Variant report

Variant	rs1106277
Chromosome Location	chr12:117524265-117524266
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117522745..117531514-chr12:117533680..117541602,11	K562	blood:
2	chr12:117522325..117524355-chr12:117524708..117526687,2	K562	blood:
3	chr12:117507312..117509184-chr12:117522050..117524792,2	K562	blood:

Variant related genes	Relation type
ENSG00000088992	Chromatin interaction
ENSG00000258285	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10744889	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10744890	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10774901	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10850754	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12423796	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1546246	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1546247	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1546248	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2173651	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4341616	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7304889	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7308236	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7959367	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7963451	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1804583	chr12:117472107-117525169	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117515000-117524800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr12:117515200-117535200	Weak transcription	Primary T cells from cord blood	blood
3	chr12:117515400-117526400	Weak transcription	Spleen	Spleen
4	chr12:117515400-117528600	Weak transcription	K562	blood
5	chr12:117520800-117526200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr12:117521000-117527000	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr12:117521600-117524800	Weak transcription	A549	lung
8	chr12:117521600-117530400	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr12:117522200-117525200	Enhancers	Left Ventricle	heart
10	chr12:117522200-117525200	Enhancers	Right Ventricle	heart
11	chr12:117522400-117525200	Enhancers	Brain Anterior Caudate	brain
12	chr12:117522400-117527000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr12:117522800-117525000	Genic enhancers	HepG2	liver
14	chr12:117523000-117524600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr12:117523000-117524800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr12:117523400-117524600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr12:117523400-117524800	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr12:117523600-117524600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:117523600-117524600	Weak transcription	Gastric	stomach
20	chr12:117523800-117527400	Weak transcription	Dnd41	blood
21	chr12:117524000-117524400	Weak transcription	Pancreas	Pancrea
22	chr12:117524000-117524800	Weak transcription	Fetal Heart	heart
23	chr12:117524000-117526600	Weak transcription	Stomach Mucosa	stomach
24	chr12:117524000-117528400	Weak transcription	Primary neutrophils fromperipheralblood	blood

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