Variant report

Variant	rs16859377
Chromosome Location	chr2:172265873-172265874
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:172265755..172268604-chr2:172378756..172380414,2	K562	blood:
2	chr2:172260491..172264264-chr2:172264585..172267651,3	K562	blood:
3	chr2:172264138..172266023-chr2:172273310..172275434,2	K562	blood:
4	chr2:172264614..172267336-chr2:172269012..172271608,3	K562	blood:
5	chr2:172265528..172268533-chr2:172288621..172291396,3	MCF-7	breast:
6	chr2:172257799..172259945-chr2:172263821..172267063,3	K562	blood:
7	chr2:172261014..172263381-chr2:172264531..172266240,2	MCF-7	breast:
8	chr2:172265513..172268385-chr2:172270721..172272607,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000071967	Chromatin interaction
ENSG00000115827	Chromatin interaction
ENSG00000123600	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs16859368	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16859371	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16859373	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16859380	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16859386	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16859390	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16859404	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16859405	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16859410	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17287497	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1882378	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3731984	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3795996	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55711751	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55715902	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55716501	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55974181	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56065525	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56239048	0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56273218	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56302833	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57165050	0.88[EUR][1000 genomes]
rs61021737	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs61502503	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6759487	0.81[ASN][1000 genomes]
rs728651	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72882347	0.83[AFR][1000 genomes]
rs72882363	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs73021048	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73976175	0.92[EUR][1000 genomes]
rs9646734	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3382346	chr2:172062677-172363892	Weak transcription Enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172222200-172289600	Weak transcription	Gastric	stomach
2	chr2:172238000-172272400	Weak transcription	Fetal Intestine Large	intestine
3	chr2:172238800-172272400	Weak transcription	Primary T cells from cord blood	blood
4	chr2:172248000-172266000	Weak transcription	Left Ventricle	heart
5	chr2:172257000-172266000	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:172257600-172266000	Weak transcription	Aorta	Aorta
7	chr2:172258600-172272400	Weak transcription	A549	lung
8	chr2:172259400-172272200	Weak transcription	Fetal Intestine Small	intestine
9	chr2:172259800-172266000	Weak transcription	Esophagus	oesophagus
10	chr2:172260000-172271000	Weak transcription	K562	blood
11	chr2:172260200-172272200	Weak transcription	HepG2	liver
12	chr2:172261000-172266000	Enhancers	Primary B cells from peripheral blood	blood
13	chr2:172261400-172266000	Weak transcription	Small Intestine	intestine
14	chr2:172261600-172266000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:172261600-172266000	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:172261600-172266000	Weak transcription	Dnd41	blood
17	chr2:172261600-172266000	Weak transcription	NHLF	lung
18	chr2:172261600-172266200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr2:172261600-172277800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:172261800-172266000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr2:172261800-172266000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr2:172261800-172266000	Weak transcription	HSMM	muscle
23	chr2:172261800-172266000	Weak transcription	HUVEC	blood vessel
24	chr2:172261800-172266000	Weak transcription	NH-A	brain
25	chr2:172261800-172266000	Weak transcription	NHDF-Ad	bronchial
26	chr2:172262200-172266000	Weak transcription	Hela-S3	cervix
27	chr2:172262400-172268800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr2:172263200-172266000	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr2:172264200-172266000	Enhancers	iPS-20b Cell Line	embryonic stem cell
30	chr2:172264200-172266000	Weak transcription	Primary T cells fromperipheralblood	blood
31	chr2:172264200-172266000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:172264400-172266000	Weak transcription	Primary hematopoietic stem cells	blood
33	chr2:172264600-172266000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr2:172264800-172272400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr2:172265000-172272200	Weak transcription	Primary B cells from cord blood	blood
36	chr2:172265200-172266000	Enhancers	ES-I3 Cell Line	embryonic stem cell
37	chr2:172265200-172266000	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr2:172265200-172266000	Enhancers	iPS-15b Cell Line	embryonic stem cell
39	chr2:172265200-172266000	Enhancers	iPS-18 Cell Line	embryonic stem cell
40	chr2:172265200-172267200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:172265400-172266000	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr2:172265400-172266000	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr2:172265400-172266000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr2:172265400-172266000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:172265400-172266000	Enhancers	Ovary	ovary
46	chr2:172265400-172266000	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
47	chr2:172265400-172266400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr2:172265400-172266400	Flanking Active TSS	HMEC	breast
49	chr2:172265400-172267000	Enhancers	H9 Cell Line	embryonic stem cell
50	chr2:172265400-172267400	Enhancers	H1 Cell Line	embryonic stem cell

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