Variant report

Variant	rs113898508
Chromosome Location	chr19:18530946-18530947
allele	G/T
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18313264..18315629-chr19:18528906..18531425,2	MCF-7	breast:
2	chr19:18385043..18394940-chr19:18518893..18533267,53	K562	blood:
3	chr19:18520199..18523408-chr19:18523976..18531789,10	MCF-7	breast:
4	chr19:18313916..18318092-chr19:18528402..18531529,5	K562	blood:
5	chr19:18495547..18503463-chr19:18525062..18531964,43	K562	blood:
6	chr19:18385174..18387255-chr19:18528960..18531893,2	MCF-7	breast:
7	chr19:18530114..18532262-chr19:18631255..18634040,2	MCF-7	breast:
8	chr19:18529108..18532626-chr19:18559227..18562569,3	MCF-7	breast:
9	chr19:18450514..18452261-chr19:18530273..18532416,2	K562	blood:
10	chr19:18449803..18452751-chr19:18530696..18534160,4	MCF-7	breast:
11	chr19:18527431..18533703-chr19:18536573..18544512,11	MCF-7	breast:
12	chr19:18388809..18393836-chr19:18524501..18532718,14	MCF-7	breast:
13	chr19:18383365..18408325-chr19:18518460..18533256,66	K562	blood:
14	chr19:18496651..18498456-chr19:18529986..18531636,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000130513	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000105656	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000268650	Chromatin interaction
ENSG00000130511	Chromatin interaction
ENSG00000130517	Chromatin interaction
ENSG00000221167	Chromatin interaction
ENSG00000241464	Chromatin interaction
ENSG00000105649	Chromatin interaction
ENSG00000130518	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	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
2	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
3	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
4	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' 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
6	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
7	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
8	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
9	nsv911276	chr19:18497141-18554972	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
10	nsv911277	chr19:18520231-18552139	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	nsv1060687	chr19:18522527-18643218	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
12	nsv911278	chr19:18526536-18550276	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases
13	esv3399036	chr19:18529177-18531725	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
14	esv3391441	chr19:18529402-18531925	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18528000-18532200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:18529600-18532000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr19:18529800-18531000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr19:18529800-18531200	Active TSS	Aorta	Aorta
5	chr19:18529800-18531400	Active TSS	H9 Cell Line	embryonic stem cell
6	chr19:18529800-18531600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:18530000-18531000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr19:18530000-18531000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr19:18530000-18531000	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr19:18530000-18531000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr19:18530000-18531000	Active TSS	Cortex derived primary cultured neurospheres	brain
12	chr19:18530000-18531000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr19:18530000-18531000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr19:18530000-18531000	Enhancers	Fetal Brain Male	brain
15	chr19:18530000-18531000	Active TSS	Fetal Stomach	stomach
16	chr19:18530000-18531000	Active TSS	Rectal Mucosa Donor 31	rectum
17	chr19:18530000-18531000	Active TSS	Rectal Smooth Muscle	rectum
18	chr19:18530000-18531000	Active TSS	Osteobl	bone
19	chr19:18530000-18531200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr19:18530000-18531200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr19:18530000-18531200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
22	chr19:18530000-18531200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
23	chr19:18530000-18531200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr19:18530000-18531200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr19:18530000-18531200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr19:18530000-18531200	Active TSS	Primary T killer memory cells from peripheral blood	blood
27	chr19:18530000-18531200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr19:18530000-18531200	Active TSS	Muscle Satellite Cultured Cells	--
29	chr19:18530000-18531200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr19:18530000-18531200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr19:18530000-18531200	Active TSS	Brain Substantia Nigra	brain
32	chr19:18530000-18531200	Active TSS	Duodenum Mucosa	Duodenum
33	chr19:18530000-18531200	Active TSS	Fetal Brain Female	brain
34	chr19:18530000-18531200	Active TSS	Gastric	stomach
35	chr19:18530000-18531200	Active TSS	Sigmoid Colon	Sigmoid Colon
36	chr19:18530000-18531200	Active TSS	Small Intestine	intestine
37	chr19:18530000-18531200	Active TSS	GM12878-XiMat	blood
38	chr19:18530000-18531200	Active TSS	HepG2	liver
39	chr19:18530000-18531200	Active TSS	K562	blood
40	chr19:18530000-18531400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr19:18530000-18531400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
42	chr19:18530000-18531400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
43	chr19:18530000-18531400	Active TSS	Primary T cells from cord blood	blood
44	chr19:18530000-18531400	Active TSS	Colon Smooth Muscle	Colon
45	chr19:18530000-18531400	Active TSS	Fetal Intestine Large	intestine
46	chr19:18530000-18531400	Active TSS	Fetal Lung	lung
47	chr19:18530000-18531400	Active TSS	Left Ventricle	heart
48	chr19:18530000-18531400	Flanking Active TSS	Thymus	Thymus
49	chr19:18530000-18531600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr19:18530000-18531600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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