Variant report

Variant	rs4591818
Chromosome Location	chr6:87957747-87957748
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	chr6:87951720..87954611-chr6:87956928..87959093,2	K562	blood:

Extended variants
information (count: 178 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:176)

rs_ID	r²[population]
rs1080595	0.86[ASN][1000 genomes]
rs1080596	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1201409	0.82[ASN][1000 genomes]
rs12176253	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12190280	0.82[ASN][1000 genomes]
rs12664578	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs173333	0.83[ASN][1000 genomes]
rs1753154	0.94[ASN][1000 genomes]
rs1813847	0.80[EUR][1000 genomes]
rs1813848	0.80[EUR][1000 genomes]
rs183599	0.82[ASN][1000 genomes]
rs1886751	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1886752	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1925688	0.80[EUR][1000 genomes]
rs1925689	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1925695	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1980790	0.86[ASN][1000 genomes]
rs1980791	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1980792	0.86[ASN][1000 genomes]
rs2025630	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2031518	0.86[ASN][1000 genomes]
rs2147917	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2147918	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2147919	0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2147920	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2147921	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2182181	0.88[ASN][1000 genomes]
rs2240459	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2240460	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs242267	0.82[ASN][1000 genomes]
rs242270	0.82[ASN][1000 genomes]
rs242278	0.83[ASN][1000 genomes]
rs242279	0.83[ASN][1000 genomes]
rs242280	0.82[ASN][1000 genomes]
rs242281	0.82[ASN][1000 genomes]
rs242283	0.92[ASN][1000 genomes]
rs2474349	0.94[ASN][1000 genomes]
rs2985039	0.86[ASN][1000 genomes]
rs35788380	0.85[EUR][1000 genomes]
rs369674	0.84[ASN][1000 genomes]
rs3734187	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs373646	0.82[ASN][1000 genomes]
rs376633	0.84[ASN][1000 genomes]
rs3812130	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3812132	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs381782	0.86[ASN][1000 genomes]
rs3846773	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3846774	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3846775	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3846776	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3857483	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3857484	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3857485	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3857488	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3903920	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3904088	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4099964	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4110984	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4110985	0.81[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs445434	0.86[ASN][1000 genomes]
rs446851	0.83[ASN][1000 genomes]
rs447077	0.83[ASN][1000 genomes]
rs448580	0.86[ASN][1000 genomes]
rs4489129	0.80[EUR][1000 genomes]
rs451089	0.86[ASN][1000 genomes]
rs451465	0.84[ASN][1000 genomes]
rs451829	0.86[ASN][1000 genomes]
rs4533962	0.81[EUR][1000 genomes]
rs4540237	0.81[EUR][1000 genomes]
rs4574603	0.87[EUR][1000 genomes]
rs4605853	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4706289	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4707346	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4707347	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4707348	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4707351	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4707352	0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4707356	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4707357	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4707358	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs586771	0.82[ASN][1000 genomes]
rs62439492	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6454589	0.88[EUR][1000 genomes]
rs6454590	0.82[ASN][1000 genomes]
rs6454591	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6454592	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6454593	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6454594	0.90[ASN][1000 genomes]
rs6454595	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6454596	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6454597	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6454598	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6454599	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6454600	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6899394	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6904310	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6907805	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6909021	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6909200	0.86[ASN][1000 genomes]
rs6910991	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6913721	0.88[ASN][1000 genomes]
rs6913932	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6914193	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6916994	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6917432	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6921007	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6921504	0.82[ASN][1000 genomes]
rs6921619	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6925648	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6926563	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6926831	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6926838	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6927748	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6932678	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6933046	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6934603	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6937874	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6940544	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7453986	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7739034	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7739726	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7742478	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7742710	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7748191	0.86[ASN][1000 genomes]
rs7748879	0.87[ASN][1000 genomes]
rs7752485	0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7752882	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7753030	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7755244	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7755883	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7757199	0.80[EUR][1000 genomes]
rs7757827	0.84[ASN][1000 genomes]
rs7758618	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7763365	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7766324	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7767449	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7768575	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7774080	0.88[EUR][1000 genomes]
rs7774603	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7776407	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs910563	0.82[ASN][1000 genomes]
rs9294367	0.80[EUR][1000 genomes]
rs9294372	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9294374	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9344690	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9344691	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9344693	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9344695	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9344696	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9344697	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9351114	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9351117	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9351124	0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9353455	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9353462	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9353463	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9353464	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9353465	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9353466	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9353468	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9353473	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9359734	0.87[EUR][1000 genomes]
rs9359740	0.81[ASN][1000 genomes]
rs9359743	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9362401	0.80[ASN][1000 genomes]
rs9362408	0.80[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9362411	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9362413	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9362415	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9362417	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9444479	0.80[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9450634	0.88[ASN][1000 genomes]
rs9450647	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9450650	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9450652	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs994170	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758067	chr6:87817883-87992957	Enhancers Bivalent Enhancer ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	esv2759453	chr6:87817883-87992957	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs4591818	SLC35A1	Cis_1M	lymphoblastoid	RTeQTL
rs4591818	C6orf163	Cis_1M	lymphoblastoid	RTeQTL
rs4591818	C6orf162	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:87884000-87964400	Weak transcription	NHEK	skin
2	chr6:87888200-87964200	Weak transcription	HSMMtube	muscle
3	chr6:87906400-87964400	Weak transcription	NHLF	lung
4	chr6:87923400-87969000	Weak transcription	Psoas Muscle	Psoas
5	chr6:87924400-87966000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:87934600-87964200	Weak transcription	Rectal Smooth Muscle	rectum
7	chr6:87934600-87964400	Weak transcription	Brain Angular Gyrus	brain
8	chr6:87934600-87967000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr6:87934800-87958600	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr6:87934800-87964200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr6:87935200-87963400	Weak transcription	Hela-S3	cervix
12	chr6:87935200-87963600	Weak transcription	NHDF-Ad	bronchial
13	chr6:87936400-87961600	Weak transcription	Right Atrium	heart
14	chr6:87936800-87964200	Weak transcription	Fetal Brain Male	brain
15	chr6:87946000-87964400	Weak transcription	Fetal Heart	heart
16	chr6:87948200-87961400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr6:87948800-87971200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:87949600-87961400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr6:87949600-87970200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:87949800-87958600	Strong transcription	Liver	Liver
21	chr6:87949800-87962000	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr6:87950200-87958800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr6:87950200-87960200	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr6:87950200-87960400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr6:87950200-87960400	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr6:87950200-87962600	Strong transcription	HUES48 Cell Line	embryonic stem cell
27	chr6:87950200-87967600	Strong transcription	Fetal Lung	lung
28	chr6:87950200-87968200	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr6:87950400-87959400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr6:87950400-87960400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:87950400-87970600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr6:87950400-87971400	Strong transcription	Dnd41	blood
33	chr6:87950600-87959600	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr6:87950600-87964200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:87950800-87964000	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr6:87950800-87966000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:87951600-87964200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr6:87952200-87960200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr6:87952200-87964600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:87952200-87967600	Strong transcription	Primary hematopoietic stem cells	blood
41	chr6:87952600-87961000	Strong transcription	Primary neutrophils fromperipheralblood	blood
42	chr6:87952800-87959000	Weak transcription	Fetal Brain Female	brain
43	chr6:87953000-87961400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr6:87953200-87960000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr6:87953400-87968200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
46	chr6:87953600-87959400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr6:87953800-87959200	Strong transcription	GM12878-XiMat	blood
48	chr6:87954200-87967600	Weak transcription	Stomach Mucosa	stomach
49	chr6:87954200-87970000	Strong transcription	Fetal Muscle Trunk	muscle
50	chr6:87954400-87964400	Weak transcription	HMEC	breast

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