Variant report

Variant	rs1056303
Chromosome Location	chr16:71670066-71670067
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:71668341..71670182-chr16:71677520..71679473,2	MCF-7	breast:
2	chr16:71659335..71662004-chr16:71667877..71670803,3	MCF-7	breast:
3	chr16:71668579..71670328-chr16:71676094..71677931,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260593	Chromatin interaction
ENSG00000140832	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10500560	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11640830	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11648483	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11670	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12445161	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12446005	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12448022	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12919271	0.81[EUR][1000 genomes]
rs12924631	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1345868	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34028112	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34358623	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34680964	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34731378	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61733127	0.87[ASN][1000 genomes]
rs61753635	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs71403864	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7185575	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7190257	0.95[ASN][1000 genomes]
rs7192860	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7197104	0.80[EUR][1000 genomes]
rs7205340	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8046629	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs8049163	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs8053623	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347477	chr16:71555148-71985177	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1063338	chr16:71612346-71752968	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv962218	chr16:71645202-71727606	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:71661000-71671000	Weak transcription	Right Atrium	heart
2	chr16:71661000-71674200	Weak transcription	Gastric	stomach
3	chr16:71661800-71682000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr16:71662000-71674200	Weak transcription	Lung	lung
5	chr16:71662200-71671200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr16:71662600-71682000	Weak transcription	Rectal Smooth Muscle	rectum
7	chr16:71662800-71673600	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr16:71663000-71670800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr16:71663200-71670600	Weak transcription	Osteobl	bone
10	chr16:71663200-71670800	Weak transcription	Ovary	ovary
11	chr16:71663200-71671000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr16:71663200-71673800	Weak transcription	Brain Hippocampus Middle	brain
13	chr16:71663200-71676800	Weak transcription	Fetal Kidney	kidney
14	chr16:71663400-71674200	Weak transcription	Adipose Nuclei	Adipose
15	chr16:71663400-71674200	Weak transcription	Aorta	Aorta
16	chr16:71663400-71674400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr16:71663400-71674400	Weak transcription	Esophagus	oesophagus
18	chr16:71663400-71678400	Weak transcription	Fetal Lung	lung
19	chr16:71663600-71686600	Weak transcription	Small Intestine	intestine
20	chr16:71663800-71673800	Weak transcription	Stomach Smooth Muscle	stomach
21	chr16:71663800-71674200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr16:71663800-71680600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr16:71663800-71681400	Weak transcription	Left Ventricle	heart
24	chr16:71663800-71681400	Weak transcription	HepG2	liver
25	chr16:71664000-71671000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr16:71664200-71670400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr16:71664600-71682800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr16:71665000-71671000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr16:71665200-71673000	Strong transcription	Fetal Intestine Large	intestine
30	chr16:71665200-71673800	Weak transcription	Liver	Liver
31	chr16:71665200-71674200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr16:71665200-71682800	Weak transcription	HMEC	breast
33	chr16:71665400-71674200	Weak transcription	Brain Germinal Matrix	brain
34	chr16:71666200-71671000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr16:71666200-71671000	Weak transcription	Fetal Heart	heart
36	chr16:71666200-71674200	Weak transcription	Placenta Amnion	Placenta Amnion
37	chr16:71666400-71671000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr16:71667000-71672000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr16:71668000-71673800	Weak transcription	Skeletal Muscle Female	skeletal muscle
40	chr16:71668000-71674200	Weak transcription	Fetal Brain Female	brain
41	chr16:71668000-71703000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr16:71668200-71681800	Weak transcription	Spleen	Spleen
43	chr16:71668600-71670800	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr16:71668600-71670800	Weak transcription	Duodenum Mucosa	Duodenum
45	chr16:71668600-71671000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr16:71668600-71671000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr16:71668600-71673000	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr16:71668600-71674000	Weak transcription	NHEK	skin
49	chr16:71668600-71674200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr16:71668600-71674400	Weak transcription	Colonic Mucosa	Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links