Variant report

Variant	rs11089117
Chromosome Location	chr21:45585289-45585290
allele	A/G
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	chr21:45585072..45590786-chr21:45590904..45593996,5	K562	blood:
2	chr21:45573655..45575237-chr21:45583026..45585364,2	MCF-7	breast:
3	chr21:45584708..45587339-chr21:45625931..45628312,2	MCF-7	breast:
4	chr21:45585070..45587795-chr21:45647222..45649775,2	K562	blood:
5	chr21:45553046..45554600-chr21:45582651..45585521,2	K562	blood:
6	chr21:45582972..45588290-chr21:45588610..45593083,12	MCF-7	breast:
7	chr21:45585105..45587021-chr21:45670091..45672231,2	MCF-7	breast:
8	chr21:45584635..45586624-chr21:45659236..45661002,2	MCF-7	breast:
9	chr21:45585260..45589365-chr21:45591122..45593213,3	K562	blood:
10	chr21:45579145..45582773-chr21:45583367..45588421,9	K562	blood:

No data

Variant related genes	Relation type
ENSG00000160221	Chromatin interaction
ENSG00000232010	Chromatin interaction
ENSG00000267913	Chromatin interaction
ENSG00000142182	Chromatin interaction
ENSG00000160223	Chromatin interaction
ENSG00000225331	Chromatin interaction
ENSG00000232698	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1005046	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11702859	0.85[EUR][1000 genomes]
rs2838503	0.83[AFR][1000 genomes]
rs2838508	0.88[EUR][1000 genomes]
rs2838509	0.86[EUR][1000 genomes]
rs2838511	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs28547944	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs4819383	0.83[AFR][1000 genomes]
rs915772	0.83[AMR][1000 genomes]
rs9985064	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv33817	chr21:45169412-46031810	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv913887	chr21:45344799-45670770	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv1064420	chr21:45460089-45814986	Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv544472	chr21:45460089-45814986	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv432155	chr21:45479055-45772388	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
6	nsv913890	chr21:45482950-45603746	Genic enhancers Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv459294	chr21:45499171-45595060	Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
8	nsv587722	chr21:45499171-45595060	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
9	nsv913891	chr21:45508561-45588518	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
10	nsv913892	chr21:45508561-45595060	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
11	nsv913893	chr21:45508561-45603746	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
12	nsv913894	chr21:45508561-45627976	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv913895	chr21:45528919-45595060	Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
14	nsv913896	chr21:45528919-45603746	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
15	nsv913897	chr21:45528919-45640139	Strong transcription Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
16	esv1825445	chr21:45535566-45754936	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
17	esv1817474	chr21:45540607-45773102	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
18	nsv533679	chr21:45551026-45768578	Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
19	nsv913898	chr21:45555079-45941566	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	74 gene(s)	inside rSNPs	diseases
20	nsv428042	chr21:45560437-45848190	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	61 gene(s)	inside rSNPs	diseases
21	nsv1065479	chr21:45571324-45617878	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
22	nsv913899	chr21:45577102-45611950	Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
23	nsv913900	chr21:45577102-45640139	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11089117	PWP2	Cis_1M	lymphoblastoid	RTeQTL
rs11089117	PWP2	cis	Muscle Skeletal	GTEx

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45575400-45586000	Weak transcription	Fetal Lung	lung
2	chr21:45575400-45592000	Weak transcription	Fetal Brain Female	brain
3	chr21:45579800-45590400	Weak transcription	Colon Smooth Muscle	Colon
4	chr21:45579800-45590400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr21:45580000-45591200	Weak transcription	Fetal Heart	heart
6	chr21:45580800-45585800	Weak transcription	HUVEC	blood vessel
7	chr21:45580800-45586600	Weak transcription	Right Ventricle	heart
8	chr21:45580800-45589200	Weak transcription	Colonic Mucosa	Colon
9	chr21:45581000-45586200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr21:45581000-45586400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr21:45581000-45590400	Weak transcription	Pancreas	Pancrea
12	chr21:45581000-45591600	Weak transcription	Right Atrium	heart
13	chr21:45581200-45585800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr21:45581200-45585800	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr21:45581200-45585800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr21:45581200-45586000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr21:45581200-45586600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
18	chr21:45581200-45589000	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr21:45581400-45585800	Weak transcription	Primary T helper cells fromperipheralblood	blood
20	chr21:45581400-45586000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr21:45581400-45586000	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr21:45581400-45586400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr21:45581400-45586800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr21:45581600-45586200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr21:45582000-45586400	Weak transcription	Adipose Nuclei	Adipose
26	chr21:45582000-45587400	Enhancers	Skeletal Muscle Female	skeletal muscle
27	chr21:45582400-45586800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr21:45583200-45587400	Enhancers	Stomach Mucosa	stomach
29	chr21:45583600-45586000	Weak transcription	HSMMtube	muscle
30	chr21:45584000-45586600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr21:45584200-45598800	Weak transcription	Ovary	ovary
32	chr21:45584400-45586800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr21:45584400-45587000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr21:45584400-45587800	Enhancers	Primary T cells fromperipheralblood	blood
35	chr21:45584600-45585400	Enhancers	Primary T cells from cord blood	blood
36	chr21:45584600-45586200	Weak transcription	Spleen	Spleen
37	chr21:45584600-45586800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr21:45584600-45587000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
39	chr21:45584600-45587200	Enhancers	Primary B cells from peripheral blood	blood
40	chr21:45584600-45587200	Enhancers	Brain Inferior Temporal Lobe	brain
41	chr21:45584600-45587400	Enhancers	Brain Substantia Nigra	brain
42	chr21:45584600-45588000	Enhancers	Primary hematopoietic stem cells	blood
43	chr21:45584600-45588000	Enhancers	Fetal Thymus	thymus
44	chr21:45584600-45590200	Weak transcription	Stomach Smooth Muscle	stomach
45	chr21:45584800-45586400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr21:45584800-45586400	Enhancers	Fetal Muscle Trunk	muscle
47	chr21:45584800-45586800	Enhancers	Esophagus	oesophagus
48	chr21:45584800-45586800	Enhancers	Gastric	stomach
49	chr21:45584800-45586800	Enhancers	HMEC	breast
50	chr21:45584800-45587200	Enhancers	Brain Anterior Caudate	brain

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