Variant report

Variant	rs11708849
Chromosome Location	chr3:47818858-47818859
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	chr3:47765075..47767679-chr3:47818543..47820695,2	K562	blood:

Extended variants
information (count: 119 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:113)

rs_ID	r²[population]
rs11130145	0.86[AMR][1000 genomes]
rs11130146	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs11130147	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11130148	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11130150	0.87[EUR][1000 genomes]
rs11710199	0.84[EUR][1000 genomes]
rs11712464	0.89[EUR][1000 genomes]
rs11714942	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11716582	0.80[AMR][1000 genomes]
rs11927129	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12492915	0.82[AMR][1000 genomes]
rs12495204	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12497921	0.85[AMR][1000 genomes]
rs12498027	0.85[AMR][1000 genomes]
rs12633604	0.86[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12635438	0.83[EUR][1000 genomes]
rs13061412	0.84[AMR][1000 genomes]
rs13063042	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13064183	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13070035	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13077230	0.87[EUR][1000 genomes]
rs13079407	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13081356	0.86[AMR][1000 genomes]
rs13086149	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13091913	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13094264	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13098128	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1403578	0.80[AMR][1000 genomes]
rs1403579	0.80[AMR][1000 genomes]
rs1486915	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17079785	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17290490	0.84[EUR][1000 genomes]
rs2030596	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2047559	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2049301	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2101398	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2133601	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2140335	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2293226	0.80[AMR][1000 genomes]
rs2351248	0.87[ASN][1000 genomes]
rs2882611	0.80[AMR][1000 genomes]
rs319693	0.84[EUR][1000 genomes]
rs34249203	0.80[EUR][1000 genomes]
rs34351471	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34569417	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34777284	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34906469	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35148469	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs35582375	0.87[EUR][1000 genomes]
rs35664069	0.80[EUR][1000 genomes]
rs35698005	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3772399	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3888	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3915654	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4410463	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4858801	0.80[AMR][1000 genomes]
rs4858803	0.82[AMR][1000 genomes]
rs4858842	0.80[AMR][1000 genomes]
rs4858846	0.85[AMR][1000 genomes]
rs4858851	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4858853	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4858857	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4858860	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4858863	0.93[EUR][1000 genomes]
rs55823596	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs56376646	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs61181421	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61620099	0.80[AMR][1000 genomes]
rs62262129	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62263561	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62263575	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6442074	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs6442079	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6442081	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6442082	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6442083	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6442085	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6442086	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6768699	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6772301	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6773467	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6773732	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6776963	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6777632	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6782998	0.84[EUR][1000 genomes]
rs6785669	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6786001	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6792350	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6792497	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6792737	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6806860	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72906474	0.85[ASN][1000 genomes]
rs72906488	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73085151	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7429162	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7612219	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7613934	0.82[AMR][1000 genomes]
rs7618758	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7621236	0.82[AMR][1000 genomes]
rs7624474	0.82[AMR][1000 genomes]
rs7629850	0.93[EUR][1000 genomes]
rs7631950	0.80[AMR][1000 genomes]
rs7637372	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7637950	0.82[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7638103	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7645846	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7646982	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7649393	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs868255	0.80[AMR][1000 genomes]
rs870622	0.80[AMR][1000 genomes]
rs883661	0.80[AMR][1000 genomes]
rs9757517	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9850154	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003072	chr3:47673628-47869154	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv876758	chr3:47681881-47842234	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
3	nsv876759	chr3:47725315-47830741	Strong transcription Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	24 gene(s)	inside rSNPs	diseases
4	nsv834679	chr3:47749475-47924006	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
5	nsv590233	chr3:47798700-47829277	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
6	nsv965333	chr3:47815622-47845296	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11708849	ZNF589	cis	Nerve Tibial	GTEx
rs11708849	DHX30	Cis_1M	lymphoblastoid	RTeQTL
rs11708849	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs11708849	MRPS18AP1	cis	Nerve Tibial	GTEx
rs11708849	MAP4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47701600-47819800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr3:47727600-47819400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:47772800-47821000	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr3:47774200-47820600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:47777200-47819000	Weak transcription	Fetal Brain Male	brain
6	chr3:47777200-47819800	Weak transcription	Small Intestine	intestine
7	chr3:47777400-47819800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr3:47777400-47821000	Weak transcription	Brain Cingulate Gyrus	brain
9	chr3:47777400-47821000	Weak transcription	Brain Substantia Nigra	brain
10	chr3:47777400-47821800	Weak transcription	Right Ventricle	heart
11	chr3:47777600-47820600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr3:47777600-47820800	Weak transcription	NHLF	lung
13	chr3:47784800-47820800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr3:47787400-47820800	Weak transcription	Brain Angular Gyrus	brain
15	chr3:47794800-47819400	Weak transcription	Right Atrium	heart
16	chr3:47798800-47821000	Weak transcription	Brain Anterior Caudate	brain
17	chr3:47800000-47820800	Weak transcription	HSMMtube	muscle
18	chr3:47802800-47822000	Weak transcription	Aorta	Aorta
19	chr3:47804200-47819000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr3:47805200-47819000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:47805600-47820800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr3:47806200-47820800	Weak transcription	Colonic Mucosa	Colon
23	chr3:47806200-47821600	Weak transcription	Esophagus	oesophagus
24	chr3:47806600-47820400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr3:47808200-47820800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr3:47809800-47820800	Weak transcription	HMEC	breast
27	chr3:47811200-47821000	Weak transcription	Stomach Mucosa	stomach
28	chr3:47812000-47821000	Weak transcription	HSMM	muscle
29	chr3:47812200-47820600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr3:47813200-47819000	Weak transcription	Left Ventricle	heart
31	chr3:47813200-47821000	Weak transcription	Colon Smooth Muscle	Colon
32	chr3:47813800-47821000	Weak transcription	Brain Hippocampus Middle	brain
33	chr3:47814000-47819800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr3:47814000-47819800	Weak transcription	Gastric	stomach
35	chr3:47814000-47819800	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr3:47814000-47820200	Weak transcription	Brain Germinal Matrix	brain
37	chr3:47814000-47820200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr3:47814200-47819400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr3:47814200-47820200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr3:47814200-47820600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr3:47814200-47820800	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr3:47814200-47820800	Weak transcription	Fetal Kidney	kidney
43	chr3:47814400-47819000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr3:47814400-47819000	Weak transcription	Spleen	Spleen
45	chr3:47814400-47819400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr3:47814400-47819800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:47814400-47819800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr3:47814400-47819800	Weak transcription	Thymus	Thymus
49	chr3:47814400-47820200	Weak transcription	Adipose Nuclei	Adipose
50	chr3:47814400-47820200	Weak transcription	Fetal Intestine Large	intestine

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