Variant report

Variant	rs73062144
Chromosome Location	chr12:10732585-10732586
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11836564	0.92[ASN][1000 genomes]
rs4763200	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs55643441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55986836	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56369580	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56945826	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59007580	1.00[ASN][1000 genomes]
rs73056302	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73058205	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73058241	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73058246	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73058249	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73062131	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73062173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73062177	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73062464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73062469	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7963418	0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7972425	1.00[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:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:10714000-10733200	Weak transcription	Primary T cells from cord blood	blood
2	chr12:10724000-10733200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:10724000-10733400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr12:10725000-10733600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:10725600-10743600	Weak transcription	Muscle Satellite Cultured Cells	--
6	chr12:10725600-10765000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr12:10725800-10732600	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr12:10725800-10732600	Weak transcription	A549	lung
9	chr12:10725800-10733000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:10725800-10733200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:10725800-10733800	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:10725800-10743200	Weak transcription	NHDF-Ad	bronchial
13	chr12:10725800-10753400	Weak transcription	Osteobl	bone
14	chr12:10725800-10761400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr12:10726200-10734400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:10726400-10743200	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr12:10726400-10759800	Weak transcription	NHLF	lung
18	chr12:10726800-10733200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr12:10726800-10756600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:10729800-10733800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr12:10730000-10762000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr12:10730600-10733800	Weak transcription	Liver	Liver
23	chr12:10730600-10764800	Weak transcription	Lung	lung
24	chr12:10730800-10733800	Weak transcription	Thymus	Thymus
25	chr12:10730800-10746200	Weak transcription	Fetal Thymus	thymus
26	chr12:10730800-10758400	Weak transcription	NHEK	skin
27	chr12:10731000-10733000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr12:10731000-10733000	Weak transcription	GM12878-XiMat	blood
29	chr12:10731000-10733600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:10731200-10733000	Weak transcription	Fetal Stomach	stomach
31	chr12:10731200-10744000	Weak transcription	Primary T helper cells fromperipheralblood	blood
32	chr12:10731200-10756400	Weak transcription	Primary B cells from peripheral blood	blood
33	chr12:10731400-10733000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr12:10731400-10733400	Weak transcription	Adipose Nuclei	Adipose
35	chr12:10731400-10753200	Weak transcription	Primary B cells from cord blood	blood
36	chr12:10731600-10733200	Weak transcription	Fetal Lung	lung
37	chr12:10731600-10733200	Weak transcription	Fetal Muscle Leg	muscle
38	chr12:10731600-10733800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr12:10731600-10733800	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr12:10731600-10733800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr12:10731600-10742400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr12:10731600-10760800	Weak transcription	Fetal Brain Female	brain
43	chr12:10731800-10733600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
44	chr12:10731800-10733600	Weak transcription	Duodenum Mucosa	Duodenum
45	chr12:10731800-10733800	Weak transcription	Aorta	Aorta
46	chr12:10732000-10733400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr12:10732000-10759600	Weak transcription	Fetal Intestine Large	intestine
48	chr12:10732000-10759800	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr12:10732200-10733000	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr12:10732200-10734200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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