Variant report

Variant	rs484983
Chromosome Location	chr11:65880463-65880464
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:65848212..65850914-chr11:65878151..65882028,6	MCF-7	breast:
2	chr11:65873309..65876275-chr11:65878383..65880487,3	K562	blood:
3	chr11:65874486..65876275-chr11:65878460..65880487,3	K562	blood:
4	chr11:65878909..65881654-chr11:66029706..66032681,2	K562	blood:
5	chr11:65879009..65884313-chr11:65890112..65896035,10	MCF-7	breast:
6	chr11:65874283..65877270-chr11:65878896..65881081,3	MCF-7	breast:
7	chr11:65879652..65882394-chr11:65882531..65887079,5	K562	blood:
8	chr11:65879258..65881165-chr11:65898106..65900778,2	K562	blood:
9	chr11:65836711..65839156-chr11:65879952..65887031,7	MCF-7	breast:
10	chr11:65870328..65872289-chr11:65878873..65881229,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000175115	Chromatin interaction
ENSG00000255038	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1151530	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1642958	0.81[AMR][1000 genomes]
rs2241303	0.81[AMR][1000 genomes]
rs482414	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs486311	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs493320	0.83[AMR][1000 genomes]
rs526852	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs527737	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs527962	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs537497	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs539046	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs564343	0.98[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs571374	0.84[AMR][1000 genomes]
rs576740	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs576836	0.81[AMR][1000 genomes]
rs577013	0.81[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	nsv948711	chr11:65692760-65949674	Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs484983	RP11-867O8.5	cis	Artery Aorta	GTEx

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65851600-65882800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:65868600-65893800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr11:65868800-65886200	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr11:65869000-65882800	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr11:65874800-65882800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
6	chr11:65875000-65882800	Weak transcription	Fetal Kidney	kidney
7	chr11:65875000-65887200	Weak transcription	Fetal Muscle Leg	muscle
8	chr11:65876800-65888400	Enhancers	Primary B cells from peripheral blood	blood
9	chr11:65878000-65883000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr11:65878200-65881600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:65878200-65882800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr11:65878200-65882800	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr11:65878200-65885600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr11:65878400-65880800	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr11:65878400-65881400	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr11:65879000-65880600	Enhancers	Placenta Amnion	Placenta Amnion
17	chr11:65879000-65880800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr11:65879000-65881400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr11:65879000-65881600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:65879000-65881600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr11:65879000-65881600	Enhancers	Fetal Brain Male	brain
22	chr11:65879000-65882800	Enhancers	Primary T cells fromperipheralblood	blood
23	chr11:65879200-65881000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr11:65879200-65881200	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr11:65879200-65883000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
26	chr11:65879200-65886600	Enhancers	Fetal Thymus	thymus
27	chr11:65879400-65880600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
28	chr11:65879400-65880600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:65879400-65880600	Enhancers	Liver	Liver
30	chr11:65879400-65880800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr11:65879400-65880800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr11:65879400-65881000	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr11:65879400-65881000	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr11:65879400-65881000	Enhancers	Gastric	stomach
35	chr11:65879400-65881000	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr11:65879400-65881000	Enhancers	K562	blood
37	chr11:65879400-65881200	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr11:65879400-65881200	Enhancers	Duodenum Mucosa	Duodenum
39	chr11:65879400-65881400	Enhancers	Adipose Nuclei	Adipose
40	chr11:65879400-65881600	Enhancers	Fetal Lung	lung
41	chr11:65879400-65881600	Enhancers	Rectal Smooth Muscle	rectum
42	chr11:65879400-65881600	Enhancers	HMEC	breast
43	chr11:65879400-65881600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr11:65879400-65881800	Enhancers	ES-I3 Cell Line	embryonic stem cell
45	chr11:65879400-65884000	Enhancers	HUES6 Cell Line	embryonic stem cell
46	chr11:65879400-65884400	Enhancers	Small Intestine	intestine
47	chr11:65879400-65889400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr11:65879600-65880600	Enhancers	Primary T cells from cord blood	blood
49	chr11:65879600-65880600	Enhancers	Fetal Brain Female	brain
50	chr11:65879600-65880600	Enhancers	Stomach Smooth Muscle	stomach

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