Variant report

Variant	rs1107593
Chromosome Location	chr16:75261329-75261330
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:75259564..75261896-chr16:75284703..75287235,2	K562	blood:
2	chr16:75182251..75184924-chr16:75259664..75261950,2	MCF-7	breast:
3	chr16:75258373..75260591-chr16:75260652..75263277,2	K562	blood:
4	chr16:75261304..75263525-chr16:75287372..75289617,2	K562	blood:
5	chr16:75260096..75262598-chr16:75274071..75277051,2	K562	blood:

Variant related genes	Relation type
ENSG00000050820	Chromatin interaction
ENSG00000240338	Chromatin interaction
ENSG00000184517	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1035540	0.84[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11149811	0.84[CEU][hapmap];1.00[AFR][1000 genomes];0.97[EUR][1000 genomes]
rs11641896	0.96[EUR][1000 genomes]
rs12918452	0.82[EUR][1000 genomes]
rs12924999	0.92[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1808427	0.92[CEU][hapmap];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1862738	0.92[EUR][1000 genomes]
rs2870471	0.85[CEU][hapmap];0.92[EUR][1000 genomes]
rs2870472	0.84[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3169330	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4737	0.92[CEU][hapmap];0.84[EUR][1000 genomes]
rs4888361	0.96[EUR][1000 genomes]
rs4888362	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs4888363	0.85[CEU][hapmap];0.92[EUR][1000 genomes]
rs4888364	0.95[EUR][1000 genomes]
rs4888365	1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6564239	0.84[CEU][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6564241	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6564243	0.96[EUR][1000 genomes]
rs7195938	0.82[CEU][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7202566	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs8048371	0.96[EUR][1000 genomes]
rs8048956	0.92[CEU][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8057145	0.92[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8059190	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8061356	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs889514	0.90[EUR][1000 genomes]
rs889515	0.92[CEU][hapmap];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9319481	0.81[CEU][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9927264	0.92[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs9928842	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer 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 target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv1056082	chr16:75004990-75295847	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv833282	chr16:75154171-75330634	Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv516504	chr16:75223491-75306402	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
7	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	esv1806781	chr16:75235390-75307470	Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
9	nsv906909	chr16:75236154-75316074	Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
10	esv1792587	chr16:75237936-75305783	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
11	nsv906910	chr16:75251299-75316074	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
12	nsv906911	chr16:75252526-75296247	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
13	nsv906912	chr16:75252526-75320827	Flanking Active TSS Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	esv1813349	chr16:75257361-75302684	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75251600-75261600	Weak transcription	HMEC	breast
2	chr16:75252600-75262000	Weak transcription	Brain Angular Gyrus	brain
3	chr16:75253200-75261800	Weak transcription	Brain Anterior Caudate	brain
4	chr16:75253200-75263400	Weak transcription	HSMMtube	muscle
5	chr16:75253400-75261400	Weak transcription	HSMM	muscle
6	chr16:75254000-75261400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr16:75254000-75261400	Weak transcription	NHDF-Ad	bronchial
8	chr16:75254000-75262400	Weak transcription	Brain Substantia Nigra	brain
9	chr16:75254000-75262400	Weak transcription	NH-A	brain
10	chr16:75254000-75267600	Weak transcription	Fetal Brain Male	brain
11	chr16:75254600-75268000	Weak transcription	GM12878-XiMat	blood
12	chr16:75256400-75261400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr16:75256400-75261600	Weak transcription	Aorta	Aorta
14	chr16:75256400-75266600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr16:75256600-75261400	Weak transcription	Gastric	stomach
16	chr16:75256600-75262000	Weak transcription	Ovary	ovary
17	chr16:75256600-75263000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr16:75256600-75267600	Weak transcription	Fetal Heart	heart
19	chr16:75256600-75267600	Weak transcription	Right Atrium	heart
20	chr16:75257400-75261600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr16:75257400-75261800	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr16:75258800-75261400	Weak transcription	Fetal Brain Female	brain
23	chr16:75258800-75262800	Weak transcription	Fetal Lung	lung
24	chr16:75259000-75262000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr16:75259000-75263200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr16:75259200-75261400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr16:75259200-75261400	Weak transcription	Brain Germinal Matrix	brain
28	chr16:75259200-75261400	Weak transcription	Esophagus	oesophagus
29	chr16:75259200-75261400	Enhancers	Placenta	Placenta
30	chr16:75259200-75261600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr16:75259200-75261800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr16:75259400-75261600	Weak transcription	NHEK	skin
33	chr16:75259400-75261800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr16:75259400-75267400	Weak transcription	Psoas Muscle	Psoas
35	chr16:75259600-75261400	Weak transcription	HUVEC	blood vessel
36	chr16:75259800-75261400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr16:75259800-75261600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr16:75259800-75262000	Weak transcription	Osteobl	bone
39	chr16:75260000-75261600	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr16:75260000-75267800	Weak transcription	Stomach Mucosa	stomach
41	chr16:75260200-75261800	Weak transcription	Fetal Intestine Large	intestine
42	chr16:75260200-75262000	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr16:75260200-75262000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr16:75260400-75262000	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr16:75260400-75262000	Weak transcription	Liver	Liver
46	chr16:75260400-75262000	Weak transcription	A549	lung
47	chr16:75260400-75263400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr16:75260600-75261400	Weak transcription	Left Ventricle	heart
49	chr16:75260600-75261600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr16:75260600-75261800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin

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