Variant report

Variant	rs2291276
Chromosome Location	chr15:72195718-72195719
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 76 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs12902160	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12902421	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12905794	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12905947	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12906244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12907359	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12908863	1.00[AMR][1000 genomes]
rs12910475	1.00[AMR][1000 genomes]
rs12910620	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12910700	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12911278	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12914208	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12914312	1.00[AMR][1000 genomes]
rs12914936	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12915008	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12916039	1.00[AMR][1000 genomes]
rs12916298	1.00[AMR][1000 genomes]
rs12916789	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs12917442	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2277543	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2291277	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2306487	1.00[MEX][hapmap]
rs2306577	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2306578	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28485920	1.00[MEX][hapmap]
rs28552371	1.00[MEX][hapmap]
rs28602607	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34023258	1.00[AMR][1000 genomes]
rs34343226	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34362323	1.00[AMR][1000 genomes]
rs34454276	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34481625	1.00[AMR][1000 genomes]
rs34505994	1.00[AMR][1000 genomes]
rs34638996	1.00[AMR][1000 genomes]
rs34694253	1.00[AMR][1000 genomes]
rs34705283	1.00[AMR][1000 genomes]
rs34846563	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35061524	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35071085	1.00[AMR][1000 genomes]
rs35135570	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35136885	1.00[AMR][1000 genomes]
rs35144689	1.00[AMR][1000 genomes]
rs35145719	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35200902	1.00[AMR][1000 genomes]
rs35259670	1.00[AMR][1000 genomes]
rs35288005	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35362359	1.00[AMR][1000 genomes]
rs35408293	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs35491098	0.87[ASN][1000 genomes]
rs35554838	1.00[AMR][1000 genomes]
rs35836103	1.00[AMR][1000 genomes]
rs36032558	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3759815	1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3759817	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs3759819	0.87[ASN][1000 genomes]
rs3759821	0.87[ASN][1000 genomes]
rs55935015	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs71395046	1.00[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs71395049	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs71395050	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs71395056	1.00[AMR][1000 genomes]
rs71395057	1.00[AMR][1000 genomes]
rs71395058	1.00[AMR][1000 genomes]
rs71395061	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv569906	chr15:72126034-72218036	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	nsv569907	chr15:72154000-72215065	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv569908	chr15:72154000-72218036	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
11	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
12	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

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72122600-72195800	Weak transcription	Gastric	stomach
2	chr15:72142600-72199200	Weak transcription	Hela-S3	cervix
3	chr15:72144600-72223400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr15:72161000-72211000	Weak transcription	Small Intestine	intestine
5	chr15:72164000-72218400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr15:72167000-72197800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr15:72173000-72200600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr15:72185600-72198600	Weak transcription	A549	lung
9	chr15:72189200-72198000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr15:72189400-72196000	Strong transcription	NHDF-Ad	bronchial
11	chr15:72189400-72196800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr15:72189400-72196800	Strong transcription	Stomach Smooth Muscle	stomach
13	chr15:72189400-72197400	Strong transcription	Adipose Nuclei	Adipose
14	chr15:72189400-72197400	Strong transcription	Placenta	Placenta
15	chr15:72189400-72197600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr15:72189400-72197800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr15:72189800-72197200	Strong transcription	Liver	Liver
18	chr15:72189800-72197400	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr15:72190800-72203800	Weak transcription	HMEC	breast
20	chr15:72190800-72206400	Weak transcription	Brain Hippocampus Middle	brain
21	chr15:72191000-72198600	Weak transcription	Fetal Brain Male	brain
22	chr15:72191000-72199200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr15:72191000-72222800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr15:72191200-72195800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr15:72191200-72196200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr15:72191200-72197800	Weak transcription	Right Ventricle	heart
27	chr15:72191200-72198600	Weak transcription	Brain Anterior Caudate	brain
28	chr15:72191200-72200800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr15:72191200-72206000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr15:72191200-72206000	Weak transcription	Ovary	ovary
31	chr15:72191200-72229600	Weak transcription	HUVEC	blood vessel
32	chr15:72191600-72198400	Weak transcription	Colonic Mucosa	Colon
33	chr15:72191600-72198600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr15:72191600-72208000	Weak transcription	Colon Smooth Muscle	Colon
35	chr15:72192200-72198800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr15:72192400-72196000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr15:72192400-72196000	Weak transcription	Osteobl	bone
38	chr15:72192400-72196400	Weak transcription	Brain Germinal Matrix	brain
39	chr15:72192400-72198200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr15:72192400-72199400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr15:72192400-72201000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr15:72192400-72201000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr15:72192400-72201000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr15:72192400-72203000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr15:72192400-72205000	Weak transcription	GM12878-XiMat	blood
46	chr15:72192400-72208600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
47	chr15:72192400-72216000	Weak transcription	Fetal Intestine Large	intestine
48	chr15:72192400-72218400	Weak transcription	Esophagus	oesophagus
49	chr15:72192400-72218400	Weak transcription	Lung	lung
50	chr15:72192400-72218600	Weak transcription	Sigmoid Colon	Sigmoid Colon

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