Variant report

Variant	rs7488589
Chromosome Location	chr12:10734104-10734105
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10734838	0.81[ASN][1000 genomes]
rs10743910	0.81[ASN][1000 genomes]
rs10772319	0.81[ASN][1000 genomes]
rs10772321	0.81[ASN][1000 genomes]
rs10772323	0.81[ASN][1000 genomes]
rs10772326	0.81[ASN][1000 genomes]
rs10772327	0.81[ASN][1000 genomes]
rs10845171	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10845172	0.81[ASN][1000 genomes]
rs10845173	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11053860	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11053861	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11053868	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11053869	0.81[ASN][1000 genomes]
rs11053870	0.81[ASN][1000 genomes]
rs11053874	0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12312462	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1915323	0.81[ASN][1000 genomes]
rs2125093	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2125096	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2168750	0.81[ASN][1000 genomes]
rs2417745	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2607885	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2607886	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2607887	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2607889	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2607890	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2607891	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2607892	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2607893	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2607895	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2607896	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2607898	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2682474	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2682476	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3983544	0.81[ASN][1000 genomes]
rs3983545	0.81[ASN][1000 genomes]
rs3983546	0.81[ASN][1000 genomes]
rs4076336	0.83[ASN][1000 genomes]
rs4237929	0.83[ASN][1000 genomes]
rs4763552	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4763559	0.81[ASN][1000 genomes]
rs6488306	0.82[ASN][1000 genomes]
rs6488307	0.81[ASN][1000 genomes]
rs7134658	0.81[ASN][1000 genomes]
rs7134908	0.81[ASN][1000 genomes]
rs7306285	0.81[ASN][1000 genomes]
rs7358656	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7953221	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7971934	0.81[ASN][1000 genomes]
rs7980411	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv898775	chr12:10668694-10735786	Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1039120	chr12:10675930-10755446	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv832329	chr12:10677094-10845946	Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10725600-10743600	Weak transcription	Muscle Satellite Cultured Cells	--
2	chr12:10725600-10765000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:10725800-10743200	Weak transcription	NHDF-Ad	bronchial
4	chr12:10725800-10753400	Weak transcription	Osteobl	bone
5	chr12:10725800-10761400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:10726200-10734400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr12:10726400-10743200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr12:10726400-10759800	Weak transcription	NHLF	lung
9	chr12:10726800-10756600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr12:10730000-10762000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr12:10730600-10764800	Weak transcription	Lung	lung
12	chr12:10730800-10746200	Weak transcription	Fetal Thymus	thymus
13	chr12:10730800-10758400	Weak transcription	NHEK	skin
14	chr12:10731200-10744000	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr12:10731200-10756400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr12:10731400-10753200	Weak transcription	Primary B cells from cord blood	blood
17	chr12:10731600-10742400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:10731600-10760800	Weak transcription	Fetal Brain Female	brain
19	chr12:10732000-10759600	Weak transcription	Fetal Intestine Large	intestine
20	chr12:10732000-10759800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr12:10732200-10734200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:10732200-10735400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:10732200-10745800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr12:10732200-10759600	Weak transcription	Left Ventricle	heart
25	chr12:10732200-10761400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr12:10732200-10764800	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr12:10732400-10734200	Strong transcription	HSMM	muscle
28	chr12:10732400-10734400	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr12:10732400-10743600	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr12:10732400-10759600	Weak transcription	Colon Smooth Muscle	Colon
31	chr12:10732400-10764200	Weak transcription	Pancreas	Pancrea
32	chr12:10732600-10734400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr12:10732600-10759600	Weak transcription	HMEC	breast
34	chr12:10732800-10759600	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:10733000-10734200	Strong transcription	Fetal Stomach	stomach
36	chr12:10733000-10734200	ZNF genes & repeats	GM12878-XiMat	blood
37	chr12:10733000-10734400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr12:10733000-10734400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr12:10733000-10735400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
40	chr12:10733000-10735400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:10733200-10734200	Strong transcription	Primary T cells from cord blood	blood
42	chr12:10733200-10734200	Strong transcription	Fetal Muscle Leg	muscle
43	chr12:10733200-10734400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:10733200-10735200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr12:10733200-10735400	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
46	chr12:10733200-10740200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:10733400-10734400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
48	chr12:10733400-10735200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:10733400-10743800	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr12:10733400-10746000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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