Variant report

Variant	rs66717971
Chromosome Location	chr16:69968622-69968623
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:69957939..69963004-chr16:69963560..69969238,6	K562	blood:

Variant related genes	Relation type
ENSG00000198373	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs3748386	0.84[EUR][1000 genomes]
rs3748387	0.84[EUR][1000 genomes]
rs3748389	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062171	chr16:69854267-70188585	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv542941	chr16:69854267-70188585	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1059249	chr16:69854467-70188446	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	nsv542942	chr16:69854467-70188446	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
5	esv2758428	chr16:69855122-70313222	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	esv2758652	chr16:69855122-70313222	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv1792580	chr16:69950347-70005207	Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
8	esv1801278	chr16:69951043-70050770	Enhancers Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
9	esv1829103	chr16:69951043-70050770	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
10	nsv1853	chr16:69962296-70268856	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69911400-69970200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr16:69939000-69974000	Weak transcription	Fetal Brain Male	brain
3	chr16:69945600-69969400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr16:69947600-69977200	Strong transcription	Primary neutrophils fromperipheralblood	blood
5	chr16:69948200-69977400	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr16:69948400-69977400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr16:69952600-69976000	Weak transcription	Hela-S3	cervix
8	chr16:69953600-69974800	Weak transcription	A549	lung
9	chr16:69954400-69976000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr16:69956400-69975600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr16:69957400-69977400	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr16:69957600-69975400	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr16:69957800-69977200	Strong transcription	Fetal Intestine Small	intestine
14	chr16:69958200-69972800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr16:69958400-69969800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr16:69959000-69976400	Strong transcription	Thymus	Thymus
17	chr16:69959000-69977200	Strong transcription	Fetal Intestine Large	intestine
18	chr16:69959000-69977600	Strong transcription	Primary T cells from cord blood	blood
19	chr16:69959200-69975400	Strong transcription	Duodenum Mucosa	Duodenum
20	chr16:69959400-69976200	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr16:69959600-69975200	Strong transcription	Fetal Thymus	thymus
22	chr16:69959600-69975600	Strong transcription	Fetal Stomach	stomach
23	chr16:69959800-69970400	Weak transcription	HUVEC	blood vessel
24	chr16:69960200-69969800	Weak transcription	GM12878-XiMat	blood
25	chr16:69960200-69971600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr16:69961400-69976600	Weak transcription	Right Atrium	heart
27	chr16:69961400-69977000	Weak transcription	HSMM	muscle
28	chr16:69961600-69974800	Weak transcription	Psoas Muscle	Psoas
29	chr16:69961600-69976800	Strong transcription	Spleen	Spleen
30	chr16:69962200-69975200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr16:69962400-69976800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr16:69962400-69976800	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr16:69962600-69976800	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr16:69962800-69973200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr16:69962800-69974600	Strong transcription	HepG2	liver
36	chr16:69962800-69975200	Strong transcription	Lung	lung
37	chr16:69962800-69975400	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr16:69962800-69975800	Strong transcription	Colonic Mucosa	Colon
39	chr16:69962800-69975800	Strong transcription	Pancreas	Pancrea
40	chr16:69962800-69976200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr16:69962800-69976200	Strong transcription	Gastric	stomach
42	chr16:69963200-69974600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr16:69963200-69975200	Strong transcription	NHLF	lung
44	chr16:69963200-69975400	Strong transcription	Stomach Smooth Muscle	stomach
45	chr16:69963200-69975800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr16:69963200-69976600	Strong transcription	Fetal Brain Female	brain
47	chr16:69963200-69977000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr16:69963400-69975000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr16:69963400-69975800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr16:69963400-69976000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--

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