Variant report

Variant	rs75492157
Chromosome Location	chr19:44143122-44143123
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:44142549..44145039-chr19:44172421..44174578,2	MCF-7	breast:
2	chr19:44118551..44131201-chr19:44135615..44147023,20	K562	blood:
3	chr19:44121917..44126953-chr19:44140515..44144634,11	MCF-7	breast:
4	chr19:44131994..44133560-chr19:44140459..44143451,2	MCF-7	breast:
5	chr19:44122624..44125256-chr19:44141958..44145749,5	MCF-7	breast:
6	chr19:44141422..44143480-chr19:44195245..44198092,2	K562	blood:
7	chr19:44098885..44105672-chr19:44139703..44145307,6	MCF-7	breast:
8	chr19:44077932..44081099-chr19:44141868..44144910,3	MCF-7	breast:
9	chr19:44098824..44101950-chr19:44142073..44145770,3	K562	blood:
10	chr19:44140278..44143480-chr19:44195245..44198704,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000131116	Chromatin interaction
ENSG00000073050	Chromatin interaction
ENSG00000011422	Chromatin interaction
ENSG00000124444	Chromatin interaction
ENSG00000234465	Chromatin interaction
ENSG00000226763	Chromatin interaction
ENSG00000167378	Chromatin interaction
ENSG00000269583	Chromatin interaction
ENSG00000105767	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer 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	62 gene(s)	inside rSNPs	diseases
2	nsv833839	chr19:44099813-44272299	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv3324628	chr19:44142737-44145285	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
4	nsv579852	chr19:44142771-44149449	Flanking Active TSS Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
5	esv11178	chr19:44142913-44144340	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv3365982	chr19:44143062-44144960	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44124600-44143400	Weak transcription	Right Atrium	heart
2	chr19:44139800-44143400	Weak transcription	Ovary	ovary
3	chr19:44140000-44143200	Weak transcription	Right Ventricle	heart
4	chr19:44141200-44143200	Flanking Active TSS	Fetal Brain Female	brain
5	chr19:44141600-44144800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr19:44142200-44143200	Flanking Active TSS	Brain Germinal Matrix	brain
7	chr19:44142200-44143200	Flanking Active TSS	Brain Hippocampus Middle	brain
8	chr19:44142200-44143600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr19:44142200-44143600	Bivalent Enhancer	Fetal Thymus	thymus
10	chr19:44142400-44143200	Flanking Active TSS	Brain Cingulate Gyrus	brain
11	chr19:44142400-44143200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
12	chr19:44142400-44143200	Enhancers	Pancreas	Pancrea
13	chr19:44142600-44143200	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr19:44142600-44143200	Enhancers	Gastric	stomach
15	chr19:44142600-44143400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr19:44142600-44143400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr19:44142600-44143400	Flanking Active TSS	Brain Substantia Nigra	brain
18	chr19:44142600-44143400	Flanking Active TSS	Fetal Brain Male	brain
19	chr19:44142600-44143400	Bivalent Enhancer	GM12878-XiMat	blood
20	chr19:44142600-44143600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
21	chr19:44142600-44143600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
22	chr19:44142600-44143600	Flanking Active TSS	HepG2	liver
23	chr19:44142600-44144200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr19:44142600-44145000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
25	chr19:44142800-44143200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr19:44142800-44143200	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr19:44142800-44143200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr19:44142800-44143200	Bivalent Enhancer	Thymus	Thymus
29	chr19:44142800-44143400	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
30	chr19:44142800-44143400	Enhancers	Primary B cells from cord blood	blood
31	chr19:44142800-44143400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
32	chr19:44142800-44143400	Bivalent/Poised TSS	Colonic Mucosa	Colon
33	chr19:44142800-44143400	Enhancers	Esophagus	oesophagus
34	chr19:44142800-44143400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr19:44142800-44143400	Bivalent Enhancer	Fetal Muscle Leg	muscle
36	chr19:44142800-44143600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
37	chr19:44142800-44144200	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr19:44142800-44145000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
39	chr19:44142800-44145000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
40	chr19:44143000-44143200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr19:44143000-44143200	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
42	chr19:44143000-44143200	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr19:44143000-44143200	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
44	chr19:44143000-44143200	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
45	chr19:44143000-44143400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
46	chr19:44143000-44143400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
47	chr19:44143000-44143400	Bivalent Enhancer	Primary T cells from cord blood	blood
48	chr19:44143000-44143400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
49	chr19:44143000-44143400	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
50	chr19:44143000-44143400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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