Variant report

Variant	rs57613728
Chromosome Location	chr16:69961296-69961297
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:69961246-69961313	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:69957939..69963004-chr16:69963560..69969238,6	K562	blood:
2	chr16:69956564..69958821-chr16:69961060..69963505,2	K562	blood:

Variant related genes	Relation type
WWP2	TF binding region
ENSG00000208017	Chromatin interaction
ENSG00000198373	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12149320	0.85[ASN][1000 genomes]
rs2133796	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2270838	0.83[EUR][1000 genomes]
rs7190012	0.84[EUR][1000 genomes]
rs7206524	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs57613728	LOC440348	Cis_chr	lymphoblastoid	RTeQTL

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	chr16:69924400-69965000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr16:69939000-69974000	Weak transcription	Fetal Brain Male	brain
4	chr16:69939600-69967600	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr16:69943200-69965600	Weak transcription	Brain Germinal Matrix	brain
6	chr16:69943600-69965000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr16:69943600-69967000	Weak transcription	Small Intestine	intestine
8	chr16:69945200-69964600	Weak transcription	Primary hematopoietic stem cells	blood
9	chr16:69945400-69964000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr16:69945600-69969400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr16:69947600-69977200	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr16:69948200-69977400	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr16:69948400-69977400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr16:69952200-69965000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr16:69952400-69963800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr16:69952600-69963600	Weak transcription	NHEK	skin
17	chr16:69952600-69976000	Weak transcription	Hela-S3	cervix
18	chr16:69952800-69963200	Weak transcription	Fetal Brain Female	brain
19	chr16:69952800-69965000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr16:69952800-69966800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr16:69953600-69974800	Weak transcription	A549	lung
22	chr16:69954400-69976000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
23	chr16:69956400-69975600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr16:69957400-69964400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
25	chr16:69957400-69977400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr16:69957600-69975400	Strong transcription	Primary T helper cells fromperipheralblood	blood
27	chr16:69957800-69962200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr16:69957800-69977200	Strong transcription	Fetal Intestine Small	intestine
29	chr16:69958000-69965000	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr16:69958000-69965000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr16:69958200-69965000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr16:69958200-69965000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr16:69958200-69965200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr16:69958200-69965600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr16:69958200-69972800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
36	chr16:69958400-69963000	Weak transcription	Fetal Heart	heart
37	chr16:69958400-69963800	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr16:69958400-69969800	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr16:69958800-69961600	Strong transcription	Colonic Mucosa	Colon
40	chr16:69958800-69967200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr16:69959000-69961400	Strong transcription	Primary B cells from peripheral blood	blood
42	chr16:69959000-69961600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr16:69959000-69961600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr16:69959000-69962200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr16:69959000-69962800	Active TSS	Aorta	Aorta
46	chr16:69959000-69965000	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr16:69959000-69976400	Strong transcription	Thymus	Thymus
48	chr16:69959000-69977200	Strong transcription	Fetal Intestine Large	intestine
49	chr16:69959000-69977600	Strong transcription	Primary T cells from cord blood	blood
50	chr16:69959200-69962000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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