Variant report

Variant	rs168411
Chromosome Location	chr16:12123744-12123745
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1616017	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1616090	0.87[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1641835	0.91[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs168409	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs1703492	0.92[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1703493	0.91[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs1703494	0.82[AMR][1000 genomes]
rs171222	0.84[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2541583	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2662830	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs350214	0.81[AMR][1000 genomes]
rs350215	0.80[AMR][1000 genomes]
rs350216	0.82[AMR][1000 genomes]
rs350218	0.80[ASN][1000 genomes]
rs350220	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs350221	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs350222	0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7192491	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs8055073	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv905347	chr16:12010444-12243329	Genic enhancers Strong transcription Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	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
3	nsv482458	chr16:12014925-12145977	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1043959	chr16:12039346-12285269	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv977110	chr16:12123355-12146787	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12071400-12130800	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr16:12071800-12140200	Weak transcription	Fetal Intestine Small	intestine
3	chr16:12098400-12136000	Weak transcription	Fetal Stomach	stomach
4	chr16:12099600-12135200	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr16:12099600-12141200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr16:12101800-12129800	Weak transcription	Aorta	Aorta
7	chr16:12102000-12124200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr16:12105200-12142200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr16:12105800-12124200	Weak transcription	Primary T cells from cord blood	blood
10	chr16:12108600-12128400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr16:12109800-12124200	Weak transcription	Left Ventricle	heart
12	chr16:12109800-12142200	Weak transcription	Gastric	stomach
13	chr16:12112000-12124200	Weak transcription	HSMMtube	muscle
14	chr16:12112000-12129200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr16:12112000-12142200	Weak transcription	NHLF	lung
16	chr16:12112000-12144000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr16:12113200-12129200	Weak transcription	Ovary	ovary
18	chr16:12115200-12140600	Weak transcription	Thymus	Thymus
19	chr16:12116200-12141000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr16:12116800-12129600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr16:12116800-12130800	Weak transcription	Fetal Kidney	kidney
22	chr16:12117200-12140400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr16:12117400-12183400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr16:12118200-12140400	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr16:12118400-12130800	Weak transcription	Right Ventricle	heart
26	chr16:12118600-12129400	Weak transcription	NHDF-Ad	bronchial
27	chr16:12118600-12130800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr16:12118600-12130800	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr16:12118800-12128400	Weak transcription	Adipose Nuclei	Adipose
30	chr16:12118800-12129600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr16:12119200-12146400	Weak transcription	Fetal Lung	lung
32	chr16:12119400-12129600	Weak transcription	Stomach Mucosa	stomach
33	chr16:12119400-12142000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr16:12119600-12130800	Weak transcription	Pancreas	Pancrea
35	chr16:12119600-12148400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr16:12119800-12130800	Weak transcription	HepG2	liver
37	chr16:12120200-12132600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr16:12120400-12123800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr16:12120400-12128200	Weak transcription	Placenta	Placenta
40	chr16:12120600-12124200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr16:12121000-12142200	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr16:12121200-12124200	Weak transcription	Brain Anterior Caudate	brain
43	chr16:12121200-12124400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr16:12121200-12125200	Weak transcription	Brain Germinal Matrix	brain
45	chr16:12121200-12130800	Weak transcription	Fetal Muscle Leg	muscle
46	chr16:12121200-12130800	Weak transcription	Spleen	Spleen
47	chr16:12121200-12132600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr16:12121400-12123800	Weak transcription	Brain Substantia Nigra	brain
49	chr16:12121400-12124200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr16:12121400-12124200	Weak transcription	Esophagus	oesophagus

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