Variant report

Variant	rs62041312
Chromosome Location	chr16:79788824-79788825
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:79785733..79789270-chr16:79790871..79794406,3	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs12443838	0.85[ASN][1000 genomes]
rs17690030	0.83[EUR][1000 genomes]
rs28414130	0.83[EUR][1000 genomes]
rs28687312	0.83[EUR][1000 genomes]
rs4313818	0.85[ASN][1000 genomes]
rs4458007	0.83[EUR][1000 genomes]
rs55981441	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs55993612	0.84[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56006814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56052219	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56119147	0.83[EUR][1000 genomes]
rs62041260	0.83[EUR][1000 genomes]
rs62041303	0.83[EUR][1000 genomes]
rs62041304	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62041307	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62041308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62041309	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62041310	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62041311	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62041313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62041316	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62041317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62041318	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62041319	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62041320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62041323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62041324	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62041325	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62041326	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62041327	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62041339	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62041344	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62041345	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62041346	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62041347	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62041348	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62041349	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs62043341	0.83[AFR][1000 genomes]
rs62043342	0.83[AFR][1000 genomes]
rs62043343	0.83[AFR][1000 genomes]
rs62043344	1.00[AFR][1000 genomes]
rs62043346	0.83[EUR][1000 genomes]
rs62043347	0.83[EUR][1000 genomes]
rs62043348	0.83[EUR][1000 genomes]
rs62043349	0.83[EUR][1000 genomes]
rs62043352	0.83[EUR][1000 genomes]
rs62043353	0.83[EUR][1000 genomes]
rs62043354	0.83[EUR][1000 genomes]
rs62043355	0.83[EUR][1000 genomes]
rs62043356	0.83[EUR][1000 genomes]
rs62043357	0.83[EUR][1000 genomes]
rs62043358	0.83[AFR][1000 genomes]
rs62043359	0.83[EUR][1000 genomes]
rs7187139	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8053535	0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv573285	chr16:79158182-80127326	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv530714	chr16:79661581-79925435	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv833296	chr16:79692236-79889727	Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv833297	chr16:79732501-79920419	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv2755409	chr16:79776699-79816299	Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:79783600-79789000	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr16:79785000-79789200	Enhancers	Fetal Intestine Small	intestine
3	chr16:79785000-79789400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr16:79785200-79789200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr16:79785200-79789200	Enhancers	Fetal Intestine Large	intestine
6	chr16:79786200-79789400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr16:79786200-79791800	Weak transcription	Esophagus	oesophagus
8	chr16:79786600-79789000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr16:79786600-79789200	Enhancers	Fetal Thymus	thymus
10	chr16:79787000-79789200	Enhancers	Colon Smooth Muscle	Colon
11	chr16:79787000-79792200	Weak transcription	NHLF	lung
12	chr16:79787200-79789200	Enhancers	Fetal Lung	lung
13	chr16:79787400-79792400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr16:79787600-79789200	Enhancers	Adipose Nuclei	Adipose
15	chr16:79787600-79789200	Enhancers	Fetal Stomach	stomach
16	chr16:79787800-79789200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr16:79787800-79789200	Enhancers	Primary T cells from cord blood	blood
18	chr16:79787800-79792600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr16:79788000-79789200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr16:79788000-79789200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr16:79788200-79789000	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr16:79788200-79789000	Enhancers	Osteobl	bone
23	chr16:79788200-79789400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr16:79788200-79789400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr16:79788400-79789000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr16:79788400-79789000	Enhancers	Right Atrium	heart
27	chr16:79788400-79789200	Enhancers	Primary hematopoietic stem cells	blood
28	chr16:79788400-79789200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr16:79788400-79789200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr16:79788400-79789200	Enhancers	Duodenum Smooth Muscle	Duodenum
31	chr16:79788400-79789200	Enhancers	Fetal Muscle Leg	muscle
32	chr16:79788400-79789200	Enhancers	HMEC	breast
33	chr16:79788400-79789400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr16:79788400-79789400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr16:79788400-79789400	Enhancers	NHEK	skin
36	chr16:79788600-79789000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr16:79788600-79789000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr16:79788600-79789000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
39	chr16:79788600-79789000	Enhancers	Duodenum Mucosa	Duodenum
40	chr16:79788600-79789000	Enhancers	Left Ventricle	heart
41	chr16:79788600-79789000	Enhancers	Small Intestine	intestine
42	chr16:79788600-79789200	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr16:79788600-79789200	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr16:79788600-79789200	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr16:79788600-79789200	Enhancers	Thymus	Thymus
46	chr16:79788600-79790600	Weak transcription	NHDF-Ad	bronchial

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