Variant report

Variant	rs2084220
Chromosome Location	chr11:18656932-18656933
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:8)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:8 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:18656907-18656946	HepG2	liver:	n/a	n/a
2	MTA3	chr11:18654682-18656932	GM12878	blood:	n/a	n/a
3	CBX3	chr11:18655649-18656956	K562	blood:	n/a	n/a
4	MXI1	chr11:18654549-18657006	IMR90	lung:	n/a	n/a
5	JUN	chr11:18655661-18656969	K562	blood:	n/a	n/a
6	POLR2A	chr11:18655391-18656999	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr11:18654988-18657052	K562	blood:	n/a	n/a
8	MAZ	chr11:18655070-18657003	IMR90	lung:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:18415166..18418061-chr11:18653248..18658001,5	K562	blood:
2	chr11:18608840..18612225-chr11:18653403..18657833,8	MCF-7	breast:
3	chr11:18546581..18551368-chr11:18654825..18657467,6	K562	blood:
4	chr11:18546372..18549758-chr11:18653531..18658575,7	K562	blood:
5	chr11:18609259..18612621-chr11:18654534..18657923,6	MCF-7	breast:
6	chr11:18655737..18658361-chr11:18720798..18722992,3	MCF-7	breast:
7	chr11:18415280..18417349-chr11:18656133..18657834,2	MCF-7	breast:
8	chr11:18654961..18657619-chr8:56985621..56988332,2	K562	blood:

No data

Variant related genes	Relation type
SPTY2D1	TF binding region
ENSG00000238650	Chromatin interaction
ENSG00000151117	Chromatin interaction
ENSG00000151116	Chromatin interaction
ENSG00000134333	Chromatin interaction
ENSG00000253603	Chromatin interaction
ENSG00000074319	Chromatin interaction
ENSG00000008988	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10128711	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10500834	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10832950	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10832954	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10832956	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10832961	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10832962	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11024735	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11024739	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11024743	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2896537	0.88[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4237722	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4757676	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7943121	0.98[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv1042155	chr11:18435855-18697576	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
5	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18654200-18657000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:18654400-18657000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:18654400-18657400	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr11:18655000-18657000	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr11:18655400-18657000	Active TSS	Brain Anterior Caudate	brain
6	chr11:18656200-18657000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr11:18656400-18657000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr11:18656400-18657000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
9	chr11:18656400-18657000	Flanking Active TSS	Dnd41	blood
10	chr11:18656400-18657000	Flanking Active TSS	Hela-S3	cervix
11	chr11:18656400-18657000	Flanking Active TSS	HepG2	liver
12	chr11:18656400-18657000	Flanking Active TSS	K562	blood
13	chr11:18656600-18657000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr11:18656600-18657000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr11:18656600-18657000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr11:18656600-18657000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:18656600-18657000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
18	chr11:18656600-18657000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:18656600-18657000	Flanking Active TSS	Fetal Lung	lung
20	chr11:18656800-18657000	Enhancers	H1 Cell Line	embryonic stem cell
21	chr11:18656800-18657000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr11:18656800-18657000	Active TSS	iPS-18 Cell Line	embryonic stem cell
23	chr11:18656800-18657000	Enhancers	Primary B cells from cord blood	blood
24	chr11:18656800-18657000	Enhancers	Primary B cells from peripheral blood	blood
25	chr11:18656800-18657000	Enhancers	Primary T cells fromperipheralblood	blood
26	chr11:18656800-18657000	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr11:18656800-18657000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr11:18656800-18657000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr11:18656800-18657000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:18656800-18657000	Enhancers	Brain Cingulate Gyrus	brain
31	chr11:18656800-18657000	Enhancers	Brain Germinal Matrix	brain
32	chr11:18656800-18657000	Enhancers	Brain Hippocampus Middle	brain
33	chr11:18656800-18657000	Enhancers	Duodenum Mucosa	Duodenum
34	chr11:18656800-18657000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr11:18656800-18657000	Enhancers	Fetal Brain Male	brain
36	chr11:18656800-18657000	Enhancers	Fetal Heart	heart
37	chr11:18656800-18657000	Enhancers	Fetal Muscle Leg	muscle
38	chr11:18656800-18657000	Enhancers	Fetal Stomach	stomach
39	chr11:18656800-18657000	Enhancers	Skeletal Muscle Male	skeletal muscle
40	chr11:18656800-18657000	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr11:18656800-18657000	Enhancers	Stomach Smooth Muscle	stomach
42	chr11:18656800-18657000	Enhancers	A549	lung
43	chr11:18656800-18657000	Active TSS	GM12878-XiMat	blood
44	chr11:18656800-18657000	Enhancers	HSMM	muscle
45	chr11:18656800-18657000	Enhancers	HUVEC	blood vessel
46	chr11:18656800-18657000	Enhancers	NHEK	skin
47	chr11:18656800-18657800	Weak transcription	Rectal Mucosa Donor 29	rectum

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