Variant report

Variant	rs114415173
Chromosome Location	chr19:42902356-42902357
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:42902299-42902356	K562	blood:	n/a	n/a
2	BCL3	chr19:42900101-42902425	A549	lung:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:42746379..42748753-chr19:42901046..42902799,2	K562	blood:
2	chr19:42900633..42903687-chr19:42904617..42908034,6	MCF-7	breast:
3	chr19:42900819..42903655-chr19:42904775..42907143,2	MCF-7	breast:
4	chr19:42901625..42903508-chr19:42904581..42908984,3	K562	blood:
5	chr19:42895668..42898012-chr19:42901990..42905454,3	K562	blood:
6	chr19:42900679..42903538-chr19:42909669..42912049,2	K562	blood:
7	chr19:42894017..42895736-chr19:42900827..42903287,2	MCF-7	breast:
8	chr19:42805304..42808319-chr19:42899510..42903078,3	K562	blood:
9	chr19:42901013..42903466-chr19:42908156..42911805,3	MCF-7	breast:

No data

Variant related genes	Relation type
LIPE-AS1	TF binding region
ENSG00000204957	Chromatin interaction
ENSG00000079435	Chromatin interaction
ENSG00000188368	Chromatin interaction
ENSG00000105723	Chromatin interaction
ENSG00000213904	Chromatin interaction
ENSG00000079462	Chromatin interaction
ENSG00000105427	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
4	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
5	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
6	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
7	nsv911788	chr19:42887492-42930652	Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	nsv911789	chr19:42901430-42906725	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
9	nsv911790	chr19:42901430-42908074	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv911791	chr19:42901430-42909478	Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv911792	chr19:42901430-42929254	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
12	nsv911793	chr19:42901430-42929502	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
13	nsv911794	chr19:42901430-42930652	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
14	nsv911795	chr19:42901430-42932699	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42900400-42902400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr19:42900400-42902400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
3	chr19:42900400-42902400	Flanking Active TSS	NHEK	skin
4	chr19:42900600-42902400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr19:42900600-42902400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr19:42900600-42902400	Flanking Active TSS	HMEC	breast
7	chr19:42901400-42902400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:42901400-42902400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr19:42901400-42902400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
10	chr19:42901400-42902400	Flanking Active TSS	Dnd41	blood
11	chr19:42901400-42902400	Flanking Active TSS	Hela-S3	cervix
12	chr19:42901600-42902400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr19:42901600-42902400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr19:42901600-42902400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr19:42901600-42902400	Flanking Active TSS	Brain Angular Gyrus	brain
16	chr19:42901600-42902400	Flanking Active TSS	Brain Anterior Caudate	brain
17	chr19:42901600-42902400	Flanking Active TSS	Brain Hippocampus Middle	brain
18	chr19:42901600-42902400	Flanking Active TSS	Esophagus	oesophagus
19	chr19:42901600-42902400	Bivalent Enhancer	HepG2	liver
20	chr19:42901600-42902400	Flanking Active TSS	NH-A	brain
21	chr19:42901800-42902400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr19:42901800-42902400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr19:42901800-42902400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr19:42901800-42902400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr19:42901800-42902400	Flanking Active TSS	Fetal Brain Female	brain
26	chr19:42901800-42902400	Enhancers	Fetal Heart	heart
27	chr19:42901800-42902400	Enhancers	Placenta	Placenta
28	chr19:42901800-42902400	Enhancers	Spleen	Spleen
29	chr19:42901800-42902400	Flanking Active TSS	GM12878-XiMat	blood
30	chr19:42901800-42902600	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr19:42901800-42905400	Weak transcription	Aorta	Aorta
32	chr19:42902000-42902400	Flanking Active TSS	H9 Cell Line	embryonic stem cell
33	chr19:42902000-42902400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr19:42902000-42902400	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr19:42902000-42902400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr19:42902000-42902400	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr19:42902000-42902400	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr19:42902000-42902400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr19:42902000-42902400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr19:42902000-42902400	Bivalent Enhancer	Fetal Intestine Small	intestine
41	chr19:42902000-42902400	Enhancers	Ovary	ovary
42	chr19:42902000-42902400	Enhancers	Pancreas	Pancrea
43	chr19:42902000-42902600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr19:42902000-42902600	Enhancers	Right Ventricle	heart
45	chr19:42902000-42903200	Enhancers	Primary B cells from peripheral blood	blood
46	chr19:42902200-42902400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr19:42902200-42902400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:42902200-42902400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr19:42902200-42902400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
50	chr19:42902200-42902400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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