Variant report

Variant	rs11139992
Chromosome Location	chr9:72337691-72337692
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs10511968	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10735563	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10780612	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10780613	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10867932	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10867996	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11139904	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11139928	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11139962	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11140074	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12685725	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1330241	0.89[EUR][1000 genomes]
rs1854684	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1854685	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2309518	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7862630	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72322200-72338000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr9:72323200-72338000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr9:72323600-72344400	Weak transcription	NHEK	skin
4	chr9:72323600-72360800	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr9:72323800-72357600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr9:72324200-72361000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr9:72324600-72359800	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr9:72324800-72345200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr9:72325000-72340400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr9:72325000-72358800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr9:72325400-72337800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr9:72325400-72346200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr9:72326000-72339800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr9:72326000-72345000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr9:72326600-72344600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr9:72326600-72346400	Weak transcription	Small Intestine	intestine
17	chr9:72327800-72366800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr9:72328000-72345000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr9:72328600-72341000	Strong transcription	Fetal Thymus	thymus
20	chr9:72329000-72344400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr9:72329400-72338800	Strong transcription	Skeletal Muscle Female	skeletal muscle
22	chr9:72329400-72339600	Strong transcription	Primary T cells from cord blood	blood
23	chr9:72329600-72345000	Weak transcription	Colon Smooth Muscle	Colon
24	chr9:72330000-72349600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr9:72330200-72339600	Strong transcription	Primary B cells from cord blood	blood
26	chr9:72330200-72339800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr9:72330600-72346200	Weak transcription	Colonic Mucosa	Colon
28	chr9:72330600-72357400	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr9:72330800-72341000	Strong transcription	Dnd41	blood
30	chr9:72331200-72346600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr9:72331600-72338000	Weak transcription	Gastric	stomach
32	chr9:72332000-72337800	Weak transcription	Brain Angular Gyrus	brain
33	chr9:72332200-72338600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr9:72332200-72344600	Weak transcription	Hela-S3	cervix
35	chr9:72332600-72339000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr9:72332600-72339800	Strong transcription	Fetal Muscle Leg	muscle
37	chr9:72332800-72339000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr9:72333400-72374000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr9:72333600-72338000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr9:72333600-72338000	Weak transcription	Thymus	Thymus
41	chr9:72333600-72342000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr9:72333600-72344600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr9:72333600-72344600	Weak transcription	Brain Substantia Nigra	brain
44	chr9:72333600-72345000	Weak transcription	Aorta	Aorta
45	chr9:72333600-72345000	Weak transcription	Esophagus	oesophagus
46	chr9:72333600-72345000	Weak transcription	Fetal Stomach	stomach
47	chr9:72333600-72345000	Weak transcription	Right Ventricle	heart
48	chr9:72333600-72345200	Weak transcription	Lung	lung
49	chr9:72333600-72345400	Weak transcription	NHLF	lung
50	chr9:72333800-72337800	Weak transcription	Primary T helper cells fromperipheralblood	blood

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