Variant report

Variant	rs12514198
Chromosome Location	chr5:43170654-43170655
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:43162871..43165014-chr5:43168849..43170795,2	K562	blood:
2	chr5:43169639..43171793-chr5:43280428..43283360,2	K562	blood:
3	chr5:43118556..43121377-chr5:43168999..43170798,2	K562	blood:

Variant related genes	Relation type
ENSG00000172262	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10050724	0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10512821	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1054428	1.00[CHD][hapmap]
rs10941609	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[MEX][hapmap]
rs11745619	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11746055	1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[MEX][hapmap]
rs11747314	1.00[ASN][1000 genomes]
rs11748138	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11748652	1.00[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12110174	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12514283	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs12522830	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17303015	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.90[MKK][hapmap];0.94[TSI][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1845485	1.00[ASW][hapmap];0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[MEX][hapmap];0.81[MKK][hapmap];1.00[TSI][hapmap];0.85[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2004946	1.00[ASN][1000 genomes]
rs35186274	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55714804	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55735646	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55740753	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55770582	1.00[ASN][1000 genomes]
rs55780226	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55967719	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56003146	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56081223	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6868031	1.00[ASN][1000 genomes]
rs6871615	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72748894	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72750768	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72752504	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752507	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752511	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752578	1.00[ASN][1000 genomes]
rs72752594	1.00[ASN][1000 genomes]
rs72752599	1.00[ASN][1000 genomes]
rs7730107	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv993554	chr5:42720939-43251863	Bivalent/Poised TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	298 gene(s)	inside rSNPs	diseases
2	nsv462126	chr5:42728831-43237188	Active TSS Enhancers Bivalent Enhancer Weak transcription Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
3	nsv597925	chr5:42728831-43237188	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	297 gene(s)	inside rSNPs	diseases
4	nsv1023741	chr5:42768215-43348145	Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
5	nsv537737	chr5:42768215-43348145	Genic enhancers Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	309 gene(s)	inside rSNPs	diseases
6	nsv1024636	chr5:42959979-43295782	Active TSS Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
7	nsv537739	chr5:42959979-43295782	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	283 gene(s)	inside rSNPs	diseases
8	nsv830274	chr5:43095551-43226087	Strong transcription Transcr. at gene 5' and 3' Genic enhancers Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	138 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43122800-43174200	Weak transcription	Colonic Mucosa	Colon
2	chr5:43124000-43183000	Weak transcription	Small Intestine	intestine
3	chr5:43127600-43178000	Strong transcription	Dnd41	blood
4	chr5:43143400-43178200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:43155200-43177200	Weak transcription	Fetal Heart	heart
6	chr5:43155800-43176600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:43156000-43178200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr5:43156200-43174600	Weak transcription	Right Ventricle	heart
9	chr5:43156600-43191200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:43156800-43174200	Weak transcription	Gastric	stomach
11	chr5:43156800-43177600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr5:43157000-43173400	Weak transcription	Brain Substantia Nigra	brain
13	chr5:43157000-43178400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr5:43161400-43176800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:43162000-43173000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr5:43162000-43173400	Weak transcription	HSMMtube	muscle
17	chr5:43162000-43174000	Weak transcription	NHLF	lung
18	chr5:43162000-43174600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr5:43162000-43174600	Weak transcription	Esophagus	oesophagus
20	chr5:43162000-43174600	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr5:43162000-43176600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr5:43162000-43191600	Weak transcription	Fetal Brain Male	brain
23	chr5:43162200-43173400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr5:43162200-43173600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr5:43162600-43174600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr5:43163400-43175800	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr5:43163600-43171400	Weak transcription	A549	lung
28	chr5:43163600-43173400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr5:43163800-43174600	Weak transcription	Pancreas	Pancrea
30	chr5:43163800-43174600	Weak transcription	Spleen	Spleen
31	chr5:43163800-43174800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:43163800-43191800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr5:43164200-43174600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr5:43164400-43172000	Weak transcription	NHEK	skin
35	chr5:43164400-43172800	Weak transcription	Osteobl	bone
36	chr5:43164400-43173400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr5:43164400-43191200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
38	chr5:43164600-43172800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr5:43164600-43173200	Weak transcription	Brain Germinal Matrix	brain
40	chr5:43164600-43174400	Weak transcription	Brain Angular Gyrus	brain
41	chr5:43164600-43174400	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr5:43164800-43171200	Weak transcription	Fetal Intestine Small	intestine
43	chr5:43164800-43171400	Weak transcription	Fetal Lung	lung
44	chr5:43164800-43172800	Weak transcription	HSMM	muscle
45	chr5:43165000-43171400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr5:43165000-43173400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr5:43165000-43174400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr5:43165000-43191200	Weak transcription	Colon Smooth Muscle	Colon
49	chr5:43165200-43174200	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr5:43165600-43174200	Weak transcription	Brain Hippocampus Middle	brain

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