Variant report

Variant	rs7315385
Chromosome Location	chr12:116993957-116993958
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:116713864..116715417-chr12:116993914..116995823,2	K562	blood:

Variant related genes	Relation type
ENSG00000123066	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10774871	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10774872	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10850662	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10850663	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11068062	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11068070	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068072	0.84[AMR][1000 genomes]
rs11068075	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11609040	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11609872	0.82[ASN][1000 genomes]
rs11610226	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11615960	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1394801	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1394802	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2047952	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2089222	0.90[ASN][1000 genomes]
rs2102294	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2893685	0.90[ASN][1000 genomes]
rs60521218	0.95[ASN][1000 genomes]
rs6490075	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6490076	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7297552	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7300418	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7304300	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7954181	0.87[ASN][1000 genomes]
rs7961538	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7969190	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7969566	0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7972701	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7976256	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[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	nsv899540	chr12:116920503-116999861	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:116984200-116996800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr12:116984200-116997000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:116986600-116994800	Weak transcription	Thymus	Thymus
4	chr12:116987600-116994400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr12:116990200-116994800	Weak transcription	NH-A	brain
6	chr12:116990400-116994600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr12:116990400-116994800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:116990400-116995200	Weak transcription	NHEK	skin
9	chr12:116990600-116995200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr12:116990600-116995200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr12:116990800-116995200	Weak transcription	Spleen	Spleen
12	chr12:116990800-116996400	Weak transcription	Placenta	Placenta
13	chr12:116990800-116996800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr12:116991000-116994400	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr12:116991600-116994400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr12:116991600-116994400	Weak transcription	K562	blood
17	chr12:116991600-116994400	Weak transcription	Monocytes-CD14+_RO01746	blood
18	chr12:116992600-116994400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr12:116993000-116997200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr12:116993200-116995000	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr12:116993200-116995400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr12:116993400-116994400	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr12:116993400-116995600	Weak transcription	Primary T cells from cord blood	blood
24	chr12:116993400-116996200	Enhancers	Fetal Thymus	thymus
25	chr12:116993600-116994200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr12:116993600-116994400	Weak transcription	Primary B cells from cord blood	blood
27	chr12:116993600-116995200	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr12:116993800-116994800	Weak transcription	Fetal Brain Male	brain

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