG2	liver
50	chr19:39391800-39392600	Enhancers	Monocytes-CD14+_RO01746	blood

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