Variant report

Variant	rs16967220
Chromosome Location	chr17:66789209-66789210
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1107769	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11653085	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12451027	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12453422	0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12453866	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28690290	0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55734961	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57913837	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59686015	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60787647	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62085642	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62085659	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6501738	0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7213475	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1067334	chr17:66695039-67221585	Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
2	nsv543411	chr17:66695039-67221585	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
3	nsv526857	chr17:66787428-66789959	Flanking Active TSS Enhancers Weak transcription	lncRNA	n/a	inside rSNPs	diseases
4	nsv575927	chr17:66787428-66817866	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:66784800-66789800	Enhancers	HepG2	liver
2	chr17:66785000-66790600	Enhancers	Liver	Liver
3	chr17:66786400-66791000	Enhancers	Adipose Nuclei	Adipose
4	chr17:66786400-66791000	Enhancers	NHDF-Ad	bronchial
5	chr17:66786400-66791200	Enhancers	Muscle Satellite Cultured Cells	--
6	chr17:66786400-66791800	Enhancers	Fetal Lung	lung
7	chr17:66786400-66791800	Enhancers	NHLF	lung
8	chr17:66786600-66791200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr17:66786800-66791000	Enhancers	Osteobl	bone
10	chr17:66787000-66791400	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr17:66787000-66791800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr17:66787200-66789800	Weak transcription	Stomach Mucosa	stomach
13	chr17:66787200-66791800	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr17:66787800-66789400	Enhancers	HSMMtube	muscle
15	chr17:66787800-66791600	Enhancers	Fetal Stomach	stomach
16	chr17:66788000-66790600	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr17:66788000-66790800	Enhancers	Brain Anterior Caudate	brain
18	chr17:66788000-66791000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr17:66788000-66791200	Enhancers	Brain Hippocampus Middle	brain
20	chr17:66788000-66791200	Enhancers	Brain Substantia Nigra	brain
21	chr17:66788000-66791200	Enhancers	Hela-S3	cervix
22	chr17:66788000-66791600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr17:66788000-66805800	Weak transcription	Right Atrium	heart
24	chr17:66788200-66790200	Weak transcription	Placenta	Placenta
25	chr17:66788200-66790600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr17:66788200-66790600	Weak transcription	Spleen	Spleen
27	chr17:66788200-66791000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr17:66788200-66791200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr17:66788400-66789800	Weak transcription	Primary B cells from cord blood	blood
30	chr17:66788400-66791000	Enhancers	Brain Cingulate Gyrus	brain
31	chr17:66788400-66791200	Enhancers	Brain Inferior Temporal Lobe	brain
32	chr17:66788400-66791600	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr17:66788400-66791600	Enhancers	A549	lung
34	chr17:66788600-66790200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr17:66788600-66791400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr17:66788600-66791800	Enhancers	HUVEC	blood vessel
37	chr17:66788800-66791400	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr17:66788800-66791400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr17:66788800-66791600	Enhancers	Ovary	ovary
40	chr17:66789000-66789400	Enhancers	H9 Cell Line	embryonic stem cell
41	chr17:66789000-66789400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr17:66789000-66790000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr17:66789000-66790000	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr17:66789000-66790200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr17:66789000-66790400	Enhancers	HUES64 Cell Line	embryonic stem cell
46	chr17:66789000-66790400	Enhancers	Colon Smooth Muscle	Colon
47	chr17:66789000-66791000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr17:66789000-66791200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr17:66789200-66789400	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr17:66789200-66789400	Enhancers	Fetal Muscle Trunk	muscle

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