Variant report

Variant	rs1864414
Chromosome Location	chr10:45870561-45870562
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:45869730..45871343-chr10:45873216..45875986,2	K562	blood:
2	chr10:45869704..45872011-chr10:45875506..45878430,2	K562	blood:

Extended variants
information (count: 108 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:104)

rs_ID	r²[population]
rs10900212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11239486	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11239491	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11239492	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11239497	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11239505	0.93[ASN][1000 genomes]
rs11511619	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11511620	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11517281	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11523408	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12354712	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12354742	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12354994	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12356109	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12356140	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12358647	0.91[ASN][1000 genomes]
rs12359299	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12359302	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12360250	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12762303	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12763738	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12764778	0.99[ASN][1000 genomes]
rs12768010	0.98[ASN][1000 genomes]
rs12774369	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12783095	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12783182	0.90[ASN][1000 genomes]
rs12783895	0.80[ASN][1000 genomes]
rs17157728	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17157733	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17157736	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1864412	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1864413	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2082108	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2099170	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2303885	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2310776	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28395865	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34297550	0.90[ASN][1000 genomes]
rs34462692	0.87[ASN][1000 genomes]
rs34929604	0.80[ASN][1000 genomes]
rs34998367	0.90[ASN][1000 genomes]
rs35001574	0.88[ASN][1000 genomes]
rs35267934	0.90[ASN][1000 genomes]
rs35300270	0.81[ASN][1000 genomes]
rs35536930	0.81[ASN][1000 genomes]
rs35555369	0.83[ASN][1000 genomes]
rs35906360	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3780894	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3780896	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3780897	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3780898	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3780899	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3824613	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4986832	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4987105	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4987106	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55717607	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55787481	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55864145	0.98[ASN][1000 genomes]
rs55965812	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55978138	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55986122	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56150414	0.99[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56180358	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57063108	0.99[ASN][1000 genomes]
rs57398542	0.89[ASN][1000 genomes]
rs58167894	0.81[ASN][1000 genomes]
rs58238740	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58901177	0.99[ASN][1000 genomes]
rs59514896	0.81[ASN][1000 genomes]
rs60146827	0.81[ASN][1000 genomes]
rs60842538	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6413416	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6593478	0.86[ASN][1000 genomes]
rs6593482	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66489870	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67008983	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67491417	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7071714	0.90[ASN][1000 genomes]
rs7077891	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7080897	0.81[ASN][1000 genomes]
rs7081004	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7083500	0.85[ASN][1000 genomes]
rs7084793	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7085205	0.85[ASN][1000 genomes]
rs7093687	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7097429	0.81[ASN][1000 genomes]
rs71494771	0.81[ASN][1000 genomes]
rs71494772	0.86[ASN][1000 genomes]
rs71494775	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71494776	0.92[ASN][1000 genomes]
rs71494779	0.81[ASN][1000 genomes]
rs72561472	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs745986	0.93[ASN][1000 genomes]
rs7896861	0.90[ASN][1000 genomes]
rs7898465	0.90[ASN][1000 genomes]
rs7909740	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7909768	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7913488	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7917687	0.81[ASN][1000 genomes]
rs7918542	0.81[ASN][1000 genomes]
rs7919239	0.82[ASN][1000 genomes]
rs7921503	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9663661	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895105	chr10:45636867-45928822	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
2	nsv430166	chr10:45668894-46148794	Bivalent Enhancer Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv993428	chr10:45742877-46224333	Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv895107	chr10:45850300-45953767	Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs1864414	ALOX5	cis	parietal	SCAN
rs1864414	OR13A1	cis	cerebellum	SCAN
rs1864414	ALOX5	cis	cerebellum	SCAN
rs1864414	ALOX5	Cis_1M	lymphoblastoid	RTeQTL
rs1864414	ALOX5	cis	lymphoblastoid	seeQTL

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45868200-45870600	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr10:45868400-45870600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
3	chr10:45868400-45871000	Active TSS	Brain Substantia Nigra	brain
4	chr10:45868800-45870800	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
5	chr10:45869000-45870600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
6	chr10:45869000-45870800	Flanking Bivalent TSS/Enh	Placenta	Placenta
7	chr10:45869000-45871800	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr10:45869200-45871600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
9	chr10:45869400-45871000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
10	chr10:45869600-45870600	Flanking Active TSS	Right Ventricle	heart
11	chr10:45869600-45870800	Flanking Active TSS	Spleen	Spleen
12	chr10:45869600-45871000	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
13	chr10:45869800-45870600	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
14	chr10:45869800-45870600	Flanking Active TSS	Esophagus	oesophagus
15	chr10:45869800-45870600	Flanking Active TSS	Lung	lung
16	chr10:45869800-45870600	Flanking Bivalent TSS/Enh	Stomach Mucosa	stomach
17	chr10:45869800-45870600	Bivalent Enhancer	NH-A	brain
18	chr10:45869800-45870800	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr10:45869800-45870800	Flanking Active TSS	Pancreas	Pancrea
20	chr10:45869800-45871600	Flanking Active TSS	Hela-S3	cervix
21	chr10:45869800-45873000	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr10:45870000-45870600	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr10:45870000-45870600	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
24	chr10:45870000-45870600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
25	chr10:45870000-45870600	Flanking Active TSS	Gastric	stomach
26	chr10:45870000-45870600	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
27	chr10:45870000-45870800	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr10:45870000-45870800	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
29	chr10:45870000-45871200	Active TSS	Primary T cells from cord blood	blood
30	chr10:45870000-45871600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
31	chr10:45870000-45871800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
32	chr10:45870000-45876400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
33	chr10:45870200-45870600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
34	chr10:45870200-45870600	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr10:45870200-45870600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr10:45870200-45870600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
37	chr10:45870200-45870600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
38	chr10:45870200-45870600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr10:45870200-45870600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr10:45870200-45870600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
41	chr10:45870200-45870600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
42	chr10:45870200-45870600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
43	chr10:45870200-45870800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr10:45870200-45870800	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
45	chr10:45870200-45870800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr10:45870200-45871000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
47	chr10:45870200-45871000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr10:45870200-45871600	Flanking Active TSS	Primary B cells from peripheral blood	blood
49	chr10:45870200-45871600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr10:45870200-45872400	Flanking Active TSS	GM12878-XiMat	blood

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