Variant report

Variant	rs7206524
Chromosome Location	chr16:69975896-69975897
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:69969820..69971690-chr16:69974264..69975931,2	K562	blood:
2	chr16:69970218..69972832-chr16:69974384..69976612,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198373	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2133796	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3748386	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3748387	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3748389	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs57613728	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7190012	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 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
11	esv1824931	chr16:69968850-70230516	Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
12	esv1829372	chr16:69968850-70230516	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
13	esv1830874	chr16:69968850-70298988	Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' 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	45 gene(s)	inside rSNPs	diseases
14	esv15512	chr16:69970836-70032614	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
15	esv2754644	chr16:69971965-70191118	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
16	esv1823631	chr16:69975086-70103765	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
17	esv3415189	chr16:69975817-69976291	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7206524	LOC440348	Cis_chr	lymphoblastoid	RTeQTL
rs7206524	CLEC18C	cis	Whole Blood	GTEx

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:69947600-69977200	Strong transcription	Primary neutrophils fromperipheralblood	blood
2	chr16:69948200-69977400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr16:69948400-69977400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:69952600-69976000	Weak transcription	Hela-S3	cervix
5	chr16:69954400-69976000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr16:69957400-69977400	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr16:69957800-69977200	Strong transcription	Fetal Intestine Small	intestine
8	chr16:69959000-69976400	Strong transcription	Thymus	Thymus
9	chr16:69959000-69977200	Strong transcription	Fetal Intestine Large	intestine
10	chr16:69959000-69977600	Strong transcription	Primary T cells from cord blood	blood
11	chr16:69959400-69976200	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr16:69961400-69976600	Weak transcription	Right Atrium	heart
13	chr16:69961400-69977000	Weak transcription	HSMM	muscle
14	chr16:69961600-69976800	Strong transcription	Spleen	Spleen
15	chr16:69962400-69976800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr16:69962400-69976800	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr16:69962600-69976800	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr16:69962800-69976200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr16:69962800-69976200	Strong transcription	Gastric	stomach
20	chr16:69963200-69976600	Strong transcription	Fetal Brain Female	brain
21	chr16:69963200-69977000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr16:69963400-69976000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr16:69963400-69977200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr16:69963600-69976400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr16:69963800-69976200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr16:69964200-69976000	Strong transcription	Osteobl	bone
27	chr16:69964200-69976400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr16:69964200-69976800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr16:69964400-69977400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr16:69964600-69976400	Strong transcription	Esophagus	oesophagus
31	chr16:69965000-69976200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr16:69965000-69976400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr16:69965200-69976200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr16:69966600-69976000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr16:69967000-69976200	Strong transcription	Brain Anterior Caudate	brain
36	chr16:69967200-69977000	Strong transcription	Brain Substantia Nigra	brain
37	chr16:69968000-69976000	Weak transcription	Fetal Kidney	kidney
38	chr16:69970800-69977400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr16:69970800-69978800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr16:69971200-69976400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr16:69971200-69977000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr16:69971600-69976800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr16:69971800-69976000	Strong transcription	Brain Hippocampus Middle	brain
44	chr16:69971800-69977000	Weak transcription	HMEC	breast
45	chr16:69973200-69976200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr16:69973600-69977200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr16:69973600-69977200	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr16:69973800-69976600	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr16:69973800-69977000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr16:69973800-69977000	Weak transcription	Primary hematopoietic stem cells	blood

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