Variant report

Variant	rs4518864
Chromosome Location	chr1:227468463-227468464
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:227468377..227470578-chr1:227471178..227474571,3	K562	blood:
2	chr1:227453182..227454826-chr1:227468013..227470218,2	MCF-7	breast:
3	chr1:227371203..227372814-chr1:227466811..227469363,2	K562	blood:

Extended variants
information (count: 131 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:124)

rs_ID	r²[population]
rs1015815	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1015816	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10916109	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10916114	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11799413	1.00[CEU][hapmap];0.91[YRI][hapmap]
rs11800062	0.81[EUR][1000 genomes]
rs11801994	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11803590	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11803761	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11805298	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11806511	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11806820	0.83[AMR][1000 genomes]
rs11806937	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs11807094	0.91[YRI][hapmap]
rs11808928	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11808962	0.92[LWK][hapmap];0.91[YRI][hapmap]
rs11809998	0.83[AMR][1000 genomes]
rs11810328	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11811358	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12402456	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12403391	0.83[AMR][1000 genomes]
rs12403650	0.94[EUR][1000 genomes]
rs12403833	0.90[CEU][hapmap]
rs12403986	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12404494	0.83[AMR][1000 genomes]
rs12405122	0.83[AMR][1000 genomes]
rs12405363	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12405878	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.83[AMR][1000 genomes]
rs12408437	0.83[AMR][1000 genomes]
rs12408913	0.94[EUR][1000 genomes]
rs12409816	0.81[AMR][1000 genomes]
rs12410327	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12410460	1.00[CEU][hapmap];0.96[YRI][hapmap]
rs12741049	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1464076	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1464077	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1513600	0.83[AMR][1000 genomes]
rs1513602	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1513603	0.92[EUR][1000 genomes]
rs1546557	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1606549	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16847035	1.00[CEU][hapmap];0.96[YRI][hapmap]
rs16847098	1.00[CEU][hapmap];0.95[YRI][hapmap];0.83[AMR][1000 genomes]
rs16847107	1.00[CEU][hapmap];0.95[YRI][hapmap]
rs16847492	1.00[CEU][hapmap];0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16847634	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs17613166	0.94[EUR][1000 genomes]
rs1877622	1.00[CEU][hapmap]
rs2090009	0.83[AMR][1000 genomes]
rs34125608	0.81[AFR][1000 genomes]
rs34263105	0.98[EUR][1000 genomes]
rs34400564	0.92[EUR][1000 genomes]
rs41270149	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4255349	0.96[EUR][1000 genomes]
rs4282782	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4300186	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4354510	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4434814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4437846	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4543764	0.91[EUR][1000 genomes]
rs55805110	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55882852	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55946024	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56389454	0.81[AFR][1000 genomes]
rs56834719	0.83[AMR][1000 genomes]
rs57276421	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs57513303	0.83[AMR][1000 genomes]
rs57758974	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58489467	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs58912997	0.83[AFR][1000 genomes]
rs59116340	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs59121440	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59859849	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60068245	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60079575	0.81[AMR][1000 genomes]
rs60235610	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs60291100	0.83[AMR][1000 genomes]
rs60641481	0.83[AMR][1000 genomes]
rs60742095	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs60958272	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61081394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61522132	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6659506	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6668367	0.95[EUR][1000 genomes]
rs6675383	0.83[AMR][1000 genomes]
rs6701743	0.83[AMR][1000 genomes]
rs73086746	0.81[EUR][1000 genomes]
rs73086752	0.81[EUR][1000 genomes]
rs73086775	0.81[EUR][1000 genomes]
rs73088658	0.92[EUR][1000 genomes]
rs73090612	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73094351	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs73094393	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs73094400	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73096317	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73096350	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73096353	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73096358	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73096374	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73098390	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73098398	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73099023	0.83[AMR][1000 genomes]
rs73099026	0.83[AMR][1000 genomes]
rs73100804	0.83[AMR][1000 genomes]
rs73100814	0.83[AMR][1000 genomes]
rs73100852	0.80[AMR][1000 genomes]
rs73102307	0.93[EUR][1000 genomes]
rs73102915	0.83[AMR][1000 genomes]
rs73102920	0.83[AMR][1000 genomes]
rs73102930	0.83[AMR][1000 genomes]
rs73102936	0.83[AMR][1000 genomes]
rs74140153	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74140155	0.83[AFR][1000 genomes]
rs7515739	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7519099	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7526283	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7534286	0.90[EUR][1000 genomes]
rs7535010	1.00[CEU][hapmap];1.00[GIH][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.90[EUR][1000 genomes]
rs7539037	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7539750	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7542505	1.00[CEU][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7544923	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7545775	0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7551556	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers 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	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
4	nsv873242	chr1:227371906-227579344	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv549271	chr1:227411003-227581017	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	esv3453491	chr1:227462942-227482283	Weak transcription ZNF genes & repeats Enhancers Strong transcription Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3453492	chr1:227462956-227482280	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4518864	ITPKB	cis	lymphoblastoid	seeQTL
rs4518864	RHOU	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227431600-227486200	Weak transcription	NHDF-Ad	bronchial
2	chr1:227433000-227469000	Weak transcription	Aorta	Aorta
3	chr1:227434600-227468800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr1:227443400-227474000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:227447200-227473600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr1:227449600-227473600	Weak transcription	NH-A	brain
7	chr1:227453000-227468600	Weak transcription	Lung	lung
8	chr1:227454200-227470400	Weak transcription	Ovary	ovary
9	chr1:227456600-227468800	Weak transcription	Left Ventricle	heart
10	chr1:227458600-227469400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr1:227458800-227472200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr1:227459400-227469400	Weak transcription	NHEK	skin
13	chr1:227462600-227473600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:227462600-227500200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:227463000-227473000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:227464400-227469000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:227464400-227472800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr1:227464400-227472800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:227464600-227468600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr1:227464600-227468600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:227464600-227469400	Weak transcription	Gastric	stomach
22	chr1:227465400-227472200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr1:227465600-227468600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:227466000-227468600	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr1:227466000-227468800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr1:227466200-227473200	Weak transcription	A549	lung
27	chr1:227466800-227468600	Weak transcription	K562	blood
28	chr1:227466800-227472400	Weak transcription	Fetal Intestine Large	intestine
29	chr1:227467000-227468600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr1:227467000-227472600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:227467200-227485800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:227467600-227468600	Weak transcription	Psoas Muscle	Psoas
33	chr1:227468000-227468800	Enhancers	Brain Anterior Caudate	brain
34	chr1:227468000-227469600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr1:227468400-227468600	Enhancers	Brain Hippocampus Middle	brain
36	chr1:227468400-227468800	Weak transcription	Fetal Muscle Trunk	muscle
37	chr1:227468400-227471000	Weak transcription	Pancreas	Pancrea

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