Variant report

Variant	rs4483592
Chromosome Location	chr11:65990439-65990440
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65990200..65991893-chr11:66024083..66025647,2	K562	blood:
2	chr11:65989904..65990810-chr11:66176021..66176586,2	K562	blood:
3	chr11:65990080..65990707-chr2:156543319..156543819,3	MCF-7	breast:
4	chr11:65990169..65990795-chr2:156543299..156543819,4	MCF-7	breast:
5	chr11:65990286..65990927-chr11:66103812..66104347,4	K562	blood:
6	chr11:65989902..65990804-chr11:66097338..66097940,2	K562	blood:
7	chr11:65983052..65986048-chr11:65987938..65993154,6	K562	blood:
8	chr11:65990366..65991081-chr11:66005082..66005617,2	MCF-7	breast:
9	chr11:65989826..65990904-chr11:66025062..66026518,16	K562	blood:
10	chr11:65989212..65991575-chr11:66026106..66027836,2	K562	blood:
11	chr11:65989885..65990788-chr11:66025454..66026296,5	MCF-7	breast:
12	chr11:65990260..65990801-chr11:66089476..66090019,2	K562	blood:
13	chr11:65989865..65990769-chr11:66049179..66050586,8	K562	blood:
14	chr11:65987811..65990997-chr11:66051307..66054931,3	MCF-7	breast:
15	chr11:65989902..65990824-chr11:66095405..66096056,4	MCF-7	breast:
16	chr11:65989443..65990830-chr11:66049701..66050885,7	MCF-7	breast:
17	chr11:65983052..65984959-chr11:65990030..65991676,2	K562	blood:
18	chr11:65985101..65987489-chr11:65988422..65991212,2	MCF-7	breast:
19	chr11:65990202..65990827-chr11:66056619..66057292,2	K562	blood:
20	chr11:65990075..65991917-chr11:66023311..66027606,4	K562	blood:
21	chr11:65989809..65991082-chr11:66025077..66026550,14	MCF-7	breast:
22	chr11:65989931..65990753-chr11:66197142..66197712,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000174851	Chromatin interaction
ENSG00000174871	Chromatin interaction
ENSG00000174791	Chromatin interaction
ENSG00000175115	Chromatin interaction
ENSG00000174996	Chromatin interaction

Extended variants
information (count: 118 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:114)

rs_ID	r²[population]
rs10750777	0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10750778	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10750780	0.89[ASN][1000 genomes]
rs10750781	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10791849	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10791850	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10791851	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10791852	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10791853	0.85[EUR][1000 genomes]
rs10791854	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10791855	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10791856	0.85[EUR][1000 genomes]
rs10791858	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10791859	0.88[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10791860	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10791861	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10791862	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10791863	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10896077	0.84[EUR][1000 genomes]
rs10896080	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10896081	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10896085	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10896087	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10896089	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10896090	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10896091	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10896092	0.85[EUR][1000 genomes]
rs10896093	0.86[AFR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10896094	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10896095	0.85[EUR][1000 genomes]
rs10896097	0.85[EUR][1000 genomes]
rs10896098	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10896099	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10896100	0.84[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10896105	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11227403	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11227409	0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11227410	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11227411	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11227413	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11227414	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11227415	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11227420	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11227426	0.86[EUR][1000 genomes]
rs11227433	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11227439	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11227447	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11227448	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11227452	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11607393	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12049852	0.84[EUR][1000 genomes]
rs12226649	0.84[EUR][1000 genomes]
rs12797158	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12797586	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12800670	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1717671	0.81[EUR][1000 genomes]
rs1862005	0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1987678	0.84[EUR][1000 genomes]
rs2017969	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2155030	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2155031	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2155198	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2155201	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2177053	0.82[AFR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2177054	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2236651	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2236652	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276036	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2282568	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2293121	0.86[AFR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2298466	1.00[ASN][1000 genomes]
rs2298468	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2889313	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3088328	0.83[EUR][1000 genomes]
rs3132851	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3814738	0.97[ASN][1000 genomes]
rs3825067	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3862386	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3953856	0.86[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4013917	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4393319	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4604890	0.82[EUR][1000 genomes]
rs471484	0.85[EUR][1000 genomes]
rs476551	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs485857	0.85[EUR][1000 genomes]
rs488320	0.82[EUR][1000 genomes]
rs512421	0.99[ASN][1000 genomes]
rs535395	0.84[EUR][1000 genomes]
rs560393	0.95[ASN][1000 genomes]
rs571434	0.82[EUR][1000 genomes]
rs580891	0.84[EUR][1000 genomes]
rs6591207	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6591208	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7115081	0.85[EUR][1000 genomes]
rs7120326	0.84[EUR][1000 genomes]
rs7124165	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs71270566	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7925123	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7926402	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7929909	0.88[AFR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7931477	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7931544	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7935336	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7937281	0.85[EUR][1000 genomes]
rs7941431	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7941469	0.84[EUR][1000 genomes]
rs7942894	0.87[EUR][1000 genomes]
rs7943911	0.86[AFR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7945723	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7946917	0.84[AFR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7951079	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs918299	0.81[AFR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9645684	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9736673	0.86[EUR][1000 genomes];0.90[ASN][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	esv3335923	chr11:65741698-66175759	Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	117 gene(s)	inside rSNPs	diseases
2	esv1819302	chr11:65787660-66007018	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	esv3407551	chr11:65794503-66158322	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	esv3392427	chr11:65981489-66273695	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	118 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4483592	RP11-755F10.1	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65961400-66011200	Weak transcription	Psoas Muscle	Psoas
2	chr11:65976600-66006000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr11:65976800-65996000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr11:65977200-65996000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr11:65977400-66010600	Strong transcription	Fetal Stomach	stomach
6	chr11:65977600-66018600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr11:65978000-65993000	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr11:65979800-66001200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:65980000-65994000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:65982200-65995800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr11:65984600-66024200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:65984800-65991000	Weak transcription	Fetal Brain Male	brain
13	chr11:65984800-66000400	Weak transcription	HMEC	breast
14	chr11:65985200-65998800	Weak transcription	NHDF-Ad	bronchial
15	chr11:65985600-65991000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr11:65985800-65991800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:65985800-66017800	Weak transcription	Fetal Heart	heart
18	chr11:65986600-65991800	Weak transcription	NH-A	brain
19	chr11:65987000-65992200	Weak transcription	HSMMtube	muscle
20	chr11:65987600-65992200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr11:65987800-65991800	Weak transcription	HSMM	muscle
22	chr11:65987800-66003400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr11:65988200-65991800	Weak transcription	Colon Smooth Muscle	Colon
24	chr11:65988200-66001200	Weak transcription	Small Intestine	intestine
25	chr11:65988400-65992400	Weak transcription	HUVEC	blood vessel
26	chr11:65988400-65995800	Weak transcription	HUES6 Cell Line	embryonic stem cell
27	chr11:65988600-65995200	Weak transcription	Brain Angular Gyrus	brain
28	chr11:65988600-65995200	Weak transcription	NHLF	lung
29	chr11:65988600-65997800	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr11:65988800-65991000	Weak transcription	NHEK	skin
31	chr11:65988800-65991200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr11:65988800-65991600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr11:65988800-65991600	Weak transcription	Ovary	ovary
34	chr11:65988800-65991800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:65988800-65991800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr11:65988800-65991800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr11:65988800-65991800	Weak transcription	Brain Anterior Caudate	brain
38	chr11:65988800-65991800	Weak transcription	Lung	lung
39	chr11:65988800-65992000	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr11:65988800-65992000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr11:65988800-65992200	Weak transcription	Aorta	Aorta
42	chr11:65988800-65992400	Weak transcription	Brain Hippocampus Middle	brain
43	chr11:65988800-65992400	Weak transcription	Fetal Lung	lung
44	chr11:65988800-65992400	Weak transcription	Left Ventricle	heart
45	chr11:65988800-65992400	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr11:65988800-65994600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr11:65988800-65995000	Weak transcription	Liver	Liver
48	chr11:65988800-65997800	Weak transcription	Pancreas	Pancrea
49	chr11:65988800-65998400	Weak transcription	Brain Substantia Nigra	brain
50	chr11:65988800-65998800	Weak transcription	Colonic Mucosa	Colon

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