Variant report

Variant	rs147582946
Chromosome Location	chr19:39998611-39998612
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:39967682..39973021-chr19:39995906..39999826,6	K562	blood:
2	chr19:39996434..39999971-chr19:40007133..40012367,8	K562	blood:
3	chr19:39989819..39993497-chr19:39996220..39998915,4	K562	blood:
4	chr19:39922964..39925489-chr19:39998609..40000385,2	K562	blood:
5	chr19:39988036..39992269-chr19:39996706..39999798,3	K562	blood:
6	chr19:39992886..39995682-chr19:39996281..39999154,5	K562	blood:
7	chr19:39967682..39970182-chr19:39997915..39999826,2	K562	blood:

Variant related genes	Relation type
ENSG00000105197	Chromatin interaction
ENSG00000105193	Chromatin interaction
ENSG00000090932	Chromatin interaction

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	nsv911689	chr19:39903088-40021759	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv911690	chr19:39903088-40046863	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv911691	chr19:39979966-40029386	Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv911692	chr19:39979966-40046863	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv1060251	chr19:39982988-40099773	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	nsv911693	chr19:39986241-40033574	Flanking Bivalent TSS/Enh Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
7	esv3374976	chr19:39998161-40023263	Weak transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39997200-39999000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr19:39997400-39998800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr19:39997400-39998800	Active TSS	HSMM	muscle
4	chr19:39997400-39999000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr19:39997600-39998800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
6	chr19:39997600-39998800	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:39997600-39998800	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr19:39997600-39998800	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
9	chr19:39997600-39998800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
10	chr19:39997600-39999000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
11	chr19:39997600-39999000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
12	chr19:39997600-39999000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
13	chr19:39997600-39999000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr19:39998000-39998800	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr19:39998000-39998800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr19:39998000-39998800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr19:39998000-39998800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
18	chr19:39998000-39998800	Flanking Bivalent TSS/Enh	HepG2	liver
19	chr19:39998000-39998800	Flanking Bivalent TSS/Enh	NH-A	brain
20	chr19:39998200-39998800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
21	chr19:39998200-39998800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr19:39998200-39998800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr19:39998200-39998800	Flanking Active TSS	K562	blood
24	chr19:39998200-39999000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr19:39998400-39998800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
26	chr19:39998400-39998800	Enhancers	Primary B cells from peripheral blood	blood
27	chr19:39998400-39998800	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr19:39998400-39998800	Active TSS	Brain Anterior Caudate	brain
29	chr19:39998400-39998800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
30	chr19:39998400-39998800	Active TSS	Fetal Brain Male	brain
31	chr19:39998400-39998800	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr19:39998400-39998800	Bivalent Enhancer	Placenta	Placenta
33	chr19:39998400-39998800	Flanking Active TSS	GM12878-XiMat	blood
34	chr19:39998400-39999000	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
35	chr19:39998400-39999000	Flanking Active TSS	A549	lung
36	chr19:39998400-40005400	Weak transcription	Right Atrium	heart
37	chr19:39998600-39998800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
38	chr19:39998600-39998800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
39	chr19:39998600-39998800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
40	chr19:39998600-39998800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr19:39998600-39998800	Bivalent Enhancer	Primary B cells from cord blood	blood
42	chr19:39998600-39998800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
43	chr19:39998600-39998800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
44	chr19:39998600-39998800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr19:39998600-39998800	Bivalent/Poised TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr19:39998600-39998800	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr19:39998600-39998800	Bivalent/Poised TSS	Brain Angular Gyrus	brain
48	chr19:39998600-39998800	Active TSS	Brain Germinal Matrix	brain
49	chr19:39998600-39998800	Bivalent Enhancer	Duodenum Smooth Muscle	Duodenum
50	chr19:39998600-39998800	Bivalent Enhancer	Fetal Muscle Trunk	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links