Variant report

Variant	rs8046296
Chromosome Location	chr16:70428705-70428706
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:70427171-70429750	K562	blood:	n/a	n/a
2	POLR2A	chr16:70427140-70429833	K562	blood:	n/a	n/a
3	POLR2A	chr16:70428442-70428811	K562	blood:	n/a	n/a
4	CTCF	chr16:70428560-70428710	HCT-116	colon:	n/a	n/a
5	CTCF	chr16:70428680-70428830	HEK293	kidney:	n/a	n/a
6	PML	chr16:70428459-70428744	K562	blood:	n/a	n/a
7	CTCF	chr16:70428700-70428850	GM12874	blood:	n/a	n/a
8	POLR2A	chr16:70428561-70429692	K562	blood:	n/a	n/a
9	POLR2A	chr16:70428594-70430192	K562	blood:	n/a	n/a
10	POLR2A	chr16:70428392-70429725	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:70428201..70430288-chr16:70431851..70434209,2	MCF-7	breast:
2	chr16:70427347..70429652-chr16:70469861..70473258,4	K562	blood:
3	chr16:70425305..70429574-chr16:70469861..70473545,6	K562	blood:
4	chr16:70426372..70429310-chr16:70432406..70434780,2	K562	blood:

No data

Variant related genes	Relation type
ST3GAL2	TF binding region
ENSG00000157350	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17882065	1.00[AMR][1000 genomes]
rs28420658	1.00[AMR][1000 genomes]
rs28523566	1.00[AMR][1000 genomes]
rs7184495	0.83[MKK][hapmap]
rs7187629	1.00[AMR][1000 genomes]
rs7192564	1.00[AMR][1000 genomes]
rs7195180	1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs7196338	1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7202183	1.00[AMR][1000 genomes]
rs7205416	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8043683	1.00[AMR][1000 genomes]
rs8048007	1.00[AMR][1000 genomes]
rs8058557	1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8059844	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8060051	1.00[AMR][1000 genomes]
rs9936419	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482577	chr16:70329048-70516069	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
2	nsv833272	chr16:70369769-70569723	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	58 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	chr16:70415800-70442000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr16:70416000-70429200	Weak transcription	Colonic Mucosa	Colon
3	chr16:70416000-70429400	Weak transcription	Pancreas	Pancrea
4	chr16:70416000-70430000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr16:70416000-70432200	Weak transcription	Gastric	stomach
6	chr16:70416000-70433400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr16:70416000-70435000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr16:70416000-70435600	Strong transcription	Fetal Stomach	stomach
9	chr16:70416000-70437600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr16:70416000-70438000	Weak transcription	Small Intestine	intestine
11	chr16:70416000-70438000	Weak transcription	HUVEC	blood vessel
12	chr16:70416200-70429200	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr16:70416200-70429200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr16:70416200-70432200	Weak transcription	Rectal Smooth Muscle	rectum
15	chr16:70416200-70437000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chr16:70416200-70437000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr16:70416400-70434600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr16:70416600-70428800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr16:70416600-70431800	Weak transcription	Brain Angular Gyrus	brain
20	chr16:70420400-70429400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr16:70422000-70429400	Strong transcription	K562	blood
22	chr16:70422400-70430400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr16:70422400-70431800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr16:70422400-70432200	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr16:70422600-70430400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr16:70422600-70430400	Weak transcription	Ovary	ovary
27	chr16:70422600-70431800	Weak transcription	Aorta	Aorta
28	chr16:70422600-70432000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr16:70422600-70432000	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr16:70422600-70432000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr16:70422600-70432000	Weak transcription	Brain Substantia Nigra	brain
32	chr16:70422800-70429200	Weak transcription	Primary T helper cells PMA-I stimulated	--
33	chr16:70422800-70430200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr16:70422800-70441400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr16:70422800-70441600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr16:70423800-70429000	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr16:70423800-70429800	Strong transcription	HUES6 Cell Line	embryonic stem cell
38	chr16:70424000-70429200	Strong transcription	Fetal Lung	lung
39	chr16:70424200-70434600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr16:70424400-70429000	Strong transcription	Primary T cells from cord blood	blood
41	chr16:70424400-70429000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr16:70424400-70429400	Strong transcription	GM12878-XiMat	blood
43	chr16:70424400-70430400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr16:70424400-70435400	Strong transcription	HepG2	liver
45	chr16:70424800-70434600	Strong transcription	Fetal Thymus	thymus
46	chr16:70425200-70429200	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr16:70425200-70432000	Weak transcription	Brain Anterior Caudate	brain
48	chr16:70425400-70429000	Strong transcription	Fetal Intestine Large	intestine
49	chr16:70425400-70429400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr16:70425400-70429400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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