Variant report

Variant	rs13380604
Chromosome Location	chr16:12318825-12318826
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10163343	1.00[AMR][1000 genomes]
rs11075060	1.00[AMR][1000 genomes]
rs13380428	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16959113	1.00[AMR][1000 genomes]
rs28469348	1.00[AMR][1000 genomes]
rs41469846	1.00[AMR][1000 genomes]
rs7189571	1.00[AMR][1000 genomes]
rs7193256	1.00[AMR][1000 genomes]
rs7195084	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]
rs8056108	1.00[AMR][1000 genomes]
rs8058220	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8062306	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9630618	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:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12261800-12322000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr16:12282800-12322600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
3	chr16:12292200-12322200	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr16:12293600-12319800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr16:12294800-12322400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr16:12295600-12319800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr16:12295800-12320800	Weak transcription	HSMMtube	muscle
8	chr16:12296200-12319800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr16:12296600-12322600	Weak transcription	Right Ventricle	heart
10	chr16:12297000-12322400	Weak transcription	Ovary	ovary
11	chr16:12297400-12353800	Weak transcription	Gastric	stomach
12	chr16:12298400-12319400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr16:12298800-12322000	Weak transcription	Fetal Muscle Leg	muscle
14	chr16:12299600-12322200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr16:12299600-12322400	Weak transcription	Spleen	Spleen
16	chr16:12302600-12322000	Weak transcription	Esophagus	oesophagus
17	chr16:12302800-12322000	Weak transcription	NHDF-Ad	bronchial
18	chr16:12302800-12322600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr16:12303000-12322600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr16:12303200-12322800	Weak transcription	NHEK	skin
21	chr16:12303800-12321800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr16:12306200-12323600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr16:12306400-12330400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr16:12306600-12322200	Weak transcription	NHLF	lung
25	chr16:12308000-12371400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr16:12308200-12322200	Weak transcription	Adipose Nuclei	Adipose
27	chr16:12308400-12319400	Weak transcription	Brain Angular Gyrus	brain
28	chr16:12308600-12322000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr16:12309800-12321800	Weak transcription	Fetal Intestine Small	intestine
30	chr16:12309800-12322000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr16:12309800-12371200	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr16:12310000-12322800	Weak transcription	Fetal Thymus	thymus
33	chr16:12310600-12319600	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr16:12310600-12328600	Weak transcription	Aorta	Aorta
35	chr16:12311000-12319600	Weak transcription	Fetal Stomach	stomach
36	chr16:12311000-12322400	Weak transcription	Lung	lung
37	chr16:12311400-12319400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr16:12311800-12333400	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr16:12313800-12322000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr16:12313800-12329800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr16:12314000-12319400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr16:12314000-12329000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr16:12315200-12319400	Weak transcription	Fetal Brain Male	brain
44	chr16:12316000-12319400	Weak transcription	Fetal Brain Female	brain
45	chr16:12316200-12319200	Weak transcription	Brain Germinal Matrix	brain
46	chr16:12316200-12322800	Weak transcription	Primary T cells from cord blood	blood
47	chr16:12318000-12319600	Enhancers	GM12878-XiMat	blood
48	chr16:12318200-12319000	Enhancers	HepG2	liver
49	chr16:12318400-12319600	Strong transcription	Primary B cells from cord blood	blood
50	chr16:12318400-12320400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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