Variant report

Variant	rs4608686
Chromosome Location	chr3:52950554-52950555
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	chr3:52947000..52951038-chr3:52951338..52956335,5	K562	blood:

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs10510761	0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11130329	0.80[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11705797	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11707829	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11708337	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11708390	0.81[EUR][1000 genomes]
rs11710394	0.92[AFR][1000 genomes]
rs11710707	0.82[ASN][1000 genomes]
rs11712498	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11713290	0.96[AFR][1000 genomes]
rs11713324	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11713376	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11713479	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11714037	0.82[ASN][1000 genomes]
rs11714793	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11715231	0.93[ASN][1000 genomes]
rs11715498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11716506	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11716612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11717132	0.96[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11717715	0.82[ASN][1000 genomes]
rs11718538	0.96[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11718834	0.96[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11720191	0.92[AFR][1000 genomes]
rs11720233	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11720488	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13060282	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13062228	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13067373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13068194	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13069006	0.82[ASN][1000 genomes]
rs13072395	0.82[ASN][1000 genomes]
rs13074524	0.90[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13092352	0.96[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs13095705	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1986656	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2336540	0.96[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2336541	0.92[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2336661	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2336665	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34026403	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs34313969	0.96[AFR][1000 genomes]
rs34493168	0.81[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs34872575	0.82[ASN][1000 genomes]
rs35378159	0.82[ASN][1000 genomes]
rs35384050	0.92[AFR][1000 genomes]
rs35404467	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35569457	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35651539	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35720014	0.82[ASN][1000 genomes]
rs35737577	0.90[AFR][1000 genomes]
rs35849389	0.92[AFR][1000 genomes]
rs36126605	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3733034	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3733035	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56231111	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58515094	0.96[AFR][1000 genomes]
rs60887045	0.96[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs60942590	0.92[AFR][1000 genomes]
rs61172708	0.96[AFR][1000 genomes]
rs61473083	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6762260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6798472	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs71299621	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73839535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][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	esv2762328	chr3:52774884-53002150	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv3446915	chr3:52786850-53049217	Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4608686	TMEM110	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:52931800-52965400	Weak transcription	Spleen	Spleen
2	chr3:52932000-52953400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr3:52932000-52954000	Weak transcription	Small Intestine	intestine
4	chr3:52932000-52964000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr3:52932000-52970000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr3:52932000-52978000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:52932200-52951400	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr3:52932200-52952800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:52932200-52953600	Weak transcription	Right Ventricle	heart
10	chr3:52932200-52953800	Weak transcription	Ovary	ovary
11	chr3:52932200-52961400	Weak transcription	HSMMtube	muscle
12	chr3:52932200-52961800	Weak transcription	A549	lung
13	chr3:52932200-52963000	Weak transcription	Stomach Mucosa	stomach
14	chr3:52932200-52966400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr3:52932200-52967800	Weak transcription	HSMM	muscle
16	chr3:52932200-52968600	Weak transcription	Osteobl	bone
17	chr3:52932200-52968800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr3:52932200-52968800	Weak transcription	Fetal Brain Male	brain
19	chr3:52932400-52953000	Weak transcription	Brain Angular Gyrus	brain
20	chr3:52932400-52953400	Weak transcription	Fetal Kidney	kidney
21	chr3:52932400-52968600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr3:52932400-52968600	Weak transcription	NHDF-Ad	bronchial
23	chr3:52932400-52968800	Weak transcription	NHEK	skin
24	chr3:52935600-52968600	Strong transcription	Dnd41	blood
25	chr3:52937200-52959800	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr3:52938000-52959000	Strong transcription	Primary B cells from peripheral blood	blood
27	chr3:52939400-52953000	Weak transcription	Aorta	Aorta
28	chr3:52939600-52953400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr3:52939600-52961200	Weak transcription	Primary hematopoietic stem cells	blood
30	chr3:52940200-52953400	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr3:52941400-52952000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr3:52941800-52961600	Weak transcription	Colonic Mucosa	Colon
33	chr3:52941800-52980200	Weak transcription	Psoas Muscle	Psoas
34	chr3:52943000-52950600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:52943200-52958800	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr3:52943200-52958800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr3:52943600-52957000	Strong transcription	Placenta	Placenta
38	chr3:52943600-52962400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:52943600-52964000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr3:52943800-52956200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr3:52943800-52957600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr3:52944400-52956400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr3:52944600-52951400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:52945200-52960000	Weak transcription	Gastric	stomach
45	chr3:52946800-52952400	Strong transcription	Primary B cells from cord blood	blood
46	chr3:52947200-52952800	Weak transcription	Pancreas	Pancrea
47	chr3:52947200-52953000	Weak transcription	Lung	lung
48	chr3:52947200-52953600	Weak transcription	Esophagus	oesophagus
49	chr3:52947400-52951200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr3:52947400-52951400	Weak transcription	Hela-S3	cervix

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