Variant report

Variant	rs9751647
Chromosome Location	chr2:110269230-110269231
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	chr2:110267783..110269712-chr2:110370838..110373129,2	MCF-7	breast:
3	chr2:109898486..109901006-chr2:110267538..110269530,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186522	Chromatin interaction
ENSG00000198142	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12719999	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28520382	0.81[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs28634501	0.86[ASN][1000 genomes]
rs28812293	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4953844	0.87[ASN][1000 genomes]
rs6732116	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9330313	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9330315	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9330326	1.00[CEU][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9330327	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9678113	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9751995	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9752241	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs990967	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][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	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
4	esv3332462	chr2:110268770-110273157	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 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	chr2:110263800-110271000	Weak transcription	Colon Smooth Muscle	Colon
9	chr2:110265600-110270800	Weak transcription	Fetal Kidney	kidney
10	chr2:110267600-110269400	Enhancers	Fetal Muscle Leg	muscle
11	chr2:110267800-110287600	Weak transcription	Right Atrium	heart
12	chr2:110268000-110270800	Enhancers	GM12878-XiMat	blood
13	chr2:110268200-110269400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:110268200-110271000	Weak transcription	Lung	lung
15	chr2:110268200-110271000	Weak transcription	NHLF	lung
16	chr2:110268400-110270800	Weak transcription	Spleen	Spleen
17	chr2:110268400-110271200	Weak transcription	Adipose Nuclei	Adipose
18	chr2:110269000-110269800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr2:110269000-110270800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr2:110269000-110271000	Enhancers	Stomach Smooth Muscle	stomach
21	chr2:110269200-110270800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr2:110269200-110270800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:110269200-110271000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:110269200-110271000	Weak transcription	HSMM	muscle
25	chr2:110269200-110271200	Weak transcription	HSMMtube	muscle

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