Variant report

Variant	rs12978012
Chromosome Location	chr19:40883337-40883338
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:40877080..40879166-chr19:40881105..40883864,2	MCF-7	breast:
2	chr19:40872240..40873973-chr19:40882953..40885415,2	MCF-7	breast:
3	chr19:40853787..40856715-chr19:40882110..40885015,2	K562	blood:
4	chr19:40871826..40875683-chr19:40883249..40885550,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160392	Chromatin interaction
ENSG00000105223	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1968359	0.80[ASN][1000 genomes]
rs4803329	0.83[ASN][1000 genomes]
rs4803331	0.83[ASN][1000 genomes]
rs6508938	0.80[ASN][1000 genomes]

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	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv833831	chr19:40796740-40960865	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv911706	chr19:40842529-40969203	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer 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 miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
5	nsv911707	chr19:40855255-40948202	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
6	nsv911708	chr19:40855255-40982375	Weak transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
7	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40864000-40884400	Weak transcription	HepG2	liver
2	chr19:40872200-40887000	Strong transcription	Liver	Liver
3	chr19:40872200-40887400	Weak transcription	Primary B cells from cord blood	blood
4	chr19:40872200-40887400	Weak transcription	Stomach Mucosa	stomach
5	chr19:40872400-40885600	Weak transcription	NHDF-Ad	bronchial
6	chr19:40872400-40886200	Weak transcription	HUVEC	blood vessel
7	chr19:40872600-40884400	Strong transcription	Adipose Nuclei	Adipose
8	chr19:40872800-40883800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr19:40872800-40883800	Weak transcription	Hela-S3	cervix
10	chr19:40872800-40886600	Strong transcription	Brain Hippocampus Middle	brain
11	chr19:40872800-40904400	Weak transcription	Right Atrium	heart
12	chr19:40873000-40885400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr19:40873000-40885600	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr19:40873000-40886600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr19:40873000-40887000	Strong transcription	Primary T cells from cord blood	blood
16	chr19:40873000-40887000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr19:40873000-40887400	Strong transcription	Duodenum Smooth Muscle	Duodenum
18	chr19:40873000-40887800	Strong transcription	Stomach Smooth Muscle	stomach
19	chr19:40873200-40885800	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr19:40873400-40887200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr19:40873400-40887400	Strong transcription	Fetal Brain Female	brain
22	chr19:40873600-40886800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr19:40873800-40885000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr19:40873800-40885200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr19:40873800-40886000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr19:40873800-40887800	Strong transcription	Fetal Stomach	stomach
27	chr19:40873800-40890800	Weak transcription	Fetal Heart	heart
28	chr19:40874000-40884000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr19:40874000-40885000	Strong transcription	Fetal Lung	lung
30	chr19:40874200-40886400	Weak transcription	Dnd41	blood
31	chr19:40874200-40887200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:40874400-40887400	Strong transcription	Brain Germinal Matrix	brain
33	chr19:40874600-40887400	Strong transcription	Skeletal Muscle Male	skeletal muscle
34	chr19:40874600-40890200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr19:40875600-40887200	Strong transcription	Fetal Muscle Leg	muscle
36	chr19:40875800-40886200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr19:40875800-40887000	Strong transcription	Placenta Amnion	Placenta Amnion
38	chr19:40876200-40886600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:40876200-40886600	Weak transcription	NH-A	brain
40	chr19:40876200-40888200	Strong transcription	Fetal Muscle Trunk	muscle
41	chr19:40876800-40887200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr19:40877000-40885000	Strong transcription	Aorta	Aorta
43	chr19:40877200-40883800	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr19:40877400-40883400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr19:40877400-40886800	Strong transcription	Placenta	Placenta
46	chr19:40877400-40887400	Strong transcription	Fetal Intestine Small	intestine
47	chr19:40877800-40885800	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr19:40878000-40886400	Strong transcription	Fetal Intestine Large	intestine
49	chr19:40879000-40885800	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr19:40879000-40889000	Weak transcription	K562	blood

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