Variant report

Variant	rs41290120
Chromosome Location	chr19:45382675-45382676
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:45382259-45383262	HepG2	liver:	n/a	n/a
2	POLR2A	chr19:45382554-45382753	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr19:45382444-45382696	K562	blood:	n/a	n/a
4	POLR2A	chr19:45382410-45382825	HepG2	liver:	n/a	n/a
5	POLR2A	chr19:45382390-45383105	K562	blood:	n/a	n/a
6	POLR2A	chr19:45382285-45383311	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45379713..45383483-chr19:45392090..45394912,6	MCF-7	breast:
2	chr19:45371836..45374441-chr19:45381288..45382864,3	MCF-7	breast:
3	chr19:45350952..45352629-chr19:45381643..45383597,2	MCF-7	breast:
4	chr19:45349770..45351599-chr19:45382137..45383883,2	MCF-7	breast:
5	chr19:45359780..45362423-chr19:45382618..45384526,2	MCF-7	breast:
6	chr19:45372550..45376273-chr19:45382475..45385600,3	K562	blood:
7	chr19:45348793..45350895-chr19:45382171..45384648,2	MCF-7	breast:
8	chr19:45376598..45379072-chr19:45380779..45384492,4	K562	blood:

No data

Variant related genes	Relation type
PVRL2	TF binding region
ENSG00000267282	Chromatin interaction
ENSG00000130204	Chromatin interaction
ENSG00000130202	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2927457	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534183	chr19:45351707-45385809	Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
2	nsv912129	chr19:45379791-45448465	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv912130	chr19:45382034-45448465	Bivalent Enhancer Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45367200-45392200	Strong transcription	Fetal Stomach	stomach
2	chr19:45368000-45383400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr19:45368200-45383400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:45369800-45393000	Weak transcription	Brain Angular Gyrus	brain
5	chr19:45373000-45393000	Weak transcription	Fetal Brain Male	brain
6	chr19:45373400-45383400	Strong transcription	H9 Cell Line	embryonic stem cell
7	chr19:45373800-45383600	Strong transcription	Liver	Liver
8	chr19:45374400-45383200	Strong transcription	Cortex derived primary cultured neurospheres	brain
9	chr19:45374400-45383800	Strong transcription	Stomach Smooth Muscle	stomach
10	chr19:45374600-45382800	Strong transcription	Brain Germinal Matrix	brain
11	chr19:45374600-45382800	Strong transcription	Ovary	ovary
12	chr19:45374800-45383200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr19:45374800-45383400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr19:45375000-45383000	Strong transcription	Gastric	stomach
15	chr19:45375000-45383200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:45375000-45383600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:45375600-45383200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr19:45375600-45392800	Weak transcription	Hela-S3	cervix
19	chr19:45376000-45393000	Weak transcription	NHDF-Ad	bronchial
20	chr19:45376400-45389600	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:45376600-45383200	Strong transcription	Right Ventricle	heart
22	chr19:45377000-45391000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr19:45377200-45383400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr19:45378200-45383200	Genic enhancers	Esophagus	oesophagus
25	chr19:45378200-45393000	Weak transcription	Brain Substantia Nigra	brain
26	chr19:45378400-45391000	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr19:45378400-45393000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr19:45378600-45391000	Weak transcription	Brain Cingulate Gyrus	brain
29	chr19:45378600-45391000	Weak transcription	Stomach Mucosa	stomach
30	chr19:45379200-45393000	Weak transcription	Brain Anterior Caudate	brain
31	chr19:45379400-45383200	Genic enhancers	A549	lung
32	chr19:45379400-45383400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr19:45379400-45393000	Weak transcription	Monocytes-CD14+_RO01746	blood
34	chr19:45379600-45383400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr19:45379600-45393000	Weak transcription	HMEC	breast
36	chr19:45379800-45383000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr19:45379800-45383200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr19:45379800-45383600	Strong transcription	HSMM	muscle
39	chr19:45379800-45387800	Weak transcription	Fetal Lung	lung
40	chr19:45379800-45389000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr19:45379800-45393000	Weak transcription	Primary monocytes fromperipheralblood	blood
42	chr19:45379800-45393000	Weak transcription	K562	blood
43	chr19:45379800-45393200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr19:45380000-45382800	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr19:45380000-45382800	Weak transcription	HUVEC	blood vessel
46	chr19:45380000-45391000	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr19:45380200-45383400	Genic enhancers	iPS-15b Cell Line	embryonic stem cell
48	chr19:45380200-45383400	Strong transcription	NHLF	lung
49	chr19:45380200-45383600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr19:45380400-45383200	Genic enhancers	H1 Cell Line	embryonic stem cell

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