Variant report

Variant	rs334060
Chromosome Location	chr2:178995711-178995712
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178991529..178993061-chr2:178994695..178997315,2	K562	blood:
2	chr2:178986165..178987742-chr2:178994216..178996447,2	K562	blood:
3	chr2:178977795..178981676-chr2:178993113..178997821,5	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs12987593	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs12989423	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12989778	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13013828	1.00[CEU][hapmap];0.91[YRI][hapmap]
rs13033194	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13419755	1.00[ASN][1000 genomes]
rs334055	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334064	1.00[CEU][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334065	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334071	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs334073	0.88[AFR][1000 genomes]
rs334076	1.00[ASN][1000 genomes]
rs334077	1.00[ASN][1000 genomes]
rs34069002	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34395717	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34702539	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34927879	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35620189	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35938761	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6737266	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423553	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423554	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71423555	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv1009312	chr2:178924318-179215566	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv536057	chr2:178924318-179215566	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv518790	chr2:178963445-179000291	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv875452	chr2:178963445-179167766	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178978000-178996600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:178978000-178996600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:178978000-179001000	Weak transcription	Lung	lung
4	chr2:178978000-179002200	Weak transcription	Esophagus	oesophagus
5	chr2:178978000-179003200	Weak transcription	Spleen	Spleen
6	chr2:178978000-179003800	Weak transcription	Aorta	Aorta
7	chr2:178978000-179016400	Weak transcription	Gastric	stomach
8	chr2:178978200-178997400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:178978200-179002800	Weak transcription	Fetal Stomach	stomach
10	chr2:178978400-178997400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr2:178978400-179001200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr2:178978400-179001400	Weak transcription	Brain Substantia Nigra	brain
13	chr2:178978400-179001600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr2:178978400-179001800	Weak transcription	Brain Angular Gyrus	brain
15	chr2:178978600-178996000	Weak transcription	Stomach Mucosa	stomach
16	chr2:178978600-178998400	Weak transcription	Brain Cingulate Gyrus	brain
17	chr2:178978600-179001800	Weak transcription	Hela-S3	cervix
18	chr2:178978600-179003000	Weak transcription	Right Ventricle	heart
19	chr2:178978600-179003600	Weak transcription	Fetal Heart	heart
20	chr2:178978800-178997200	Weak transcription	NHEK	skin
21	chr2:178978800-179001000	Weak transcription	Pancreas	Pancrea
22	chr2:178978800-179004000	Weak transcription	Brain Germinal Matrix	brain
23	chr2:178979000-179005400	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr2:178979600-178998800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:178983800-178995800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
26	chr2:178983800-178996600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr2:178987200-179005800	Weak transcription	Psoas Muscle	Psoas
28	chr2:178987400-179002800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr2:178987800-179017000	Weak transcription	Fetal Lung	lung
30	chr2:178988400-179001800	Weak transcription	NHDF-Ad	bronchial
31	chr2:178988400-179002000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr2:178988600-179002800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:178988800-178996800	Weak transcription	Fetal Brain Male	brain
34	chr2:178989000-178999200	Weak transcription	NHLF	lung
35	chr2:178989400-178997000	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr2:178989400-178997200	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr2:178989400-179000400	Weak transcription	Colon Smooth Muscle	Colon
38	chr2:178989600-178997800	Weak transcription	Small Intestine	intestine
39	chr2:178989600-179000200	Weak transcription	Thymus	Thymus
40	chr2:178989600-179000400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr2:178989600-179001400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr2:178989600-179001600	Weak transcription	Ovary	ovary
43	chr2:178990200-178998000	Weak transcription	HSMM	muscle
44	chr2:178990200-179007000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr2:178990400-179003000	Weak transcription	HMEC	breast
46	chr2:178990600-178997200	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr2:178990600-178998400	Weak transcription	Brain Hippocampus Middle	brain
48	chr2:178990600-178999800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr2:178990600-179001800	Weak transcription	HepG2	liver
50	chr2:178990800-178997200	Weak transcription	Brain Inferior Temporal Lobe	brain

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