Variant report

Variant	rs9973625
Chromosome Location	chr2:46547959-46547960
allele	C/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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:46544349..46547269-chr2:46547433..46550887,3	K562	blood:
2	chr2:46544945..46548342-chr2:46551030..46552649,4	K562	blood:
3	chr2:46538954..46542197-chr2:46546161..46549793,3	K562	blood:
4	chr2:46544956..46549180-chr2:46555262..46560311,5	K562	blood:
5	chr2:46523844..46526806-chr2:46546642..46549124,2	MCF-7	breast:
6	chr2:46547551..46550129-chr2:46559126..46561888,2	K562	blood:
7	chr2:46546477..46548954-chr2:46550131..46552610,2	MCF-7	breast:
8	chr2:46485218..46486784-chr2:46547408..46549874,2	K562	blood:
9	chr2:46464013..46465533-chr2:46546957..46548852,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000116016	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10189575	1.00[AMR][1000 genomes]
rs17035035	1.00[AMR][1000 genomes]
rs17035050	1.00[AMR][1000 genomes]
rs72887408	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012446	chr2:45921682-46737036	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv916169	chr2:46310963-46622603	Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	esv2757795	chr2:46532812-46874151	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	esv2759046	chr2:46532812-46874151	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46542800-46548200	Enhancers	Skeletal Muscle Male	skeletal muscle
2	chr2:46543000-46549400	Weak transcription	Spleen	Spleen
3	chr2:46543000-46554000	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:46543000-46555400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:46543600-46549200	Weak transcription	Right Ventricle	heart
6	chr2:46543600-46549400	Weak transcription	Lung	lung
7	chr2:46543600-46552600	Weak transcription	Esophagus	oesophagus
8	chr2:46543600-46557200	Weak transcription	Colonic Mucosa	Colon
9	chr2:46544000-46548000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:46544200-46553600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr2:46544400-46549800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr2:46544600-46548000	Enhancers	NHEK	skin
13	chr2:46544600-46556400	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr2:46544800-46548000	Enhancers	A549	lung
15	chr2:46545400-46548000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:46545800-46553200	Weak transcription	Fetal Intestine Large	intestine
17	chr2:46546000-46548600	Enhancers	Placenta Amnion	Placenta Amnion
18	chr2:46546000-46557400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr2:46546200-46548000	Enhancers	Placenta	Placenta
20	chr2:46546200-46556800	Weak transcription	Fetal Intestine Small	intestine
21	chr2:46546400-46548000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:46546400-46548200	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr2:46546400-46555000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:46546600-46548200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr2:46546600-46551000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr2:46546800-46548000	Flanking Active TSS	Liver	Liver
27	chr2:46546800-46548000	Enhancers	Fetal Stomach	stomach
28	chr2:46546800-46549400	Enhancers	iPS-20b Cell Line	embryonic stem cell
29	chr2:46547000-46548000	Flanking Active TSS	NHDF-Ad	bronchial
30	chr2:46547000-46548000	Flanking Active TSS	NHLF	lung
31	chr2:46547000-46548200	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr2:46547000-46550600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr2:46547000-46553200	Weak transcription	Stomach Mucosa	stomach
34	chr2:46547200-46548000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr2:46547200-46548000	Enhancers	Small Intestine	intestine
36	chr2:46547200-46548400	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr2:46547200-46549600	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr2:46547400-46548000	Enhancers	H9 Cell Line	embryonic stem cell
39	chr2:46547400-46548000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:46547400-46548000	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr2:46547400-46548000	Active TSS	Stomach Smooth Muscle	stomach
42	chr2:46547400-46549200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr2:46547400-46549400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr2:46547400-46549400	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr2:46547600-46548000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:46547600-46548400	Weak transcription	Hela-S3	cervix
47	chr2:46547600-46549200	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr2:46547600-46550600	Weak transcription	HMEC	breast
49	chr2:46547600-46555200	Weak transcription	Duodenum Mucosa	Duodenum
50	chr2:46547800-46548000	Enhancers	Adipose Nuclei	Adipose

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links