Variant report

Variant	rs12594621
Chromosome Location	chr15:44657647-44657648
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 101 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs10152710	0.88[EUR][1000 genomes]
rs1021800	0.88[EUR][1000 genomes]
rs10467977	0.94[EUR][1000 genomes]
rs12591178	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12591581	0.88[EUR][1000 genomes]
rs12591811	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12592995	0.94[EUR][1000 genomes]
rs12593125	0.94[EUR][1000 genomes]
rs12593325	0.88[EUR][1000 genomes]
rs12593686	0.82[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12593943	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12594110	0.88[EUR][1000 genomes]
rs12594139	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12594167	0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12594645	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12594746	0.94[EUR][1000 genomes]
rs12595484	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17551416	0.88[EUR][1000 genomes]
rs2055061	0.94[EUR][1000 genomes]
rs2288341	0.88[EUR][1000 genomes]
rs2288342	0.94[EUR][1000 genomes]
rs2303577	0.88[EUR][1000 genomes]
rs2303578	0.82[EUR][1000 genomes]
rs2412883	0.94[EUR][1000 genomes]
rs2412909	0.94[EUR][1000 genomes]
rs2433350	0.94[EUR][1000 genomes]
rs2555353	0.94[EUR][1000 genomes]
rs2556566	0.94[EUR][1000 genomes]
rs2556567	0.88[EUR][1000 genomes]
rs28508235	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28561508	0.94[EUR][1000 genomes]
rs2899113	0.88[EUR][1000 genomes]
rs35555389	0.94[EUR][1000 genomes]
rs3784565	0.94[EUR][1000 genomes]
rs3784567	0.94[EUR][1000 genomes]
rs3809471	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3816928	0.94[EUR][1000 genomes]
rs3986142	0.94[EUR][1000 genomes]
rs3986143	0.94[EUR][1000 genomes]
rs4415978	0.94[EUR][1000 genomes]
rs4477677	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4577056	0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4924746	0.96[ASN][1000 genomes]
rs57270586	0.94[EUR][1000 genomes]
rs58956090	0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs59230801	0.94[EUR][1000 genomes]
rs59997416	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60003667	0.94[EUR][1000 genomes]
rs60399672	0.94[EUR][1000 genomes]
rs61185650	0.94[EUR][1000 genomes]
rs61234123	0.94[EUR][1000 genomes]
rs61258861	0.94[EUR][1000 genomes]
rs61278540	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61329003	0.94[EUR][1000 genomes]
rs61501839	0.94[EUR][1000 genomes]
rs6493103	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7162671	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7162802	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7163529	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7164709	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7166278	0.94[EUR][1000 genomes]
rs7166945	0.94[EUR][1000 genomes]
rs7167752	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7169333	0.94[EUR][1000 genomes]
rs7170248	0.94[EUR][1000 genomes]
rs7172106	0.94[EUR][1000 genomes]
rs7175200	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7178318	0.94[EUR][1000 genomes]
rs7179894	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7181772	0.94[EUR][1000 genomes]
rs7183109	0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8023453	0.94[EUR][1000 genomes]
rs8024623	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8024805	0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8025727	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8025876	0.94[EUR][1000 genomes]
rs8025955	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8026945	0.94[EUR][1000 genomes]
rs8027036	0.94[EUR][1000 genomes]
rs8028509	0.94[EUR][1000 genomes]
rs8028907	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs8032079	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8037395	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs883943	0.94[EUR][1000 genomes]
rs9672237	0.94[EUR][1000 genomes]
rs9673085	0.94[EUR][1000 genomes]
rs9806725	0.89[EUR][1000 genomes];0.93[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	nsv431387	chr15:43929378-44862930	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
2	nsv931051	chr15:43988761-44833518	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	154 gene(s)	inside rSNPs	diseases
3	nsv1052511	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv542371	chr15:44266441-44719023	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	esv3410956	chr15:44425145-44823647	Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
6	nsv1044686	chr15:44489534-44697482	Strong transcription Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
7	nsv1043822	chr15:44491220-44686957	Weak transcription ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv1035386	chr15:44498905-44677174	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv904177	chr15:44582886-44821843	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv569299	chr15:44598642-44776075	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
11	nsv904178	chr15:44609796-44724287	Active TSS Weak transcription Strong transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
12	nsv569300	chr15:44609796-44763598	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
13	nsv904179	chr15:44614684-44821843	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
14	esv3386433	chr15:44654644-45037538	Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	135 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:44582800-44672200	Weak transcription	HSMM	muscle
2	chr15:44640800-44672000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr15:44641000-44666600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr15:44641000-44668800	Weak transcription	Brain Substantia Nigra	brain
5	chr15:44641000-44677000	Weak transcription	Brain Anterior Caudate	brain
6	chr15:44641000-44681600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr15:44641000-44696000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr15:44641200-44666600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr15:44641200-44671800	Weak transcription	Brain Hippocampus Middle	brain
10	chr15:44641200-44673000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr15:44641200-44677200	Weak transcription	HepG2	liver
12	chr15:44641200-44696000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr15:44641400-44682200	Weak transcription	Colonic Mucosa	Colon
14	chr15:44644800-44662600	Weak transcription	Primary B cells from cord blood	blood
15	chr15:44647400-44664600	Weak transcription	Primary T cells from cord blood	blood
16	chr15:44647400-44666000	Weak transcription	Dnd41	blood
17	chr15:44647400-44666800	Weak transcription	Lung	lung
18	chr15:44647400-44671800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr15:44647400-44677200	Weak transcription	Osteobl	bone
20	chr15:44647400-44682000	Weak transcription	NHLF	lung
21	chr15:44647600-44666400	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr15:44647600-44666400	Weak transcription	Thymus	Thymus
23	chr15:44647600-44671800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr15:44647600-44672200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:44647600-44677800	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr15:44647600-44685800	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr15:44647600-44686400	Weak transcription	NHEK	skin
28	chr15:44647600-44692400	Weak transcription	Fetal Kidney	kidney
29	chr15:44647600-44710200	Weak transcription	Left Ventricle	heart
30	chr15:44647800-44662200	Weak transcription	Aorta	Aorta
31	chr15:44647800-44662800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr15:44647800-44666400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr15:44647800-44672200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr15:44647800-44672200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr15:44647800-44692800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr15:44648000-44689400	Weak transcription	Gastric	stomach
37	chr15:44651000-44672400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr15:44651200-44662200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr15:44655600-44662200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr15:44655800-44718400	Weak transcription	Fetal Brain Female	brain
41	chr15:44656600-44671800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr15:44657000-44719000	Weak transcription	Spleen	Spleen
43	chr15:44657400-44666400	Weak transcription	Primary T helper cells fromperipheralblood	blood

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