Variant report

Variant	rs12916789
Chromosome Location	chr15:72230854-72230855
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs12902160	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12902421	1.00[AMR][1000 genomes]
rs12905794	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12905947	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12906244	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12906356	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12906612	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12907359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12908241	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12908863	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12910475	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12910620	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12910700	1.00[AMR][1000 genomes]
rs12911278	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12914208	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12914312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12914936	1.00[AMR][1000 genomes]
rs12915008	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12916039	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12916298	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12917442	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2277543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2291276	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2291277	0.87[ASN][1000 genomes]
rs2306577	1.00[AMR][1000 genomes]
rs2306578	1.00[AMR][1000 genomes]
rs2957751	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2957752	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34023258	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34294127	0.87[ASN][1000 genomes]
rs34343226	1.00[AMR][1000 genomes]
rs34362323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34454276	1.00[AMR][1000 genomes]
rs34481625	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34505994	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34638996	1.00[AMR][1000 genomes]
rs34658339	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34694253	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs34705283	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34815962	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs34846563	1.00[AMR][1000 genomes]
rs35061524	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35071085	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35135570	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35136885	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs35144689	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35145719	1.00[AMR][1000 genomes]
rs35200902	1.00[AMR][1000 genomes]
rs35259670	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35288005	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35362359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35408293	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35491098	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35554838	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35836103	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36032558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3759815	1.00[AMR][1000 genomes]
rs3759817	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759819	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3759821	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55935015	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71395046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71395049	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71395050	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71395056	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71395057	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71395058	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71395061	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs71395066	1.00[AMR][1000 genomes];0.81[ASN][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	nsv1036938	chr15:71948106-72272855	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv3331306	chr15:72049818-72427559	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS 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	34 gene(s)	inside rSNPs	diseases
3	esv3433206	chr15:72049838-72427529	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv516871	chr15:72126034-72325595	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv1042740	chr15:72128799-72482239	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv542426	chr15:72128799-72482239	Flanking Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv904336	chr15:72145937-72329906	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	nsv457195	chr15:72177659-72250741	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
9	nsv569909	chr15:72177659-72250741	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv457197	chr15:72203517-72296328	Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv569910	chr15:72203517-72296328	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv569911	chr15:72203517-72305982	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
13	nsv457198	chr15:72203517-72325595	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
14	nsv569912	chr15:72203517-72325595	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72192400-72241200	Weak transcription	Brain Angular Gyrus	brain
2	chr15:72192400-72249400	Weak transcription	NHLF	lung
3	chr15:72193800-72232000	Weak transcription	Fetal Heart	heart
4	chr15:72219200-72232600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr15:72219200-72239000	Weak transcription	Aorta	Aorta
6	chr15:72222200-72232400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr15:72223800-72231000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:72225000-72231200	Weak transcription	Rectal Smooth Muscle	rectum
9	chr15:72225000-72231200	Strong transcription	HSMM	muscle
10	chr15:72225000-72231800	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr15:72225000-72232200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr15:72225000-72232400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr15:72225000-72232600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr15:72225000-72232600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr15:72225000-72246000	Weak transcription	Colonic Mucosa	Colon
16	chr15:72225000-72249400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr15:72225000-72249600	Weak transcription	NH-A	brain
18	chr15:72225000-72255400	Weak transcription	Left Ventricle	heart
19	chr15:72225000-72259800	Weak transcription	Brain Anterior Caudate	brain
20	chr15:72225000-72263600	Weak transcription	Fetal Stomach	stomach
21	chr15:72225000-72267600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr15:72225000-72281600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr15:72225000-72282000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr15:72225000-72305200	Weak transcription	Psoas Muscle	Psoas
25	chr15:72225000-72305600	Weak transcription	Gastric	stomach
26	chr15:72225200-72232200	Weak transcription	Brain Substantia Nigra	brain
27	chr15:72225200-72232400	Weak transcription	Brain Hippocampus Middle	brain
28	chr15:72225200-72233000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr15:72225200-72259200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr15:72225200-72265000	Weak transcription	Fetal Kidney	kidney
31	chr15:72225600-72232200	Weak transcription	HMEC	breast
32	chr15:72225800-72243800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr15:72225800-72243800	Weak transcription	Brain Germinal Matrix	brain
34	chr15:72225800-72270200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr15:72226200-72232400	Weak transcription	Stomach Smooth Muscle	stomach
36	chr15:72226200-72235200	Weak transcription	Brain Cingulate Gyrus	brain
37	chr15:72226400-72232400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr15:72226600-72281800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr15:72226800-72231000	Weak transcription	Placenta	Placenta
40	chr15:72226800-72232400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr15:72226800-72271200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr15:72226800-72343600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr15:72227000-72232200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr15:72227000-72232200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr15:72227000-72232400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr15:72227000-72252200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr15:72227200-72252200	Weak transcription	Fetal Muscle Leg	muscle
48	chr15:72227200-72254000	Weak transcription	Fetal Intestine Large	intestine
49	chr15:72227400-72253800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr15:72227600-72232200	Weak transcription	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links