Variant report

Variant	rs4780422
Chromosome Location	chr16:12435028-12435029
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:12434411..12435246-chr16:12667446..12668002,2	MCF-7	breast:
2	chr16:12433483..12435044-chr16:12435490..12437605,2	K562	blood:
3	chr16:12426504..12430184-chr16:12432340..12435917,5	K562	blood:
4	chr16:12434404..12435162-chr16:12548365..12549293,2	MCF-7	breast:

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs11075061	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11075062	0.88[GIH][hapmap]
rs11645864	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11648255	0.92[EUR][1000 genomes]
rs11648926	0.84[EUR][1000 genomes]
rs12102400	0.85[EUR][1000 genomes]
rs12102608	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12148953	0.81[EUR][1000 genomes]
rs12445263	0.81[EUR][1000 genomes]
rs12445569	0.84[EUR][1000 genomes]
rs12446650	0.82[EUR][1000 genomes]
rs12448443	0.83[EUR][1000 genomes]
rs158467	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs16959318	0.88[EUR][1000 genomes]
rs176717	0.87[EUR][1000 genomes]
rs17697005	0.81[EUR][1000 genomes]
rs17764604	0.81[EUR][1000 genomes]
rs209834	0.84[EUR][1000 genomes]
rs209835	0.83[EUR][1000 genomes]
rs209839	0.82[EUR][1000 genomes]
rs209846	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs209849	0.87[EUR][1000 genomes]
rs209850	0.88[EUR][1000 genomes]
rs209851	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs209853	0.90[EUR][1000 genomes]
rs209855	0.87[EUR][1000 genomes]
rs209856	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2856771	0.81[EUR][1000 genomes]
rs289673	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs31679	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs35818743	0.83[EUR][1000 genomes]
rs476267	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4780418	0.81[EUR][1000 genomes]
rs4780423	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4781200	0.81[EUR][1000 genomes]
rs4781201	0.84[EUR][1000 genomes]
rs4781207	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs4781208	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4781209	0.92[CEU][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4781214	0.85[GIH][hapmap]
rs544598	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62039994	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6498278	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6498279	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7184477	0.91[EUR][1000 genomes]
rs7189386	0.81[EUR][1000 genomes]
rs7189945	0.83[EUR][1000 genomes]
rs7190509	1.00[CEU][hapmap];0.88[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7192102	0.80[EUR][1000 genomes]
rs7194981	0.82[EUR][1000 genomes]
rs7195024	0.88[CEU][hapmap]
rs7195981	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7199556	0.84[EUR][1000 genomes]
rs7201621	0.92[CEU][hapmap];0.93[EUR][1000 genomes]
rs7204209	0.82[EUR][1000 genomes]
rs7204333	0.80[EUR][1000 genomes]
rs8046012	0.81[EUR][1000 genomes]
rs8051758	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs868773	0.81[CEU][hapmap];0.87[CHB][hapmap];0.88[GIH][hapmap];0.80[TSI][hapmap];0.81[EUR][1000 genomes]
rs869289	0.91[CHB][hapmap];0.82[JPT][hapmap]
rs9284322	0.86[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9302469	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9939036	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043096	chr16:12013915-12840769	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv833141	chr16:12314613-12487992	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv457411	chr16:12363304-12520199	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv571462	chr16:12363304-12520199	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv571463	chr16:12367791-12783535	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv1045385	chr16:12376389-12517006	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv542748	chr16:12376389-12517006	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv905349	chr16:12408750-12445863	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv571464	chr16:12423557-12449778	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:12371400-12456800	Weak transcription	Aorta	Aorta
2	chr16:12405600-12442400	Weak transcription	Spleen	Spleen
3	chr16:12410000-12456600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr16:12410200-12464800	Weak transcription	Gastric	stomach
5	chr16:12415400-12435400	Weak transcription	Pancreas	Pancrea
6	chr16:12416800-12438600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr16:12418400-12438400	Weak transcription	Brain Anterior Caudate	brain
8	chr16:12425000-12435400	Weak transcription	Right Atrium	heart
9	chr16:12425200-12442200	Weak transcription	Psoas Muscle	Psoas
10	chr16:12425400-12442000	Weak transcription	GM12878-XiMat	blood
11	chr16:12426800-12447200	Weak transcription	Lung	lung
12	chr16:12428200-12435400	Weak transcription	Primary T cells from cord blood	blood
13	chr16:12428400-12442400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr16:12428400-12461200	Weak transcription	Thymus	Thymus
15	chr16:12430000-12435400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr16:12430400-12436600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr16:12430600-12435200	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr16:12432400-12435200	Weak transcription	Right Ventricle	heart
19	chr16:12432400-12435600	Weak transcription	Left Ventricle	heart
20	chr16:12432400-12436800	Weak transcription	Fetal Heart	heart
21	chr16:12432400-12437200	Weak transcription	Primary B cells from cord blood	blood
22	chr16:12432600-12438600	Weak transcription	Adipose Nuclei	Adipose
23	chr16:12433000-12437200	Weak transcription	Fetal Brain Male	brain
24	chr16:12433200-12436000	Enhancers	NHDF-Ad	bronchial
25	chr16:12433200-12436000	Enhancers	NHLF	lung
26	chr16:12433200-12436200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr16:12433400-12435800	Enhancers	HSMM	muscle
28	chr16:12433400-12436000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr16:12433400-12436200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr16:12433400-12436200	Enhancers	NHEK	skin
31	chr16:12433600-12435800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr16:12433600-12435800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr16:12433600-12435800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr16:12433600-12435800	Enhancers	HSMMtube	muscle
35	chr16:12433600-12436000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr16:12433600-12436200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr16:12433600-12436200	Enhancers	HUVEC	blood vessel
38	chr16:12433800-12436000	Enhancers	Muscle Satellite Cultured Cells	--
39	chr16:12433800-12438200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr16:12433800-12438800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr16:12434000-12436000	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr16:12434000-12436600	Weak transcription	Colon Smooth Muscle	Colon
43	chr16:12434000-12436600	Weak transcription	Fetal Muscle Trunk	muscle
44	chr16:12434200-12435800	Enhancers	Esophagus	oesophagus
45	chr16:12434200-12436000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr16:12434200-12436600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr16:12434200-12438200	Weak transcription	Brain Substantia Nigra	brain
48	chr16:12434400-12435800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr16:12434400-12436200	Enhancers	Osteobl	bone
50	chr16:12434400-12439200	Weak transcription	Brain Hippocampus Middle	brain

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