Variant report

Variant	rs563250880
Chromosome Location	chr19:18169014-18169015
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18108637..18109581-chr19:18168824..18169425,2	K562	blood:
2	chr19:18110512..18113596-chr19:18166649..18169173,4	MCF-7	breast:
3	chr19:18118499..18119082-chr19:18168902..18169511,2	K562	blood:
4	chr19:18123288..18126278-chr19:18168683..18170920,3	K562	blood:
5	chr1:46152203..46153086-chr19:18168643..18169301,2	HCT-116	colon:
6	chr19:18129262..18132278-chr19:18167782..18169896,3	K562	blood:
7	chr19:18168352..18169931-chr19:18171627..18174496,2	K562	blood:
8	chr19:18117457..18120181-chr19:18166897..18171800,6	K562	blood:
9	chr19:17980924..17981724-chr19:18168905..18169800,4	K562	blood:
10	chr19:18116206..18122665-chr19:18167802..18171424,9	MCF-7	breast:
11	chr19:18117507..18118415-chr19:18168554..18169803,7	MCF-7	breast:
12	chr19:18117512..18118471-chr19:18168887..18169895,16	K562	blood:
13	chr19:18164213..18165777-chr19:18168109..18169737,2	K562	blood:
14	chr19:18162504..18164365-chr19:18167164..18169094,2	MCF-7	breast:
15	chr19:18168077..18170768-chr19:18203861..18205779,2	K562	blood:
16	chr19:18116444..18119992-chr19:18166897..18169714,4	K562	blood:
17	chr19:18048789..18049868-chr19:18168630..18169412,4	K562	blood:
18	chr19:18117408..18118699-chr19:18168880..18170084,19	MCF-7	breast:
19	chr19:18167851..18170563-chr19:18548504..18551321,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000159592	Chromatin interaction
ENSG00000105655	Chromatin interaction
ENSG00000105643	Chromatin interaction
ENSG00000159596	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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
8	nsv833773	chr19:18152971-18302988	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv578742	chr19:18168674-18181779	Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Weak transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18163000-18169600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr19:18168400-18169200	Flanking Active TSS	Brain Substantia Nigra	brain
3	chr19:18168400-18169200	Enhancers	Stomach Smooth Muscle	stomach
4	chr19:18168400-18169600	Enhancers	Esophagus	oesophagus
5	chr19:18168400-18169600	Enhancers	Gastric	stomach
6	chr19:18168400-18169600	Enhancers	Spleen	Spleen
7	chr19:18168400-18169800	Enhancers	Liver	Liver
8	chr19:18168400-18169800	Enhancers	Placenta	Placenta
9	chr19:18168400-18169800	Enhancers	GM12878-XiMat	blood
10	chr19:18168600-18169200	Enhancers	Colonic Mucosa	Colon
11	chr19:18168600-18169400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr19:18168600-18169400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr19:18168600-18169400	Enhancers	Brain Angular Gyrus	brain
14	chr19:18168600-18169600	Flanking Active TSS	Brain Hippocampus Middle	brain
15	chr19:18168600-18169600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr19:18168600-18169600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
17	chr19:18168600-18169800	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr19:18168600-18169800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr19:18168600-18169800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
20	chr19:18168600-18169800	Enhancers	Primary T killer memory cells from peripheral blood	blood
21	chr19:18168600-18169800	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr19:18168600-18169800	Enhancers	NHDF-Ad	bronchial
23	chr19:18168600-18170200	Enhancers	Primary B cells from cord blood	blood
24	chr19:18168800-18169200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr19:18168800-18169200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr19:18168800-18169200	Flanking Active TSS	Hela-S3	cervix
27	chr19:18168800-18169400	Flanking Active TSS	Adipose Nuclei	Adipose
28	chr19:18168800-18169400	Flanking Active TSS	Duodenum Mucosa	Duodenum
29	chr19:18168800-18169400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr19:18168800-18169600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
31	chr19:18168800-18169600	Enhancers	Primary T helper cells PMA-I stimulated	--
32	chr19:18168800-18169600	Flanking Active TSS	HepG2	liver
33	chr19:18168800-18169800	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr19:18168800-18169800	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr19:18168800-18169800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
36	chr19:18168800-18169800	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr19:18168800-18169800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr19:18168800-18169800	Enhancers	Fetal Lung	lung
39	chr19:18169000-18169200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr19:18169000-18169200	Flanking Active TSS	Primary hematopoietic stem cells	blood
41	chr19:18169000-18169200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
42	chr19:18169000-18169200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr19:18169000-18169200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr19:18169000-18169200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr19:18169000-18169200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr19:18169000-18169200	Flanking Active TSS	Brain Anterior Caudate	brain
47	chr19:18169000-18169200	Flanking Active TSS	Brain Cingulate Gyrus	brain
48	chr19:18169000-18169200	Flanking Active TSS	Brain Germinal Matrix	brain
49	chr19:18169000-18169200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr19:18169000-18169200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland

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