Variant report

Variant	rs13383815
Chromosome Location	chr2:47491759-47491760
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:47441816..47444642-chr2:47491530..47494006,2	MCF-7	breast:
2	chr2:47482267..47483917-chr2:47489154..47492083,2	MCF-7	breast:
3	chr2:47426556..47429113-chr2:47489647..47493366,3	MCF-7	breast:
4	chr2:47416956..47422470-chr2:47490735..47503252,22	MCF-7	breast:
5	chr2:47399035..47407354-chr2:47479551..47494841,29	MCF-7	breast:
6	chr2:47397474..47405591-chr2:47490090..47505751,58	MCF-7	breast:
7	chr2:47412361..47428396-chr2:47486545..47501626,43	MCF-7	breast:
8	chr2:47478076..47480290-chr2:47491113..47492985,2	K562	blood:
9	chr2:47467180..47468819-chr2:47490590..47493226,2	MCF-7	breast:
10	chr2:47396241..47406824-chr2:47488149..47503058,74	K562	blood:
11	chr2:47442306..47443952-chr2:47489350..47492039,2	MCF-7	breast:
12	chr2:47397241..47405105-chr2:47487950..47492011,10	K562	blood:
13	chr2:47490578..47492989-chr2:47496160..47499559,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10169583	0.80[ASN][1000 genomes]
rs10175425	0.80[ASN][1000 genomes]
rs10210030	0.80[ASN][1000 genomes]
rs17558224	0.93[ASN][1000 genomes]
rs55741238	0.93[ASN][1000 genomes]
rs56218686	0.80[ASN][1000 genomes]
rs56239993	0.80[ASN][1000 genomes]
rs56406340	0.80[ASN][1000 genomes]
rs6749044	0.80[ASN][1000 genomes]
rs6751819	0.80[ASN][1000 genomes]
rs931640	0.93[ASN][1000 genomes]

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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv457385	chr2:47468331-47552277	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv581755	chr2:47468331-47552277	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47478800-47496400	Weak transcription	Hela-S3	cervix
2	chr2:47483800-47492000	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr2:47490400-47499200	Enhancers	Fetal Intestine Small	intestine
4	chr2:47491000-47491800	Enhancers	Brain Hippocampus Middle	brain
5	chr2:47491200-47491800	Enhancers	Brain Angular Gyrus	brain
6	chr2:47491200-47491800	Enhancers	Brain Anterior Caudate	brain
7	chr2:47491200-47492000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr2:47491200-47492000	Enhancers	Brain Cingulate Gyrus	brain
9	chr2:47491200-47492000	Enhancers	Brain Inferior Temporal Lobe	brain
10	chr2:47491200-47492600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:47491200-47493200	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:47491200-47493400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:47491200-47493400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:47491200-47493400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr2:47491200-47493600	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:47491200-47493800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:47491200-47494400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr2:47491200-47494400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr2:47491200-47495000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:47491200-47499400	Enhancers	Fetal Intestine Large	intestine
21	chr2:47491400-47491800	Enhancers	Brain Substantia Nigra	brain
22	chr2:47491400-47492800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:47491400-47493000	Enhancers	Stomach Smooth Muscle	stomach
24	chr2:47491400-47493200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr2:47491400-47493400	Enhancers	Liver	Liver
26	chr2:47491400-47494200	Enhancers	A549	lung
27	chr2:47491400-47494800	Enhancers	H1 Cell Line	embryonic stem cell
28	chr2:47491600-47491800	Enhancers	Colonic Mucosa	Colon
29	chr2:47491600-47492200	Flanking Bivalent TSS/Enh	HepG2	liver
30	chr2:47491600-47492800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr2:47491600-47493200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:47491600-47493400	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr2:47491600-47493400	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr2:47491600-47494000	Enhancers	H9 Cell Line	embryonic stem cell
35	chr2:47491600-47494000	Enhancers	Stomach Mucosa	stomach
36	chr2:47491600-47494800	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr2:47491600-47496400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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