Variant report

Variant	rs11139928
Chromosome Location	chr9:72328979-72328980
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:72316586..72319182-chr9:72326502..72329352,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10511968	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10735563	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10780612	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10780613	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10867932	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10867996	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11139904	0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11139962	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11139992	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11140074	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12685725	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1330241	0.91[EUR][1000 genomes]
rs1854684	0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1854685	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2309518	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7862630	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[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	nsv471309	chr9:72273898-72410323	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1048622	chr9:72303617-72371795	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72313000-72333200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr9:72319400-72330400	Weak transcription	Left Ventricle	heart
3	chr9:72319400-72336600	Weak transcription	NHDF-Ad	bronchial
4	chr9:72320400-72332800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr9:72320600-72330200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr9:72320800-72330600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr9:72320800-72332600	Weak transcription	NH-A	brain
8	chr9:72321000-72331600	Weak transcription	Brain Hippocampus Middle	brain
9	chr9:72321400-72332400	Weak transcription	HMEC	breast
10	chr9:72321400-72332600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:72321400-72333200	Weak transcription	Brain Substantia Nigra	brain
12	chr9:72321600-72330600	Weak transcription	Hela-S3	cervix
13	chr9:72321600-72331400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr9:72321600-72332600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr9:72321600-72332600	Weak transcription	Placenta	Placenta
16	chr9:72321600-72334400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr9:72321600-72335400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr9:72321800-72333200	Weak transcription	NHLF	lung
19	chr9:72322000-72333000	Weak transcription	Thymus	Thymus
20	chr9:72322200-72329400	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr9:72322200-72332600	Weak transcription	Pancreas	Pancrea
22	chr9:72322200-72332600	Weak transcription	Spleen	Spleen
23	chr9:72322200-72338000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr9:72322400-72329400	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr9:72322600-72332600	Weak transcription	Fetal Stomach	stomach
26	chr9:72322600-72333200	Weak transcription	A549	lung
27	chr9:72322800-72329000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr9:72322800-72333200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr9:72323000-72332600	Weak transcription	Esophagus	oesophagus
30	chr9:72323000-72332600	Weak transcription	GM12878-XiMat	blood
31	chr9:72323200-72331000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr9:72323200-72332600	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr9:72323200-72338000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr9:72323400-72330800	Weak transcription	Fetal Intestine Small	intestine
35	chr9:72323600-72330800	Weak transcription	Fetal Kidney	kidney
36	chr9:72323600-72344400	Weak transcription	NHEK	skin
37	chr9:72323600-72360800	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr9:72323800-72357600	Strong transcription	Monocytes-CD14+_RO01746	blood
39	chr9:72324000-72332800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr9:72324000-72335000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr9:72324200-72330800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr9:72324200-72331400	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr9:72324200-72333200	Weak transcription	HSMM	muscle
44	chr9:72324200-72361000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
45	chr9:72324400-72331200	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr9:72324600-72335400	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr9:72324600-72359800	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr9:72324800-72330400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr9:72324800-72333200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr9:72324800-72345200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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