Variant report

Variant	rs28469348
Chromosome Location	chr16:12349091-12349092
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10163343	1.00[AMR][1000 genomes]
rs11075060	1.00[AMR][1000 genomes]
rs13380428	1.00[AMR][1000 genomes]
rs13380604	1.00[AMR][1000 genomes]
rs16959113	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41469846	1.00[AMR][1000 genomes]
rs7189571	1.00[AMR][1000 genomes]
rs7190011	1.00[AMR][1000 genomes]
rs7195084	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7196613	1.00[AMR][1000 genomes]
rs7197752	1.00[AMR][1000 genomes]
rs7198130	1.00[AMR][1000 genomes]
rs7199914	1.00[AMR][1000 genomes]
rs7204451	1.00[AMR][1000 genomes]
rs7205734	1.00[AMR][1000 genomes]
rs7206812	1.00[AMR][1000 genomes]
rs8048731	1.00[AMR][1000 genomes]
rs8054828	1.00[AMR][1000 genomes]
rs8055058	1.00[AMR][1000 genomes]
rs8056108	1.00[AMR][1000 genomes]
rs8058220	1.00[AMR][1000 genomes]
rs8062306	1.00[AMR][1000 genomes]
rs9630618	0.87[AFR][1000 genomes];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	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv905348	chr16:12299936-12358206	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv833141	chr16:12314613-12487992	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12297400-12353800	Weak transcription	Gastric	stomach
2	chr16:12308000-12371400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr16:12309800-12371200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr16:12322600-12353600	Weak transcription	Lung	lung
5	chr16:12323400-12394200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr16:12323800-12373000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr16:12330800-12349800	Weak transcription	Primary T cells from cord blood	blood
8	chr16:12330800-12373000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr16:12333200-12350600	Weak transcription	Esophagus	oesophagus
10	chr16:12333200-12353200	Weak transcription	Spleen	Spleen
11	chr16:12334000-12356600	Weak transcription	Right Atrium	heart
12	chr16:12334400-12356200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr16:12334600-12371800	Weak transcription	Adipose Nuclei	Adipose
14	chr16:12338200-12356400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr16:12338200-12396200	Weak transcription	Thymus	Thymus
16	chr16:12339200-12350600	Weak transcription	Primary B cells from peripheral blood	blood
17	chr16:12340000-12351200	Weak transcription	Fetal Intestine Small	intestine
18	chr16:12340200-12349400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr16:12340400-12353800	Weak transcription	Pancreas	Pancrea
20	chr16:12340800-12353200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:12342400-12352400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr16:12344400-12349600	Enhancers	Fetal Muscle Leg	muscle
23	chr16:12344800-12350600	Weak transcription	Primary B cells from cord blood	blood
24	chr16:12346000-12349200	Enhancers	Fetal Muscle Trunk	muscle
25	chr16:12346800-12352000	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr16:12346800-12356200	Weak transcription	Fetal Brain Male	brain
27	chr16:12347000-12351000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr16:12347000-12351600	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr16:12347000-12351600	Weak transcription	Brain Substantia Nigra	brain
30	chr16:12347200-12351800	Weak transcription	Brain Anterior Caudate	brain
31	chr16:12347200-12356200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr16:12347400-12349600	Weak transcription	Fetal Brain Female	brain
33	chr16:12347600-12351800	Weak transcription	Brain Hippocampus Middle	brain
34	chr16:12347800-12349600	Weak transcription	HSMMtube	muscle
35	chr16:12347800-12352600	Weak transcription	Brain Germinal Matrix	brain
36	chr16:12347800-12356400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr16:12347800-12395200	Weak transcription	Right Ventricle	heart
38	chr16:12348200-12371400	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr16:12348600-12349400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr16:12348600-12350000	Enhancers	Fetal Heart	heart
41	chr16:12348600-12351200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr16:12348800-12354200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr16:12349000-12349800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr16:12349000-12350000	Enhancers	GM12878-XiMat	blood

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