Variant report

Variant	rs12118440
Chromosome Location	chr1:151474353-151474354
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:151467596..151470891-chr1:151470893..151474724,4	MCF-7	breast:
2	chr1:151464854..151467789-chr1:151473265..151475428,2	K562	blood:
3	1:151411623-151426875..1:151473324-151476039	H1-hESC	embryonic stem cell:	embryo
4	chr1:151459917..151461603-chr1:151473316..151475793,2	K562	blood:
5	chr1:151474013..151475617-chr1:151966742..151969004,2	MCF-7	breast:
6	chr1:151430405..151433635-chr1:151472589..151475332,4	K562	blood:

Variant related genes	Relation type
ENSG00000197747	Chromatin interaction
ENSG00000229021	Chromatin interaction
ENSG00000143442	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1009289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10127622	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10788807	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10788808	0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10888418	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10888419	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11204834	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11204835	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11204837	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs11204838	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11204839	0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11583133	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12026585	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12032983	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12037100	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12128578	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12730114	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1547832	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1573129	0.80[ASN][1000 genomes]
rs1573130	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2211435	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2298167	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2298168	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2337359	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs61261719	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6675984	0.83[ASN][1000 genomes]
rs7548090	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7552458	0.84[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	chr1:151467400-151475200	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:151468000-151474400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:151468200-151474600	Weak transcription	Hela-S3	cervix
4	chr1:151468400-151476600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr1:151468400-151482400	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:151468600-151475000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr1:151468600-151482400	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:151470200-151482400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr1:151471000-151475400	Enhancers	Duodenum Mucosa	Duodenum
10	chr1:151471000-151476600	Enhancers	Fetal Intestine Small	intestine
11	chr1:151472400-151475200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr1:151473200-151474400	Weak transcription	Fetal Intestine Large	intestine
13	chr1:151473400-151474400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr1:151473400-151474400	Weak transcription	Small Intestine	intestine
15	chr1:151473800-151475400	Enhancers	Stomach Mucosa	stomach
16	chr1:151474000-151475200	Weak transcription	Colonic Mucosa	Colon
17	chr1:151474000-151475800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
18	chr1:151474000-151475800	Enhancers	K562	blood
19	chr1:151474200-151476200	Enhancers	HepG2	liver

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