Variant report

Variant	rs60124900
Chromosome Location	chr12:10733632-10733633
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11834918	0.89[AFR][1000 genomes]
rs11836109	0.83[AMR][1000 genomes]
rs11836264	0.83[AMR][1000 genomes]
rs16921859	0.83[AMR][1000 genomes]
rs55785135	0.83[AMR][1000 genomes]
rs56801111	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs57025730	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs57035205	0.83[AMR][1000 genomes]
rs57430351	0.89[AFR][1000 genomes]
rs58067632	0.91[AFR][1000 genomes]
rs58677311	0.83[AMR][1000 genomes]
rs59613394	0.83[AMR][1000 genomes]
rs60400937	0.94[AFR][1000 genomes]
rs60461379	0.83[AMR][1000 genomes]
rs61143136	0.83[AMR][1000 genomes]
rs61345517	0.89[AFR][1000 genomes]
rs61473048	0.83[AMR][1000 genomes]
rs6488311	0.83[AMR][1000 genomes]
rs7303086	0.83[AMR][1000 genomes]
rs7303851	0.91[AFR][1000 genomes]
rs7308730	0.83[AMR][1000 genomes]
rs7316572	0.83[AMR][1000 genomes]
rs73252005	0.92[AFR][1000 genomes]
rs73254038	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs73264201	0.89[AFR][1000 genomes]
rs73266182	0.92[AFR][1000 genomes]
rs73266183	0.89[AFR][1000 genomes]
rs74060455	0.83[AMR][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:77 , 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	chr12:10725800-10733800	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr12:10725800-10743200	Weak transcription	NHDF-Ad	bronchial
5	chr12:10725800-10753400	Weak transcription	Osteobl	bone
6	chr12:10725800-10761400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:10726200-10734400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr12:10726400-10743200	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr12:10726400-10759800	Weak transcription	NHLF	lung
10	chr12:10726800-10756600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr12:10729800-10733800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr12:10730000-10762000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr12:10730600-10733800	Weak transcription	Liver	Liver
14	chr12:10730600-10764800	Weak transcription	Lung	lung
15	chr12:10730800-10733800	Weak transcription	Thymus	Thymus
16	chr12:10730800-10746200	Weak transcription	Fetal Thymus	thymus
17	chr12:10730800-10758400	Weak transcription	NHEK	skin
18	chr12:10731200-10744000	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr12:10731200-10756400	Weak transcription	Primary B cells from peripheral blood	blood
20	chr12:10731400-10753200	Weak transcription	Primary B cells from cord blood	blood
21	chr12:10731600-10733800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr12:10731600-10733800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr12:10731600-10733800	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr12:10731600-10742400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr12:10731600-10760800	Weak transcription	Fetal Brain Female	brain
26	chr12:10731800-10733800	Weak transcription	Aorta	Aorta
27	chr12:10732000-10759600	Weak transcription	Fetal Intestine Large	intestine
28	chr12:10732000-10759800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr12:10732200-10734200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:10732200-10735400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:10732200-10745800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr12:10732200-10759600	Weak transcription	Left Ventricle	heart
33	chr12:10732200-10761400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr12:10732200-10764800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr12:10732400-10733800	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr12:10732400-10734000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr12:10732400-10734200	Strong transcription	HSMM	muscle
38	chr12:10732400-10734400	Strong transcription	Skeletal Muscle Female	skeletal muscle
39	chr12:10732400-10743600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:10732400-10759600	Weak transcription	Colon Smooth Muscle	Colon
41	chr12:10732400-10764200	Weak transcription	Pancreas	Pancrea
42	chr12:10732600-10734400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr12:10732600-10759600	Weak transcription	HMEC	breast
44	chr12:10732800-10733800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr12:10732800-10759600	Weak transcription	Brain Hippocampus Middle	brain
46	chr12:10733000-10734200	Strong transcription	Fetal Stomach	stomach
47	chr12:10733000-10734200	ZNF genes & repeats	GM12878-XiMat	blood
48	chr12:10733000-10734400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:10733000-10734400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:10733000-10735400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell

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