Variant report

Variant	rs12037100
Chromosome Location	chr1:151478165-151478166
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151430186..151432717-chr1:151476537..151479729,3	K562	blood:
2	1:151411623-151426875..1:151476039-151478607	GM12878	blood:
3	chr1:151477348..151494376-chr1:151504804..151515249,50	MCF-7	breast:
4	chr1:151427202..151436068-chr1:151477865..151490153,60	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143375	Chromatin interaction
ENSG00000232536	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000143367	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1009289	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10127622	0.92[EUR][1000 genomes]
rs10788807	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10788808	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10888418	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10888419	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11204834	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11204835	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11204837	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs11583133	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12026585	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12032983	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12118440	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12128578	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12730114	0.82[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs1547832	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1573129	0.89[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1573130	0.85[AMR][1000 genomes]
rs2211435	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2298167	0.85[AMR][1000 genomes]
rs2337359	0.85[AMR][1000 genomes]
rs61261719	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6675984	0.82[AMR][1000 genomes]
rs7548090	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7552458	0.94[AMR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv831581	chr1:151289151-151478605	Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151468400-151482400	Weak transcription	Cortex derived primary cultured neurospheres	brain
2	chr1:151468600-151482400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:151470200-151482400	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr1:151475400-151481600	Weak transcription	Stomach Mucosa	stomach
5	chr1:151475400-151481800	Weak transcription	Duodenum Mucosa	Duodenum
6	chr1:151475400-151483400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:151475800-151482000	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr1:151475800-151482800	Weak transcription	Hela-S3	cervix
9	chr1:151475800-151483200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:151476000-151481800	Weak transcription	Colonic Mucosa	Colon
11	chr1:151476600-151481400	Weak transcription	Fetal Intestine Small	intestine
12	chr1:151477000-151481400	Weak transcription	Fetal Intestine Large	intestine
13	chr1:151477200-151482600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:151477200-151483200	Weak transcription	HMEC	breast
15	chr1:151477400-151481400	Weak transcription	A549	lung
16	chr1:151477400-151482800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:151477400-151482800	Weak transcription	NHEK	skin
18	chr1:151477400-151483200	Weak transcription	Small Intestine	intestine
19	chr1:151477600-151482800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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