Variant report

Variant	rs17126063
Chromosome Location	chr12:62673603-62673604
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFE2	chr12:62673563-62673663	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
FAM19A2	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17126100	1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17126124	0.82[YRI][hapmap];1.00[AMR][1000 genomes]
rs56079604	1.00[AMR][1000 genomes]
rs58529824	1.00[AMR][1000 genomes]
rs59103242	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60606440	1.00[AMR][1000 genomes]
rs61541331	1.00[AMR][1000 genomes]
rs7131719	1.00[AMR][1000 genomes]
rs7295871	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74095707	1.00[AMR][1000 genomes]
rs74095709	1.00[AMR][1000 genomes]
rs74095716	1.00[AMR][1000 genomes]
rs74095721	1.00[AMR][1000 genomes]
rs74095730	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74095743	1.00[AMR][1000 genomes]
rs74098033	1.00[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	nsv1035150	chr12:62615347-62785005	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv1049465	chr12:62657011-62785005	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv1053403	chr12:62657011-62809413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62655400-62685600	Weak transcription	HSMM	muscle
2	chr12:62656400-62679400	Weak transcription	Brain Anterior Caudate	brain
3	chr12:62656600-62685600	Weak transcription	Aorta	Aorta
4	chr12:62656600-62685600	Weak transcription	Pancreas	Pancrea
5	chr12:62656800-62675400	Weak transcription	Brain Hippocampus Middle	brain
6	chr12:62661600-62676000	Weak transcription	Fetal Thymus	thymus
7	chr12:62661600-62682800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr12:62662200-62676000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
9	chr12:62663000-62685600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:62663200-62684800	Weak transcription	NHEK	skin
11	chr12:62663400-62685600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr12:62664400-62685400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:62664800-62676200	Weak transcription	Hela-S3	cervix
14	chr12:62665000-62688000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr12:62665600-62674400	Weak transcription	Brain Substantia Nigra	brain
16	chr12:62665600-62674400	Weak transcription	Dnd41	blood
17	chr12:62665600-62675600	Weak transcription	Primary B cells from cord blood	blood
18	chr12:62665800-62679000	Weak transcription	Fetal Lung	lung
19	chr12:62666800-62678200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr12:62666800-62681600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr12:62667200-62677000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr12:62667200-62682200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr12:62667800-62676400	Weak transcription	A549	lung
24	chr12:62667800-62689000	Weak transcription	HSMMtube	muscle
25	chr12:62668400-62674200	Weak transcription	Psoas Muscle	Psoas
26	chr12:62668400-62675200	Weak transcription	Primary T cells fromperipheralblood	blood
27	chr12:62668400-62675200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr12:62668400-62675200	Weak transcription	Left Ventricle	heart
29	chr12:62668400-62679200	Weak transcription	Fetal Brain Male	brain
30	chr12:62668400-62682000	Weak transcription	NHLF	lung
31	chr12:62668800-62674400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:62668800-62678000	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr12:62669200-62677200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr12:62669600-62674200	Weak transcription	Primary B cells from peripheral blood	blood
35	chr12:62669600-62674200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:62669600-62675600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr12:62669600-62680400	Weak transcription	Right Ventricle	heart
38	chr12:62669800-62675800	Weak transcription	Ovary	ovary
39	chr12:62669800-62675800	Weak transcription	Right Atrium	heart
40	chr12:62669800-62676200	Weak transcription	Adipose Nuclei	Adipose
41	chr12:62669800-62679200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:62669800-62688400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr12:62670000-62679200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr12:62670000-62688600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:62670800-62679200	Weak transcription	NHDF-Ad	bronchial
46	chr12:62671000-62675200	Genic enhancers	K562	blood
47	chr12:62671000-62675600	Weak transcription	Colon Smooth Muscle	Colon
48	chr12:62671200-62676200	Weak transcription	Fetal Heart	heart
49	chr12:62671400-62675000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr12:62671400-62675800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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