Variant report

Variant	rs11707707
Chromosome Location	chr3:47729665-47729666
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47720048..47725540-chr3:47728543..47732832,5	K562	blood:

Extended variants
information (count: 91 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:87)

rs_ID	r²[population]
rs11130145	0.89[EUR][1000 genomes]
rs11130146	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11130147	0.89[EUR][1000 genomes]
rs11130148	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11712152	0.89[AFR][1000 genomes];0.99[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11712464	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11714942	0.87[EUR][1000 genomes]
rs11927129	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11929303	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs12492915	0.82[EUR][1000 genomes]
rs12495204	0.89[EUR][1000 genomes]
rs12497921	0.85[EUR][1000 genomes]
rs12498027	0.87[EUR][1000 genomes]
rs12633604	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12635438	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12636198	0.87[AMR][1000 genomes]
rs12636863	0.80[EUR][1000 genomes]
rs13061412	0.89[EUR][1000 genomes]
rs13063042	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs13064183	0.87[EUR][1000 genomes]
rs13069142	0.89[AMR][1000 genomes]
rs13070035	0.87[EUR][1000 genomes]
rs13081356	0.89[EUR][1000 genomes]
rs13085978	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs13086149	0.81[EUR][1000 genomes]
rs13091913	0.81[EUR][1000 genomes]
rs13094264	0.89[EUR][1000 genomes]
rs13098128	0.83[EUR][1000 genomes]
rs1486915	0.81[EUR][1000 genomes]
rs17079785	0.88[EUR][1000 genomes]
rs2030596	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2047559	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2049301	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2133601	0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2140335	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2882611	0.87[EUR][1000 genomes]
rs34351471	0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs34777284	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34906469	0.82[EUR][1000 genomes]
rs35148469	0.88[EUR][1000 genomes]
rs35167544	0.84[AMR][1000 genomes]
rs35664069	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4410463	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4858846	0.88[EUR][1000 genomes]
rs4858851	0.88[EUR][1000 genomes]
rs4858853	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4858863	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs55823596	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs56376646	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61675361	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs62262084	0.80[AFR][1000 genomes]
rs62262129	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62263561	0.85[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6442072	0.82[EUR][1000 genomes]
rs6442074	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6442079	0.89[EUR][1000 genomes]
rs6442081	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6442082	0.88[EUR][1000 genomes]
rs6442083	0.87[EUR][1000 genomes]
rs6442085	0.81[EUR][1000 genomes]
rs6442086	0.92[AMR][1000 genomes]
rs6768699	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6772301	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6773467	0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6773732	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6776963	0.94[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6777632	0.84[EUR][1000 genomes]
rs6785669	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6786001	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6792497	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6792737	0.85[EUR][1000 genomes]
rs6806860	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73085151	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7429162	0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7612219	0.88[EUR][1000 genomes]
rs7613934	0.82[EUR][1000 genomes]
rs7618758	0.89[EUR][1000 genomes]
rs7621236	0.82[EUR][1000 genomes]
rs7624474	0.82[EUR][1000 genomes]
rs7629850	0.81[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs7637372	0.84[EUR][1000 genomes]
rs7637950	0.83[EUR][1000 genomes]
rs7638103	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7645846	0.86[EUR][1000 genomes]
rs7649393	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs869508	0.87[AMR][1000 genomes]
rs883662	0.83[AFR][1000 genomes];0.94[AMR][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	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	nsv590232	chr3:47681881-47765547	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	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
4	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

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs11707707	DHX30	Cis_1M	lymphoblastoid	RTeQTL
rs11707707	MRPS18AP1	cis	Muscle Skeletal	GTEx
rs11707707	MAP4	Cis_1M	lymphoblastoid	RTeQTL
rs11707707	MRPS18AP1	cis	Nerve Tibial	GTEx
rs11707707	MRPS18AP1	cis	lung	GTEx
rs11707707	ZNF589	cis	Nerve Tibial	GTEx
rs11707707	MRPS18AP1	cis	Artery Tibial	GTEx
rs11707707	NME6	cis	Esophagus Muscularis	GTEx

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47655800-47765600	Strong transcription	HUES48 Cell Line	embryonic stem cell
2	chr3:47656600-47790800	Strong transcription	Fetal Thymus	thymus
3	chr3:47688200-47763400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr3:47694400-47745800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:47695200-47737200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
6	chr3:47698400-47731400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:47700200-47757000	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr3:47701200-47765000	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr3:47701200-47765600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr3:47701400-47739800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr3:47701600-47762200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr3:47701600-47800400	Strong transcription	Dnd41	blood
13	chr3:47701600-47819800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr3:47702200-47790400	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr3:47704000-47788600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr3:47705600-47742800	Weak transcription	Esophagus	oesophagus
17	chr3:47705800-47739200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr3:47707200-47737000	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr3:47707200-47739400	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr3:47707200-47780800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr3:47707200-47781400	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr3:47707600-47737400	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr3:47707600-47762600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:47708400-47737400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr3:47708800-47737000	Strong transcription	Duodenum Mucosa	Duodenum
26	chr3:47709400-47734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr3:47709800-47732400	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr3:47710600-47737200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr3:47710600-47756600	Strong transcription	Placenta	Placenta
30	chr3:47711000-47759400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr3:47711200-47739400	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr3:47711400-47732800	Weak transcription	Stomach Mucosa	stomach
33	chr3:47711400-47757200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:47711600-47740200	Strong transcription	NH-A	brain
35	chr3:47713200-47737200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr3:47713200-47737400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr3:47713600-47739600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
38	chr3:47714200-47736800	Strong transcription	Primary B cells from peripheral blood	blood
39	chr3:47714200-47737000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:47714600-47742200	Weak transcription	Psoas Muscle	Psoas
41	chr3:47714800-47737000	Strong transcription	Primary T cells from cord blood	blood
42	chr3:47715400-47737200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr3:47716000-47745800	Weak transcription	Fetal Heart	heart
44	chr3:47716000-47747400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr3:47717800-47736200	Strong transcription	Brain Germinal Matrix	brain
46	chr3:47719000-47752000	Weak transcription	Colonic Mucosa	Colon
47	chr3:47720000-47730200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
48	chr3:47720000-47734200	Weak transcription	Gastric	stomach
49	chr3:47720600-47730200	Weak transcription	Rectal Smooth Muscle	rectum
50	chr3:47720600-47742200	Weak transcription	Small Intestine	intestine

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