Variant report

Variant	rs12342315
Chromosome Location	chr9:96590084-96590085
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:96578082..96580794-chr9:96589980..96592081,2	K562	blood:
2	chr9:96589596..96590325-chr9:96671569..96672287,2	MCF-7	breast:
3	chr9:96573213..96577608-chr9:96586073..96591162,5	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10739959	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10761283	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10761284	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10761289	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10761290	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10821237	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10992931	0.82[ASN][1000 genomes]
rs12337678	0.81[AMR][1000 genomes]
rs4744286	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs72751421	0.87[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	esv1824724	chr9:96582360-96598551	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:96588400-96590200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
2	chr9:96588400-96590200	Bivalent Enhancer	Placenta	Placenta
3	chr9:96588600-96590200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
4	chr9:96588600-96590600	Bivalent Enhancer	Spleen	Spleen
5	chr9:96588800-96590200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr9:96588800-96590200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr9:96588800-96590200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
8	chr9:96589000-96590200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr9:96589000-96590200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
10	chr9:96589000-96590200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
11	chr9:96589000-96590200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr9:96589000-96590200	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
13	chr9:96589000-96590200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
14	chr9:96589200-96591000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
15	chr9:96589400-96590200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr9:96589400-96590200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
17	chr9:96589600-96590200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
18	chr9:96589600-96590200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr9:96589600-96590200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
20	chr9:96589600-96590200	Bivalent Enhancer	Colonic Mucosa	Colon
21	chr9:96589600-96590200	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
22	chr9:96589600-96590200	Bivalent Enhancer	Stomach Mucosa	stomach
23	chr9:96589600-96590200	Active TSS	NH-A	brain
24	chr9:96589600-96590600	Enhancers	Brain Substantia Nigra	brain
25	chr9:96589600-96590600	Bivalent/Poised TSS	HepG2	liver
26	chr9:96589600-96590800	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr9:96589800-96590200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr9:96589800-96590200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr9:96589800-96590200	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr9:96589800-96590200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr9:96589800-96590200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr9:96589800-96590200	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr9:96589800-96590200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr9:96589800-96590200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:96589800-96590200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr9:96589800-96590200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr9:96589800-96590200	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr9:96589800-96590200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr9:96589800-96590200	Active TSS	Brain Anterior Caudate	brain
40	chr9:96589800-96590200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
41	chr9:96589800-96590200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
42	chr9:96589800-96590200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
43	chr9:96589800-96590200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
44	chr9:96589800-96590200	Active TSS	Esophagus	oesophagus
45	chr9:96589800-96590200	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
46	chr9:96589800-96590200	Flanking Bivalent TSS/Enh	Fetal Brain Female	brain
47	chr9:96589800-96590200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
48	chr9:96589800-96590200	Active TSS	Pancreas	Pancrea
49	chr9:96589800-96590200	Active TSS	Osteobl	bone
50	chr9:96589800-96590400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin

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