Variant report

Variant	rs569664312
Chromosome Location	chr2:47995318-47995319
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:47748123..47749357-chr2:47994786..47995698,3	MCF-7	breast:
2	chr2:47663402..47665141-chr2:47994504..47995700,15	MCF-7	breast:
3	chr2:47663794..47664989-chr2:47994770..47995591,3	MCF-7	breast:
4	chr2:47891704..47892615-chr2:47994816..47995721,2	MCF-7	breast:

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873999	chr2:47916074-48019485	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv998096	chr2:47939614-48131697	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	esv3451194	chr2:47995229-47997200	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47983400-48009600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:47991000-48009600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:47993000-48009400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:47993200-47995400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:47994200-47995400	Enhancers	Placenta	Placenta
6	chr2:47994600-47995600	Enhancers	Primary B cells from peripheral blood	blood
7	chr2:47994600-47995600	Enhancers	Liver	Liver
8	chr2:47994800-47995600	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr2:47994800-47995600	Enhancers	GM12878-XiMat	blood
10	chr2:47994800-47995800	Enhancers	K562	blood
11	chr2:47995000-47995400	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr2:47995000-47995400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr2:47995000-47995400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:47995000-47995400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:47995000-47995400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr2:47995000-47995400	Enhancers	Fetal Intestine Small	intestine
17	chr2:47995000-47995400	Enhancers	Fetal Thymus	thymus
18	chr2:47995000-47995400	Enhancers	Gastric	stomach
19	chr2:47995000-47995400	Active TSS	Rectal Smooth Muscle	rectum
20	chr2:47995000-47995400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr2:47995000-47995400	Flanking Bivalent TSS/Enh	Dnd41	blood
22	chr2:47995000-47995600	Enhancers	H1 Cell Line	embryonic stem cell
23	chr2:47995000-47995600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr2:47995000-47995600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr2:47995000-47995600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr2:47995000-47995600	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr2:47995000-47995600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:47995000-47995600	Enhancers	Brain Anterior Caudate	brain
29	chr2:47995000-47995600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
30	chr2:47995000-47995600	Enhancers	Fetal Muscle Leg	muscle
31	chr2:47995000-47995600	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr2:47995000-47995800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
33	chr2:47995000-47995800	Enhancers	Ovary	ovary
34	chr2:47995200-47995400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:47995200-47995400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:47995200-47995400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr2:47995200-47995400	Enhancers	Brain Angular Gyrus	brain
38	chr2:47995200-47995400	Enhancers	Brain Hippocampus Middle	brain
39	chr2:47995200-47995400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
40	chr2:47995200-47995400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
41	chr2:47995200-47995400	Enhancers	Hela-S3	cervix
42	chr2:47995200-47995400	Bivalent/Poised TSS	HepG2	liver
43	chr2:47995200-47995600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr2:47995200-47998400	Weak transcription	A549	lung
45	chr2:47995200-47998600	Weak transcription	Muscle Satellite Cultured Cells	--

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