Variant report

Variant	rs544674690
Chromosome Location	chr19:18145038-18145039
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:18094000..18095903-chr19:18144296..18146129,2	K562	blood:
2	chr19:17976091..17978002-chr19:18142609..18145534,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
4	nsv470130	chr19:18047283-18234587	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	esv1836842	chr19:18085428-18173603	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
6	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
7	nsv911235	chr19:18143862-18175853	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18135000-18145400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr19:18135200-18162000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr19:18135600-18146200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr19:18139600-18146800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:18141000-18145800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr19:18141000-18154400	Weak transcription	Right Ventricle	heart
7	chr19:18141200-18149400	Weak transcription	Right Atrium	heart
8	chr19:18142400-18146000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr19:18142600-18145800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr19:18142600-18151200	Weak transcription	Esophagus	oesophagus
11	chr19:18142600-18154200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr19:18142800-18145400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr19:18142800-18145600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr19:18142800-18145600	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr19:18142800-18145800	Weak transcription	Primary T cells from cord blood	blood
16	chr19:18142800-18145800	Weak transcription	Duodenum Mucosa	Duodenum
17	chr19:18142800-18145800	Weak transcription	Spleen	Spleen
18	chr19:18142800-18146000	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr19:18143400-18155200	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr19:18143800-18145800	Weak transcription	Fetal Thymus	thymus
21	chr19:18144000-18145400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr19:18144200-18155600	Weak transcription	Primary hematopoietic stem cells	blood
23	chr19:18144800-18146600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr19:18144800-18146800	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr19:18145000-18146600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr19:18145000-18146600	Enhancers	Hela-S3	cervix

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