Variant report

Variant	rs72949187
Chromosome Location	chr2:110266571-110266572
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:110064468..110066338-chr2:110266545..110269505,2	MCF-7	breast:
2	chr2:110265348..110267914-chr2:110269855..110271793,2	MCF-7	breast:
3	chr2:110261068..110263464-chr2:110265348..110267401,2	MCF-7	breast:
4	chr2:110266262..110268417-chr2:110288079..110290936,2	K562	blood:
5	chr2:110265713..110268209-chr2:110270053..110271829,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs58299134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61633348	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72936493	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938245	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938300	1.00[AMR][1000 genomes]
rs72940253	1.00[AMR][1000 genomes]
rs72940264	1.00[AMR][1000 genomes]
rs72949182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72949185	1.00[AFR][1000 genomes];1.00[AMR][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:26 , 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	chr2:110259600-110267600	Weak transcription	NHLF	lung
7	chr2:110261600-110271200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:110262400-110267600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:110262800-110270400	Weak transcription	Right Ventricle	heart
10	chr2:110263800-110266600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr2:110263800-110267600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:110263800-110268200	Weak transcription	Brain Germinal Matrix	brain
13	chr2:110263800-110271000	Weak transcription	Colon Smooth Muscle	Colon
14	chr2:110264000-110267600	Weak transcription	Fetal Brain Male	brain
15	chr2:110264200-110266800	Enhancers	Primary hematopoietic stem cells	blood
16	chr2:110264200-110268400	Weak transcription	Fetal Brain Female	brain
17	chr2:110264400-110266600	Enhancers	Placenta	Placenta
18	chr2:110265600-110267600	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:110265600-110268000	Weak transcription	GM12878-XiMat	blood
20	chr2:110265600-110270800	Weak transcription	Fetal Kidney	kidney
21	chr2:110265800-110267600	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:110266000-110267400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr2:110266200-110267000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr2:110266400-110266600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:110266400-110266800	ZNF genes & repeats	Spleen	Spleen
26	chr2:110266400-110267400	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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