Variant report

Variant	rs7193430
Chromosome Location	chr16:65154886-65154887
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs12051500	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12232421	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12443573	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16968496	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16968497	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16968508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7195772	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7200327	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][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	nsv833260	chr16:65050647-65218759	Enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv34131	chr16:65137094-65379496	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	esv3356783	chr16:65154876-65157424	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:65151800-65155000	Flanking Active TSS	HUVEC	blood vessel
2	chr16:65152000-65159400	Active TSS	Ovary	ovary
3	chr16:65152400-65155800	Active TSS	Fetal Brain Male	brain
4	chr16:65153000-65155600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr16:65153200-65156400	Active TSS	Stomach Smooth Muscle	stomach
6	chr16:65153200-65156600	Active TSS	NH-A	brain
7	chr16:65153200-65157800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr16:65153200-65158600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr16:65153200-65158600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr16:65153400-65156200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr16:65153400-65156400	Bivalent/Poised TSS	Fetal Lung	lung
12	chr16:65153400-65157600	Active TSS	NHLF	lung
13	chr16:65153400-65158600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
14	chr16:65153600-65156200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr16:65153600-65157800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr16:65153600-65158000	Active TSS	HSMM	muscle
17	chr16:65153600-65158000	Active TSS	HSMMtube	muscle
18	chr16:65153600-65158000	Active TSS	NHDF-Ad	bronchial
19	chr16:65153800-65156400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
20	chr16:65153800-65156400	Bivalent/Poised TSS	NHEK	skin
21	chr16:65153800-65157800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr16:65153800-65158000	Active TSS	Aorta	Aorta
23	chr16:65153800-65158200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr16:65153800-65158200	Active TSS	Brain Cingulate Gyrus	brain
25	chr16:65153800-65158400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr16:65154000-65155000	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr16:65154000-65155400	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr16:65154000-65155600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
29	chr16:65154000-65155600	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
30	chr16:65154000-65156600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr16:65154000-65157800	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr16:65154000-65158000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
33	chr16:65154000-65158400	Active TSS	Brain Anterior Caudate	brain
34	chr16:65154000-65158400	Active TSS	Brain Hippocampus Middle	brain
35	chr16:65154000-65158800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
36	chr16:65154200-65155200	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr16:65154200-65155600	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr16:65154200-65155600	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
39	chr16:65154200-65156000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr16:65154200-65156200	Active TSS	HMEC	breast
41	chr16:65154200-65158000	Active TSS	Brain Angular Gyrus	brain
42	chr16:65154200-65158000	Active TSS	Right Atrium	heart
43	chr16:65154200-65158000	Active TSS	Osteobl	bone
44	chr16:65154200-65158200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr16:65154200-65158200	Active TSS	Rectal Smooth Muscle	rectum
46	chr16:65154200-65158400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
47	chr16:65154200-65158400	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr16:65154200-65158800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
49	chr16:65154400-65155000	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr16:65154400-65155200	Bivalent/Poised TSS	Lung	lung

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