Variant report

Variant	esv3412592
Chromosome Location	chr9:140776131-140786729
allele	n/a
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:2)
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	chr9:140777999..140780667-chr9:140783373..140786900,7	MCF-7	breast:
2	chr9:140778196..140781664-chr9:140782755..140784568,3	K562	blood:
3	chr14:100197709..100198229-chr9:140777193..140778054,2	MCF-7	breast:
4	chr9:140778196..140781664-chr9:140782755..140784568,3	K562	blood:
5	chr9:140770577..140775397-chr9:140776407..140782162,11	K562	blood:
6	chr9:140777999..140780667-chr9:140783373..140786900,7	MCF-7	breast:
7	chr9:140772539..140775418-chr9:140775684..140778164,5	MCF-7	breast:
8	chr9:140770577..140775862-chr9:140777147..140782162,8	K562	blood:
9	chr9:140775069..140778564-chr9:140787877..140791721,3	MCF-7	breast:
10	chr9:140771023..140775053-chr9:140775846..140778577,6	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AL772363.1-1	chr9:140784498-140787022	ENSG00000203987.2
2	lnc-AL772363.1-1	chr9:140777289-140777454	ENSG00000203987.2

No data

Variant related genes	Relation type
ENSG00000148408	chromatin interactions

Extended variants
information (count: 599 )
Associated
traits (count: 19 )

Variant overlapped rSNPs/rCNVs (count:599 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553008167	chr9:140776142-140776143	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs572907853	chr9:140776145-140776146	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs538626728	chr9:140776147-140776148	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs111967628	chr9:140776167-140776168	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs575612521	chr9:140776225-140776226	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs544454050	chr9:140776226-140776227	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568848518	chr9:140776300-140776301	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs573733471	chr9:140776401-140776402	Strong transcription Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs560942015	chr9:140776402-140776403	Strong transcription Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs532258525	chr9:140776403-140776404	Strong transcription Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs540402186	chr9:140776407-140776408	Strong transcription Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs560198989	chr9:140776428-140776429	Strong transcription Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs532413421	chr9:140776466-140776467	Strong transcription Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs552151414	chr9:140776474-140776475	Strong transcription Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs145513242	chr9:140776506-140776507	Strong transcription Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs562498956	chr9:140776528-140776529	Strong transcription Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs552271015	chr9:140776569-140776570	Strong transcription Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs531923867	chr9:140776593-140776594	Strong transcription Weak transcription Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs542468594	chr9:140776611-140776612	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs143955329	chr9:140776711-140776712	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs78279481	chr9:140776719-140776720	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs372265506	chr9:140776734-140776735	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs371813205	chr9:140776756-140776757	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs537231816	chr9:140776795-140776796	Strong transcription Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs374886915	chr9:140776817-140776818	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs116491534	chr9:140776825-140776826	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs193068657	chr9:140776845-140776846	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs538689475	chr9:140776846-140776847	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs372769384	chr9:140776856-140776857	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs376211717	chr9:140776864-140776865	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs368869118	chr9:140776870-140776871	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs150858312	chr9:140776874-140776875	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs149208632	chr9:140776898-140776899	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs568835487	chr9:140776922-140776923	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs537773271	chr9:140776977-140776978	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs55936762	chr9:140776978-140776979	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs574582036	chr9:140776980-140776981	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs185397055	chr9:140776993-140776994	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs553897730	chr9:140776995-140776996	ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs576929709	chr9:140777045-140777046	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs142414615	chr9:140777087-140777088	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs4072563	chr9:140777105-140777106	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs531705877	chr9:140777133-140777134	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs542190334	chr9:140777143-140777144	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs201375153	chr9:140777153-140777154	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs151306816	chr9:140777154-140777155	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs374794889	chr9:140777155-140777156	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs201191430	chr9:140777157-140777158	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs41289999	chr9:140777162-140777163	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs548012349	chr9:140777166-140777167	ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:19)

Disease	PMID	Source
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cardiac fibroma	18329553	CNVD
Lung cancer	19147751	CNVD
Cervical cancer	17311676	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastric cancer	17908304	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Salivary gland adenoid cystic carcinoma	17545515	CNVD
Chordoma	18071362	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Sudden cardiac death	19188705	CNVD
Myoepithelioma	18604193	CNVD
Tuberous sclerosis	19566914	CNVD
Multiple myeloma	16616336	CNVD
Acute lymphoblastic leukemia	19100363	CNVD
Mantle cell lymphoma	19029149	CNVD

Chromatin state (count:153 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140773200-140795400	Weak transcription	Right Atrium	heart
2	chr9:140773800-140777000	Weak transcription	HUES64 Cell Line	embryonic stem cell
3	chr9:140773800-140777000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr9:140774000-140776400	Enhancers	Fetal Brain Male	brain
5	chr9:140774000-140777200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr9:140774800-140776200	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr9:140774800-140777000	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr9:140775000-140776400	Genic enhancers	Fetal Brain Female	brain
9	chr9:140775200-140776800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
10	chr9:140775400-140776200	Weak transcription	Brain Cingulate Gyrus	brain
11	chr9:140775400-140776600	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr9:140775800-140777000	Strong transcription	Brain Germinal Matrix	brain
13	chr9:140776000-140776200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr9:140776000-140777000	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr9:140776000-140777200	Weak transcription	Spleen	Spleen
16	chr9:140776200-140776600	Active TSS	Brain Cingulate Gyrus	brain
17	chr9:140776200-140777200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr9:140776400-140777200	Strong transcription	Fetal Brain Female	brain
19	chr9:140776600-140776800	Enhancers	Brain Cingulate Gyrus	brain
20	chr9:140776600-140777000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr9:140776800-140777000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr9:140776800-140777200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
23	chr9:140776800-140778800	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
24	chr9:140777000-140777200	Genic enhancers	Brain Germinal Matrix	brain
25	chr9:140777000-140777400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
26	chr9:140777000-140777600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
27	chr9:140777000-140777600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
28	chr9:140777000-140777600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr9:140777000-140778400	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
30	chr9:140777000-140779800	Bivalent Enhancer	Fetal Brain Male	brain
31	chr9:140777200-140777400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
32	chr9:140777200-140777400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
33	chr9:140777200-140777400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
34	chr9:140777200-140777400	Bivalent Enhancer	Placenta	Placenta
35	chr9:140777200-140777600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
36	chr9:140777200-140777600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:140777200-140777600	Bivalent Enhancer	Brain Angular Gyrus	brain
38	chr9:140777200-140777600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr9:140777200-140777600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
40	chr9:140777200-140778400	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
41	chr9:140777200-140778600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr9:140777200-140778600	Bivalent Enhancer	Brain Germinal Matrix	brain
43	chr9:140777200-140780200	Bivalent Enhancer	Fetal Brain Female	brain
44	chr9:140777200-140782000	ZNF genes & repeats	Spleen	Spleen
45	chr9:140777400-140777600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr9:140777400-140777600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
47	chr9:140777400-140777600	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr9:140777400-140777800	Bivalent Enhancer	Brain Cingulate Gyrus	brain
49	chr9:140777400-140778200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr9:140777600-140777800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell

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