Variant report

Variant	rs9751748
Chromosome Location	chr2:110267837-110267838
allele	A/T
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:110040320..110040979-chr2:110267545..110268323,2	MCF-7	breast:
2	chr2:110064468..110066338-chr2:110266545..110269505,2	MCF-7	breast:
3	chr2:110018797..110019414-chr2:110267594..110268145,2	MCF-7	breast:
4	chr2:110267783..110269712-chr2:110370838..110373129,2	MCF-7	breast:
5	chr2:110265348..110267914-chr2:110269855..110271793,2	MCF-7	breast:
6	chr2:110065536..110066414-chr2:110267473..110268313,6	MCF-7	breast:
7	chr2:110267485..110268272-chr3:70765790..70766707,2	MCF-7	breast:
8	chr2:110266262..110268417-chr2:110288079..110290936,2	K562	blood:
9	chr2:110265713..110268209-chr2:110270053..110271829,2	K562	blood:
10	chr2:109898486..109901006-chr2:110267538..110269530,2	MCF-7	breast:
11	chr2:109744231..109745133-chr2:110267387..110267933,2	K562	blood:
12	chr2:109744431..109745034-chr2:110267457..110268356,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000198142	Chromatin interaction
ENSG00000186522	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11265638	0.85[AFR][1000 genomes]
rs13399880	0.85[AFR][1000 genomes]
rs28374561	0.82[ASW][hapmap]
rs28639612	0.82[ASW][hapmap]
rs72949177	0.88[AFR][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	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874779	chr2:110030964-110270250	Enhancers Strong transcription ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv874780	chr2:110078080-110432886	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110256200-110270800	Weak transcription	Esophagus	oesophagus
2	chr2:110256200-110270800	Weak transcription	Rectal Smooth Muscle	rectum
3	chr2:110256200-110271400	Weak transcription	Ovary	ovary
4	chr2:110257800-110287800	Weak transcription	Gastric	stomach
5	chr2:110258200-110271200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr2:110261600-110271200	Weak transcription	Muscle Satellite Cultured Cells	--
7	chr2:110262800-110270400	Weak transcription	Right Ventricle	heart
8	chr2:110263800-110268200	Weak transcription	Brain Germinal Matrix	brain
9	chr2:110263800-110271000	Weak transcription	Colon Smooth Muscle	Colon
10	chr2:110264200-110268400	Weak transcription	Fetal Brain Female	brain
11	chr2:110265600-110268000	Weak transcription	GM12878-XiMat	blood
12	chr2:110265600-110270800	Weak transcription	Fetal Kidney	kidney
13	chr2:110267200-110268200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:110267400-110268000	Enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr2:110267600-110268200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:110267600-110268200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
17	chr2:110267600-110268200	Enhancers	Lung	lung
18	chr2:110267600-110268200	Enhancers	NHLF	lung
19	chr2:110267600-110268400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:110267600-110268400	Enhancers	Stomach Smooth Muscle	stomach
21	chr2:110267600-110268400	Enhancers	Spleen	Spleen
22	chr2:110267600-110269000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr2:110267600-110269200	Enhancers	Liver	Liver
24	chr2:110267600-110269200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr2:110267600-110269200	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr2:110267600-110269400	Enhancers	Fetal Muscle Leg	muscle
27	chr2:110267800-110268000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr2:110267800-110268400	Enhancers	Adipose Nuclei	Adipose
29	chr2:110267800-110287600	Weak transcription	Right Atrium	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links