Variant report

Variant	rs62046586
Chromosome Location	chr16:81543813-81543814
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11861290	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11861411	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11861470	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11862343	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11865332	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11865841	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17674645	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17742269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17777059	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3803655	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55683214	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56147704	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62043959	0.85[ASN][1000 genomes]
rs62046565	0.85[AFR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62046579	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62046584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62046587	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62046588	0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72827197	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72827200	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs881005	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532569	chr16:80980356-81700149	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv1058519	chr16:81177767-81735333	Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
3	nsv948448	chr16:81198147-81906766	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers 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	37 gene(s)	inside rSNPs	diseases
4	nsv1057791	chr16:81515036-81644651	Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
5	nsv542993	chr16:81515036-81644651	Weak transcription Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
6	nsv457576	chr16:81525637-81579433	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
7	nsv573360	chr16:81525637-81579433	Bivalent Enhancer Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:81506000-81546600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr16:81506600-81547000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr16:81525400-81554800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr16:81527400-81544000	Genic enhancers	A549	lung
5	chr16:81527800-81546600	Weak transcription	HUES64 Cell Line	embryonic stem cell
6	chr16:81527800-81546600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr16:81528200-81547000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr16:81529000-81544000	Weak transcription	Hela-S3	cervix
9	chr16:81529000-81546800	Weak transcription	Dnd41	blood
10	chr16:81529200-81547000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr16:81531200-81545800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr16:81532400-81546800	Weak transcription	Gastric	stomach
13	chr16:81532800-81546600	Weak transcription	Stomach Smooth Muscle	stomach
14	chr16:81533000-81546600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr16:81533200-81546800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr16:81533600-81545400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr16:81533800-81545800	Weak transcription	Liver	Liver
18	chr16:81533800-81547000	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr16:81533800-81550000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr16:81534800-81546800	Weak transcription	Colonic Mucosa	Colon
21	chr16:81534800-81550000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr16:81535000-81544400	Weak transcription	HSMM	muscle
23	chr16:81535000-81544600	Weak transcription	NH-A	brain
24	chr16:81535000-81546800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr16:81535200-81544600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr16:81536200-81546600	Weak transcription	Right Atrium	heart
27	chr16:81536600-81546600	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr16:81536800-81545800	Weak transcription	Stomach Mucosa	stomach
29	chr16:81536800-81546600	Weak transcription	Fetal Intestine Large	intestine
30	chr16:81536800-81546600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr16:81537000-81546600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr16:81537000-81549400	Weak transcription	Fetal Brain Female	brain
33	chr16:81537800-81545800	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr16:81538000-81546400	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr16:81538800-81546000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr16:81539000-81544600	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr16:81539200-81544000	Weak transcription	HMEC	breast
38	chr16:81539200-81546600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr16:81539200-81546600	Weak transcription	Fetal Muscle Leg	muscle
40	chr16:81539200-81546600	Weak transcription	Fetal Thymus	thymus
41	chr16:81540000-81546800	Weak transcription	Spleen	Spleen
42	chr16:81540200-81546600	Weak transcription	Brain Hippocampus Middle	brain
43	chr16:81541000-81546800	Weak transcription	K562	blood
44	chr16:81541200-81545200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr16:81541400-81544000	Strong transcription	Fetal Stomach	stomach
46	chr16:81541400-81551400	Enhancers	HUVEC	blood vessel
47	chr16:81541600-81545800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr16:81541600-81546600	Weak transcription	Brain Substantia Nigra	brain
49	chr16:81541800-81544000	Strong transcription	HepG2	liver
50	chr16:81541800-81544400	Strong transcription	Fetal Intestine Small	intestine

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