Variant report

Variant	rs138204127
Chromosome Location	chr19:18169783-18169784
allele	A/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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18116678..18118349-chr19:18169310..18171624,2	MCF-7	breast:
2	chr19:18123288..18126278-chr19:18168683..18170920,3	K562	blood:
3	chr19:18129262..18132278-chr19:18167782..18169896,3	K562	blood:
4	chr19:18168352..18169931-chr19:18171627..18174496,2	K562	blood:
5	chr19:18112057..18114100-chr19:18169438..18171511,2	MCF-7	breast:
6	chr19:18117457..18120181-chr19:18166897..18171800,6	K562	blood:
7	chr19:17980924..17981724-chr19:18168905..18169800,4	K562	blood:
8	chr19:18116206..18122665-chr19:18167802..18171424,9	MCF-7	breast:
9	chr19:18117507..18118415-chr19:18168554..18169803,7	MCF-7	breast:
10	chr19:18117512..18118471-chr19:18168887..18169895,16	K562	blood:
11	chr19:18168077..18170768-chr19:18203861..18205779,2	K562	blood:
12	chr19:18117408..18118699-chr19:18168880..18170084,19	MCF-7	breast:
13	chr19:18167851..18170563-chr19:18548504..18551321,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105655	Chromatin interaction
ENSG00000105643	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 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
10	nsv911236	chr19:18169314-18175853	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
11	nsv911237	chr19:18169449-18193060	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18168400-18169800	Enhancers	Liver	Liver
2	chr19:18168400-18169800	Enhancers	Placenta	Placenta
3	chr19:18168400-18169800	Enhancers	GM12878-XiMat	blood
4	chr19:18168600-18169800	Enhancers	Primary T helper naive cells from peripheral blood	blood
5	chr19:18168600-18169800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr19:18168600-18169800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr19:18168600-18169800	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr19:18168600-18169800	Enhancers	Rectal Mucosa Donor 29	rectum
9	chr19:18168600-18169800	Enhancers	NHDF-Ad	bronchial
10	chr19:18168600-18170200	Enhancers	Primary B cells from cord blood	blood
11	chr19:18168800-18169800	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr19:18168800-18169800	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr19:18168800-18169800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr19:18168800-18169800	Enhancers	Primary T helper cells fromperipheralblood	blood
15	chr19:18168800-18169800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr19:18168800-18169800	Enhancers	Fetal Lung	lung
17	chr19:18169000-18169800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr19:18169000-18169800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr19:18169000-18169800	Active TSS	HUES48 Cell Line	embryonic stem cell
20	chr19:18169000-18169800	Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr19:18169000-18169800	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr19:18169000-18169800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr19:18169000-18169800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr19:18169000-18169800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr19:18169000-18169800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr19:18169000-18169800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr19:18169000-18169800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
28	chr19:18169000-18169800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr19:18169000-18169800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
30	chr19:18169000-18169800	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
31	chr19:18169000-18169800	Flanking Active TSS	Fetal Thymus	thymus
32	chr19:18169000-18169800	Enhancers	Right Atrium	heart
33	chr19:18169000-18169800	Enhancers	HUVEC	blood vessel
34	chr19:18169000-18169800	Flanking Active TSS	K562	blood
35	chr19:18169000-18169800	Enhancers	NHLF	lung
36	chr19:18169200-18169800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr19:18169200-18169800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr19:18169200-18169800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
39	chr19:18169200-18190000	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr19:18169400-18169800	Active TSS	H1 Cell Line	embryonic stem cell
41	chr19:18169400-18169800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr19:18169400-18169800	Enhancers	Primary monocytes fromperipheralblood	blood
43	chr19:18169400-18169800	Enhancers	Primary B cells from peripheral blood	blood
44	chr19:18169400-18169800	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr19:18169400-18169800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr19:18169400-18169800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr19:18169400-18169800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
48	chr19:18169400-18169800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr19:18169400-18169800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr19:18169400-18169800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links