Variant report

Variant	rs12713795
Chromosome Location	chr2:73959935-73959936
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 115 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10172044	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10191988	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10193032	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10200762	0.82[EUR][1000 genomes]
rs10203740	0.88[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10208995	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11126414	0.87[CEU][hapmap];0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11126415	0.92[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11126416	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11126417	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11891140	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11892172	1.00[CEU][hapmap];0.85[CHB][hapmap];0.81[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11894953	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12052539	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12053242	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12233112	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12233115	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12611487	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12612423	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12615807	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12619258	0.88[CEU][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12624267	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12713788	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12713789	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12713790	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12713791	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12713793	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12713794	0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12713797	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12713798	1.00[CEU][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12992607	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12997568	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12998980	0.88[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13000788	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13003035	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13005729	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13006448	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13006598	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13013228	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13014700	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13015885	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13020517	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13031853	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13031866	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13033744	0.91[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13383097	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17009372	0.84[CHB][hapmap];0.83[JPT][hapmap]
rs17350056	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17350125	0.92[CEU][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17350188	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17434634	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs17434655	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1806683	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1815028	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2001436	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2001490	0.88[CEU][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2006997	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2012574	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2116367	1.00[CEU][hapmap];0.81[CHB][hapmap];0.81[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2272051	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2272178	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2421557	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2421558	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2421559	0.96[CEU][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2421575	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2421672	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.82[YRI][hapmap];0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2421674	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2421675	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2421676	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2421677	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2462127	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs35498419	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35528262	0.82[EUR][1000 genomes]
rs35767294	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35791379	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3813228	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3980695	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4241257	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4358149	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4513320	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4530394	0.86[EUR][1000 genomes]
rs4852316	0.91[EUR][1000 genomes]
rs4852972	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4852975	0.87[CEU][hapmap];0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4852976	0.91[CEU][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4852977	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4852978	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6732812	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6748233	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6749841	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6750494	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6750515	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6750877	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6755500	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7210	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs732778	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7368570	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs7370393	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7558546	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7591112	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7597302	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7599453	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs891695	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs891696	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9309475	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9309476	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428051	chr2:73717032-74030067	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers 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	22 gene(s)	inside rSNPs	diseases
2	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1013385	chr2:73822056-74041441	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv874276	chr2:73847024-73964214	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv834260	chr2:73906106-74076520	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats 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	33 gene(s)	inside rSNPs	diseases
7	nsv998315	chr2:73919185-74003998	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
8	nsv1000675	chr2:73919185-74038946	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv1003153	chr2:73927235-73975416	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12713795	ALMS1	Cis_1M	lymphoblastoid	RTeQTL
rs12713795	TPRKB	Cis_1M	lymphoblastoid	RTeQTL
rs12713795	ALMS1P	cis	Nerve Tibial	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73944600-73963000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:73944600-73963600	Weak transcription	Stomach Mucosa	stomach
3	chr2:73953200-73963600	Weak transcription	Small Intestine	intestine
4	chr2:73954000-73963000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr2:73954600-73961400	Strong transcription	Primary T cells from cord blood	blood
6	chr2:73954600-73962000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:73954600-73963600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr2:73954800-73961000	Strong transcription	A549	lung
9	chr2:73954800-73962000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:73954800-73962000	Strong transcription	Fetal Stomach	stomach
11	chr2:73954800-73962200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:73954800-73962200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:73955000-73960800	Strong transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:73955000-73961000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr2:73955000-73961000	Strong transcription	Adipose Nuclei	Adipose
16	chr2:73955000-73961200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:73955000-73961800	Strong transcription	Liver	Liver
18	chr2:73955000-73961800	Strong transcription	Duodenum Mucosa	Duodenum
19	chr2:73955000-73961800	Strong transcription	Dnd41	blood
20	chr2:73955000-73962000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr2:73955000-73962000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr2:73955000-73962000	Strong transcription	Primary T helper cells PMA-I stimulated	--
23	chr2:73955000-73962000	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr2:73955000-73962000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr2:73955000-73962000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:73955000-73962000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr2:73955000-73962000	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr2:73955000-73962200	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr2:73955000-73962200	Strong transcription	Primary B cells from peripheral blood	blood
30	chr2:73955000-73962800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr2:73955200-73960800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr2:73955200-73961000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:73955200-73961200	Strong transcription	Placenta	Placenta
34	chr2:73955200-73961600	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr2:73955200-73962000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:73955200-73962000	Strong transcription	Fetal Thymus	thymus
37	chr2:73955400-73961000	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:73955400-73961200	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr2:73955800-73960800	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr2:73955800-73961200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr2:73955800-73962000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:73956000-73963600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr2:73956200-73960200	Weak transcription	Brain Substantia Nigra	brain
44	chr2:73956200-73960400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr2:73956200-73963200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr2:73956200-73963600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr2:73956200-73963600	Weak transcription	Right Ventricle	heart
48	chr2:73956400-73963800	Weak transcription	Pancreas	Pancrea
49	chr2:73956800-73962200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:73956800-73963400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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