Variant report

Variant	rs12132221
Chromosome Location	chr1:171685694-171685695
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:171683036..171685816-chr1:171686230..171688004,2	MCF-7	breast:
2	chr1:171613767..171614432-chr1:171685019..171685719,2	K562	blood:
3	chr1:171624474..171625267-chr1:171684716..171685707,4	MCF-7	breast:

Extended variants
information (count: 61 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1001373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10489249	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10489251	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1052676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10903	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10913489	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10913490	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10913492	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10913511	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10913514	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10913529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10913565	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10913582	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10913587	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11576221	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11577073	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11577197	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11577745	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11578179	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11578699	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11578723	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11579698	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11580415	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11580522	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11583920	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11590680	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11590714	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11799420	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs11801846	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11803174	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11808099	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11811780	0.85[EUR][1000 genomes]
rs12119232	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12123727	0.83[EUR][1000 genomes]
rs12127026	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12128536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs15655	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17649050	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17649068	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2298914	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2421911	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3766653	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55670848	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58455759	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6656003	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6659874	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6667559	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6669263	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6678890	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6679354	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7528057	0.83[EUR][1000 genomes]
rs7536436	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7536543	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9661596	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9662174	0.81[EUR][1000 genomes]
rs9662853	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv14617	chr1:171016086-171726961	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats 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 miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3512995	chr1:171329123-171994470	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats 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	56 gene(s)	inside rSNPs	diseases
3	esv3512997	chr1:171329123-171994470	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	esv12447	chr1:171556291-171726822	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	esv1800458	chr1:171667663-171701129	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs12132221	VAMP4	cis	multi-tissue	Pritchard
rs12132221	VAMP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:171664400-171685800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr1:171665000-171692000	Weak transcription	Brain Substantia Nigra	brain
3	chr1:171665600-171705600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:171665600-171708800	Weak transcription	Brain Angular Gyrus	brain
5	chr1:171666000-171705400	Weak transcription	Pancreas	Pancrea
6	chr1:171666600-171686200	Weak transcription	Gastric	stomach
7	chr1:171666800-171686800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr1:171666800-171692000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:171666800-171692000	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr1:171666800-171692200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:171666800-171702400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr1:171667000-171692000	Weak transcription	Fetal Brain Female	brain
13	chr1:171667000-171692200	Weak transcription	Brain Anterior Caudate	brain
14	chr1:171667600-171692000	Weak transcription	Fetal Lung	lung
15	chr1:171667800-171688400	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr1:171667800-171688800	Weak transcription	Spleen	Spleen
17	chr1:171667800-171692000	Weak transcription	Fetal Thymus	thymus
18	chr1:171668000-171685800	Weak transcription	Esophagus	oesophagus
19	chr1:171668600-171692400	Weak transcription	Brain Cingulate Gyrus	brain
20	chr1:171668800-171705400	Weak transcription	Right Ventricle	heart
21	chr1:171668800-171708200	Weak transcription	Small Intestine	intestine
22	chr1:171669400-171685800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr1:171669600-171685800	Weak transcription	NHEK	skin
24	chr1:171669600-171705400	Weak transcription	Fetal Brain Male	brain
25	chr1:171670000-171688200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:171670600-171692000	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:171672800-171685800	Weak transcription	K562	blood
28	chr1:171672800-171686200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr1:171672800-171692000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:171673600-171686800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr1:171674000-171696400	Weak transcription	HSMM	muscle
32	chr1:171674200-171686000	Weak transcription	Stomach Mucosa	stomach
33	chr1:171674600-171686000	Weak transcription	HSMMtube	muscle
34	chr1:171674600-171692200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr1:171674800-171696800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr1:171674800-171697200	Weak transcription	Ovary	ovary
37	chr1:171675200-171686200	Weak transcription	Psoas Muscle	Psoas
38	chr1:171675400-171685800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr1:171676800-171685800	Weak transcription	HMEC	breast
40	chr1:171677000-171692000	Weak transcription	GM12878-XiMat	blood
41	chr1:171677200-171685800	Weak transcription	Duodenum Mucosa	Duodenum
42	chr1:171677200-171685800	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr1:171677200-171692000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr1:171677200-171692200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:171677200-171698800	Weak transcription	Aorta	Aorta
46	chr1:171677400-171692200	Weak transcription	Brain Hippocampus Middle	brain
47	chr1:171678000-171692000	Weak transcription	Fetal Intestine Small	intestine
48	chr1:171678800-171692000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr1:171679000-171685800	Weak transcription	NHLF	lung
50	chr1:171679000-171686000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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