Variant report

Variant	rs12002016
Chromosome Location	chr9:26914918-26914919
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10967605	1.00[CEU][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12000190	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12000194	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12000403	0.97[EUR][1000 genomes]
rs12000745	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12000936	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12002242	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12002247	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12002844	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12002995	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12003566	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12004175	0.97[EUR][1000 genomes]
rs12004404	0.84[EUR][1000 genomes]
rs12004792	1.00[MEX][hapmap];1.00[TSI][hapmap]
rs12005788	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12005943	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12005959	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16910907	0.97[EUR][1000 genomes]
rs16910929	0.81[LWK][hapmap];1.00[MEX][hapmap];0.90[TSI][hapmap];0.90[YRI][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28581753	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs41271179	0.97[EUR][1000 genomes]
rs59452957	0.97[EUR][1000 genomes]
rs60097289	0.97[EUR][1000 genomes]
rs7043002	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73643108	0.85[EUR][1000 genomes]
rs73643115	0.90[EUR][1000 genomes]
rs73643116	0.94[EUR][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	nsv528614	chr9:26893662-27074233	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26892800-26916200	Weak transcription	Small Intestine	intestine
2	chr9:26893000-26916000	Weak transcription	Left Ventricle	heart
3	chr9:26893000-26916000	Weak transcription	Pancreas	Pancrea
4	chr9:26893000-26916200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:26893000-26922600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr9:26893000-26924200	Weak transcription	Esophagus	oesophagus
7	chr9:26893200-26923200	Weak transcription	Right Ventricle	heart
8	chr9:26893400-26916000	Weak transcription	Fetal Lung	lung
9	chr9:26893400-26916800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr9:26893400-26925000	Weak transcription	Stomach Mucosa	stomach
11	chr9:26893400-26936400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr9:26893400-26936400	Weak transcription	Psoas Muscle	Psoas
13	chr9:26893600-26915400	Weak transcription	Fetal Brain Female	brain
14	chr9:26893600-26915600	Weak transcription	Fetal Kidney	kidney
15	chr9:26893600-26915800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr9:26893600-26916000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr9:26893600-26916000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr9:26893600-26916000	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr9:26896600-26915400	Weak transcription	Brain Angular Gyrus	brain
20	chr9:26896800-26915800	Weak transcription	Colonic Mucosa	Colon
21	chr9:26896800-26915800	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr9:26898200-26924400	Weak transcription	Aorta	Aorta
23	chr9:26899200-26921200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr9:26899400-26916200	Weak transcription	NHEK	skin
25	chr9:26900600-26916200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr9:26900800-26930000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:26901200-26935800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr9:26901600-26916000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr9:26901600-26920800	Weak transcription	Gastric	stomach
30	chr9:26902800-26936600	Weak transcription	Spleen	Spleen
31	chr9:26903000-26927800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr9:26903000-26929800	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr9:26903000-26935200	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr9:26903200-26928400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr9:26903200-26930000	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr9:26903200-26932600	Strong transcription	Dnd41	blood
37	chr9:26903200-26935200	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr9:26903800-26915400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr9:26903800-26927800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr9:26903800-26931600	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr9:26904600-26935200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr9:26904800-26916200	Weak transcription	Fetal Heart	heart
43	chr9:26905400-26938200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr9:26905800-26937400	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr9:26906000-26915400	Weak transcription	Thymus	Thymus
46	chr9:26906000-26915600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr9:26906000-26915600	Weak transcription	Brain Anterior Caudate	brain
48	chr9:26906000-26916000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
49	chr9:26906000-26916000	Weak transcription	Fetal Muscle Trunk	muscle
50	chr9:26906000-26916000	Weak transcription	Rectal Smooth Muscle	rectum

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