Variant report

Variant	rs16856096
Chromosome Location	chr1:180496884-180496885
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:180495342..180496951-chr1:180619499..180622464,2	K562	blood:
2	chr1:180496778..180499562-chr1:180501152..180503837,3	K562	blood:
3	chr1:180491722..180497520-chr1:180497939..180503107,7	MCF-7	breast:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10798773	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16856047	1.00[ASN][1000 genomes]
rs16856099	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16856101	1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16856123	1.00[JPT][hapmap];0.88[YRI][hapmap];0.80[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17300950	0.85[JPT][hapmap]
rs4291460	1.00[EUR][1000 genomes]
rs56020568	1.00[EUR][1000 genomes]
rs56727952	1.00[ASN][1000 genomes]
rs58448569	1.00[EUR][1000 genomes]
rs61122637	1.00[EUR][1000 genomes]
rs61130309	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6665811	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6677338	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6685482	1.00[EUR][1000 genomes]
rs73035587	1.00[EUR][1000 genomes]
rs73035594	1.00[EUR][1000 genomes]
rs73037405	1.00[EUR][1000 genomes]
rs73037424	1.00[EUR][1000 genomes]
rs73048241	1.00[EUR][1000 genomes]
rs73048301	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73048326	1.00[EUR][1000 genomes]
rs73048331	1.00[EUR][1000 genomes]
rs73050233	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73050297	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73052305	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73052322	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7515944	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7533246	1.00[EUR][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	nsv1003359	chr1:180300936-180727561	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	nsv949311	chr1:180438895-180692815	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180486000-180499400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:180488000-180500400	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr1:180488600-180497000	Enhancers	Placenta	Placenta
4	chr1:180491000-180499400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:180491400-180499400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:180491600-180511200	Weak transcription	Psoas Muscle	Psoas
7	chr1:180492400-180499400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:180492400-180503000	Weak transcription	Pancreas	Pancrea
9	chr1:180492600-180498000	Weak transcription	HSMMtube	muscle
10	chr1:180493800-180497000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr1:180494000-180497200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr1:180494200-180502200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:180494200-180503000	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:180494400-180508200	Weak transcription	Right Ventricle	heart
15	chr1:180494600-180497000	Enhancers	Fetal Intestine Small	intestine
16	chr1:180494600-180503000	Weak transcription	Fetal Lung	lung
17	chr1:180494800-180497200	Enhancers	Fetal Intestine Large	intestine
18	chr1:180495000-180497000	Enhancers	Fetal Heart	heart
19	chr1:180495000-180497200	Enhancers	HMEC	breast
20	chr1:180495000-180499200	Weak transcription	Adipose Nuclei	Adipose
21	chr1:180495000-180499200	Weak transcription	Esophagus	oesophagus
22	chr1:180495000-180499200	Weak transcription	Lung	lung
23	chr1:180495000-180502200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:180495000-180503800	Weak transcription	Skeletal Muscle Female	skeletal muscle
25	chr1:180495200-180502600	Weak transcription	Brain Hippocampus Middle	brain
26	chr1:180495400-180497000	Enhancers	K562	blood
27	chr1:180496000-180497000	Enhancers	HSMM	muscle
28	chr1:180496200-180497000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:180496200-180497000	Enhancers	NH-A	brain
30	chr1:180496200-180497200	Enhancers	A549	lung
31	chr1:180496200-180497200	Enhancers	HUVEC	blood vessel
32	chr1:180496200-180498000	Enhancers	Muscle Satellite Cultured Cells	--
33	chr1:180496400-180497000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr1:180496400-180497000	Enhancers	NHEK	skin
35	chr1:180496400-180497000	Enhancers	Osteobl	bone
36	chr1:180496400-180497200	Enhancers	Aorta	Aorta
37	chr1:180496400-180499400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:180496600-180497000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:180496600-180499200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:180496600-180499400	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr1:180496600-180499600	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr1:180496600-180508000	Weak transcription	Right Atrium	heart
43	chr1:180496800-180499200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr1:180496800-180499200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:180496800-180499200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:180496800-180499200	Weak transcription	Hela-S3	cervix
47	chr1:180496800-180499200	Weak transcription	HepG2	liver
48	chr1:180496800-180503600	Weak transcription	Left Ventricle	heart

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