Variant report

Variant	rs57869567
Chromosome Location	chr16:81714634-81714635
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:81709931..81712989-chr16:81713808..81717096,4	K562	blood:
2	chr16:81695255..81697707-chr16:81713897..81716824,2	MCF-7	breast:
3	chr16:81713510..81715254-chr16:81720788..81723045,2	K562	blood:
4	chr16:81714581..81716604-chr16:81718117..81720383,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11150400	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11639612	0.82[ASN][1000 genomes]
rs11641014	0.81[ASN][1000 genomes]
rs11642818	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11644382	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs11646472	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11647444	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13334224	0.81[ASN][1000 genomes]
rs2873480	0.83[ASN][1000 genomes]
rs3751857	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4888165	0.83[ASN][1000 genomes]
rs4888167	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4889362	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4889363	0.82[AMR][1000 genomes]
rs4889364	0.84[ASN][1000 genomes]
rs4889365	0.84[ASN][1000 genomes]
rs4889366	0.84[ASN][1000 genomes]
rs60107344	0.81[ASN][1000 genomes]
rs67084911	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs68056614	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72831113	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs74031237	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs74031241	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8055386	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[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	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
2	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
3	nsv907011	chr16:81639190-81757252	Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	esv3374261	chr16:81710051-81715149	Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	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	chr16:81682400-81722400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr16:81683600-81715600	Strong transcription	Primary T cells from cord blood	blood
3	chr16:81683800-81721800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:81684400-81722200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr16:81684400-81722200	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr16:81686600-81715400	Strong transcription	Placenta	Placenta
7	chr16:81686600-81721600	Weak transcription	NH-A	brain
8	chr16:81686600-81725000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr16:81688400-81736800	Weak transcription	NHDF-Ad	bronchial
10	chr16:81689800-81722200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
11	chr16:81689800-81722400	Strong transcription	Fetal Intestine Large	intestine
12	chr16:81691200-81721200	Strong transcription	Liver	Liver
13	chr16:81695200-81717000	Strong transcription	NHEK	skin
14	chr16:81698800-81721400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr16:81699200-81725600	Weak transcription	Osteobl	bone
16	chr16:81699400-81715400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr16:81699400-81726000	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr16:81701000-81725200	Weak transcription	Aorta	Aorta
19	chr16:81701200-81722200	Strong transcription	Fetal Intestine Small	intestine
20	chr16:81702000-81715400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr16:81702200-81721800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr16:81702200-81722200	Strong transcription	HepG2	liver
23	chr16:81702600-81721600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr16:81703200-81722200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr16:81703400-81715800	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr16:81703400-81719000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr16:81703600-81716000	Strong transcription	Primary B cells from cord blood	blood
28	chr16:81703800-81717000	Strong transcription	Fetal Thymus	thymus
29	chr16:81703800-81717200	Strong transcription	Thymus	Thymus
30	chr16:81704200-81724600	Weak transcription	Hela-S3	cervix
31	chr16:81706600-81725200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr16:81708000-81721200	Weak transcription	GM12878-XiMat	blood
33	chr16:81708800-81715200	Genic enhancers	Fetal Stomach	stomach
34	chr16:81709200-81716800	Strong transcription	Primary hematopoietic stem cells	blood
35	chr16:81709200-81716800	Strong transcription	Placenta Amnion	Placenta Amnion
36	chr16:81709200-81717400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr16:81709400-81715400	Genic enhancers	Fetal Muscle Trunk	muscle
38	chr16:81709600-81715400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr16:81709600-81715400	Strong transcription	Dnd41	blood
40	chr16:81710400-81715400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr16:81710400-81715400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr16:81710800-81714800	Genic enhancers	Esophagus	oesophagus
43	chr16:81710800-81715200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr16:81710800-81715800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr16:81711000-81715400	Strong transcription	H9 Cell Line	embryonic stem cell
46	chr16:81711000-81715400	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr16:81711000-81715800	Strong transcription	Fetal Brain Female	brain
48	chr16:81711000-81717000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr16:81711200-81715400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr16:81711200-81715400	Strong transcription	Brain Germinal Matrix	brain

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