Variant report

Variant	rs2811782
Chromosome Location	chr9:139680592-139680593
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:139679190..139682113-chr9:139741190..139743135,2	MCF-7	breast:
2	chr9:139679045..139680711-chr9:139735459..139738050,2	MCF-7	breast:
3	chr9:139663003..139666035-chr9:139678378..139681076,3	MCF-7	breast:
4	chr9:139620633..139623014-chr9:139678413..139683137,4	MCF-7	breast:
5	chr9:139652661..139658683-chr9:139677710..139682329,5	K562	blood:
6	chr9:139680143..139683670-chr9:139733731..139736557,4	K562	blood:
7	chr9:139679609..139682162-chr9:139682181..139685011,2	K562	blood:
8	chr9:139678562..139681491-chr9:139839917..139841672,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000233016	Chromatin interaction
ENSG00000176919	Chromatin interaction
ENSG00000204001	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10781515	0.85[ASN][1000 genomes]
rs10781516	0.85[ASN][1000 genomes]
rs11145876	0.81[ASN][1000 genomes]
rs11789783	0.92[ASN][1000 genomes]
rs12001067	0.85[ASN][1000 genomes]
rs1832147	0.85[ASN][1000 genomes]
rs2297722	0.82[ASN][1000 genomes]
rs2297723	0.82[ASN][1000 genomes]
rs2484657	0.85[ASN][1000 genomes]
rs2492307	0.98[ASN][1000 genomes]
rs2498193	0.85[ASN][1000 genomes]
rs2498195	0.97[ASN][1000 genomes]
rs2784034	0.86[AMR][1000 genomes]
rs2784040	0.86[ASN][1000 genomes]
rs2784041	0.86[ASN][1000 genomes]
rs2784044	0.81[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2784045	0.97[ASN][1000 genomes]
rs2784046	0.97[ASN][1000 genomes]
rs2784047	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2784048	0.97[ASN][1000 genomes]
rs2784049	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs2784050	0.98[ASN][1000 genomes]
rs2784051	0.98[ASN][1000 genomes]
rs2784052	0.89[ASN][1000 genomes]
rs2784054	0.98[ASN][1000 genomes]
rs2784055	0.98[ASN][1000 genomes]
rs2784056	0.98[ASN][1000 genomes]
rs2784057	0.98[ASN][1000 genomes]
rs2784059	0.98[ASN][1000 genomes]
rs2784060	0.98[ASN][1000 genomes]
rs2784062	0.85[ASN][1000 genomes]
rs2784063	0.85[ASN][1000 genomes]
rs2784064	0.85[ASN][1000 genomes]
rs2784065	0.85[ASN][1000 genomes]
rs2811767	0.85[ASN][1000 genomes]
rs2811768	0.85[ASN][1000 genomes]
rs2811770	0.85[ASN][1000 genomes]
rs2811771	0.85[ASN][1000 genomes]
rs2811772	0.85[ASN][1000 genomes]
rs2811777	0.98[ASN][1000 genomes]
rs2811778	0.97[ASN][1000 genomes]
rs2811779	0.98[ASN][1000 genomes]
rs2811781	0.98[ASN][1000 genomes]
rs2811783	0.98[ASN][1000 genomes]
rs2811784	0.98[ASN][1000 genomes]
rs2811785	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2811786	0.97[ASN][1000 genomes]
rs2811788	0.89[ASN][1000 genomes]
rs34001297	0.85[ASN][1000 genomes]
rs3861026	0.85[ASN][1000 genomes]
rs4256670	0.85[ASN][1000 genomes]
rs4880140	0.85[ASN][1000 genomes]
rs4880142	0.85[ASN][1000 genomes]
rs4880143	0.85[ASN][1000 genomes]
rs7040135	0.85[ASN][1000 genomes]
rs7852010	1.00[ASN][1000 genomes]
rs9411228	0.85[ASN][1000 genomes]
rs9411234	0.92[ASN][1000 genomes]
rs9411273	0.85[ASN][1000 genomes]
rs9411286	0.92[ASN][1000 genomes]
rs9411287	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:39 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1849811	chr9:138939662-139755001	Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	323 gene(s)	inside rSNPs	diseases
2	esv1822553	chr9:138967205-139755539	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	323 gene(s)	inside rSNPs	diseases
3	esv1851120	chr9:139101947-139711758	Bivalent Enhancer Weak transcription Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	275 gene(s)	inside rSNPs	diseases
4	nsv430118	chr9:139101947-139795504	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	299 gene(s)	inside rSNPs	diseases
5	nsv540342	chr9:139218422-139973312	Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	317 gene(s)	inside rSNPs	diseases
6	esv2758204	chr9:139252829-139826485	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	270 gene(s)	inside rSNPs	diseases
7	esv2759720	chr9:139252829-139826485	Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	270 gene(s)	inside rSNPs	diseases
8	nsv469918	chr9:139254317-140068342	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	341 gene(s)	inside rSNPs	diseases
9	esv1799492	chr9:139341612-139711758	Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	216 gene(s)	inside rSNPs	diseases
10	nsv540346	chr9:139360142-140164011	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	471 gene(s)	inside rSNPs	diseases
11	nsv894386	chr9:139376426-139693992	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	208 gene(s)	inside rSNPs	diseases
12	nsv1039149	chr9:139376829-139991102	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	303 gene(s)	inside rSNPs	diseases
13	esv1829857	chr9:139385438-139760041	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
14	esv1819204	chr9:139388365-139758238	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Genic enhancers Bivalent Enhancer 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	212 gene(s)	inside rSNPs	diseases
15	esv1803979	chr9:139395473-139979276	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	267 gene(s)	inside rSNPs	diseases
16	esv1831778	chr9:139395473-139979276	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	267 gene(s)	inside rSNPs	diseases
17	esv1821575	chr9:139395473-140068342	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	293 gene(s)	inside rSNPs	diseases
18	esv2422220	chr9:139478587-140244550	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	454 gene(s)	inside rSNPs	diseases
19	nsv894409	chr9:139483954-139860264	Transcr. at gene 5' and 3' Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	209 gene(s)	inside rSNPs	diseases
20	nsv894422	chr9:139487092-139776400	Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
21	nsv894432	chr9:139522101-139869914	Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS 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	205 gene(s)	inside rSNPs	diseases
22	nsv894440	chr9:139544437-139841512	Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh 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	194 gene(s)	inside rSNPs	diseases
23	nsv894441	chr9:139544437-139860264	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
24	nsv894442	chr9:139544437-140462099	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
25	nsv540348	chr9:139550414-139687876	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
26	nsv894450	chr9:139598108-139776400	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	130 gene(s)	inside rSNPs	diseases
27	nsv894451	chr9:139598108-139995065	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	200 gene(s)	inside rSNPs	diseases
28	nsv894452	chr9:139598108-140523429	Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
29	nsv894454	chr9:139607966-139904037	Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	172 gene(s)	inside rSNPs	diseases
30	nsv894455	chr9:139607966-140411547	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	417 gene(s)	inside rSNPs	diseases
31	nsv1051605	chr9:139620105-139728697	Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
32	nsv540350	chr9:139620105-139728697	Bivalent Enhancer Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
33	nsv818738	chr9:139634495-139904037	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	126 gene(s)	inside rSNPs	diseases
34	nsv466681	chr9:139647074-139693992	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	46 gene(s)	inside rSNPs	diseases
35	nsv615982	chr9:139647074-139693992	Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers 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	46 gene(s)	inside rSNPs	diseases
36	nsv894457	chr9:139650448-139776400	Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	79 gene(s)	inside rSNPs	diseases
37	nsv540351	chr9:139664948-139703627	Strong transcription Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
38	nsv8581	chr9:139666632-139685190	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
39	nsv523639	chr9:139669111-139690144	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:139668200-139682400	Weak transcription	Right Atrium	heart
2	chr9:139673400-139682000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr9:139674800-139682000	Weak transcription	A549	lung
4	chr9:139675400-139682000	Weak transcription	Colonic Mucosa	Colon
5	chr9:139678400-139685000	Enhancers	Fetal Intestine Small	intestine
6	chr9:139678600-139683000	Enhancers	Fetal Intestine Large	intestine
7	chr9:139678800-139681800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr9:139678800-139682200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr9:139679000-139680800	Enhancers	Duodenum Mucosa	Duodenum
10	chr9:139679200-139680600	Weak transcription	Brain Anterior Caudate	brain
11	chr9:139679200-139681800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr9:139679200-139684600	Weak transcription	Fetal Lung	lung
13	chr9:139679400-139682000	Weak transcription	Hela-S3	cervix
14	chr9:139679400-139682400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr9:139679800-139681400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:139679800-139682000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:139679800-139682000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr9:139679800-139682200	Weak transcription	GM12878-XiMat	blood
19	chr9:139680000-139682200	Enhancers	Liver	Liver
20	chr9:139680000-139684600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr9:139680200-139682200	Enhancers	Brain Substantia Nigra	brain
22	chr9:139680200-139682400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr9:139680200-139682600	Enhancers	Brain Hippocampus Middle	brain
24	chr9:139680200-139682600	Enhancers	Rectal Mucosa Donor 31	rectum
25	chr9:139680400-139682000	Enhancers	Brain Cingulate Gyrus	brain
26	chr9:139680400-139682200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr9:139680400-139682200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr9:139680400-139682200	Enhancers	Brain Inferior Temporal Lobe	brain
29	chr9:139680400-139682200	Enhancers	HepG2	liver
30	chr9:139680400-139682200	Enhancers	K562	blood

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