Variant report

Variant	nsv819257
Chromosome Location	chr9:140779718-140785651
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:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:140778196..140781664-chr9:140782755..140784568,3	K562	blood:
2	chr9:140770577..140775862-chr9:140777147..140782162,8	K562	blood:
3	chr9:140778196..140781664-chr9:140782755..140784568,3	K562	blood:
4	chr9:140777999..140780667-chr9:140783373..140786900,7	MCF-7	breast:
5	chr9:140777999..140780667-chr9:140783373..140786900,7	MCF-7	breast:
6	chr9:140770577..140775397-chr9:140776407..140782162,11	K562	blood:

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

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

No data

Variant related genes	Relation type
ENSG00000148408	chromatin interactions

Extended variants
information (count: 344 )
Associated
traits (count: 19 )

Variant overlapped rSNPs/rCNVs (count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs138618211	chr9:140779722-140779723	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs551968160	chr9:140779737-140779738	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs565485356	chr9:140779743-140779744	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs531185319	chr9:140779759-140779760	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs550985490	chr9:140779773-140779774	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs562560856	chr9:140779775-140779776	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs190780009	chr9:140779788-140779789	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs12552636	chr9:140779809-140779810	Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs149299914	chr9:140779812-140779813	Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs536231631	chr9:140779839-140779840	Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs736955	chr9:140779859-140779860	Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs546612883	chr9:140779876-140779877	Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs182020068	chr9:140779910-140779911	Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs538756692	chr9:140779911-140779912	Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs557483901	chr9:140779914-140779915	Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs577758515	chr9:140779954-140779955	Bivalent Enhancer Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs537291357	chr9:140780016-140780017	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs111333558	chr9:140780020-140780021	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs573905550	chr9:140780021-140780022	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs542614476	chr9:140780096-140780097	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs550895883	chr9:140780183-140780184	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs368223497	chr9:140780196-140780197	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs11137292	chr9:140780205-140780206	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
24	rs559403572	chr9:140780212-140780213	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs572931645	chr9:140780217-140780218	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs545124599	chr9:140780245-140780246	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs565034262	chr9:140780246-140780247	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs148623095	chr9:140780252-140780253	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs551184731	chr9:140780295-140780296	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs561396639	chr9:140780318-140780319	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs530438622	chr9:140780367-140780368	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs377183570	chr9:140780373-140780374	Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs566531298	chr9:140780417-140780418	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs538694462	chr9:140780426-140780427	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs6559246	chr9:140780442-140780443	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs552243174	chr9:140780448-140780449	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs569367267	chr9:140780450-140780451	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs536822209	chr9:140780464-140780465	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs557139625	chr9:140780466-140780467	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs567411343	chr9:140780467-140780468	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs536557512	chr9:140780499-140780500	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs553353299	chr9:140780530-140780531	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs147712317	chr9:140780539-140780540	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs545058330	chr9:140780545-140780546	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs558349344	chr9:140780566-140780567	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs575321064	chr9:140780571-140780572	Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs544445617	chr9:140780611-140780612	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs200808323	chr9:140780612-140780613	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs561541046	chr9:140780646-140780647	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs369999902	chr9:140780650-140780651	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140773200-140795400	Weak transcription	Right Atrium	heart
2	chr9:140777000-140779800	Bivalent Enhancer	Fetal Brain Male	brain
3	chr9:140777200-140780200	Bivalent Enhancer	Fetal Brain Female	brain
4	chr9:140777200-140782000	ZNF genes & repeats	Spleen	Spleen
5	chr9:140777600-140787200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr9:140778600-140787000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr9:140778800-140780400	Bivalent Enhancer	Brain Germinal Matrix	brain
8	chr9:140779000-140780000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr9:140779000-140780200	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr9:140779200-140780800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr9:140779200-140785000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr9:140779400-140780200	Bivalent Enhancer	Esophagus	oesophagus
13	chr9:140779600-140779800	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr9:140779600-140779800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
15	chr9:140779600-140779800	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
16	chr9:140779600-140780200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr9:140779800-140780200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr9:140779800-140780200	Bivalent Enhancer	Brain Cingulate Gyrus	brain
19	chr9:140780000-140780200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
20	chr9:140780000-140780600	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr9:140780200-140780400	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr9:140780200-140780400	Flanking Bivalent TSS/Enh	Brain Dorsolateral Prefrontal Cortex	brain
23	chr9:140780200-140781000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr9:140780400-140780600	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr9:140780400-140780600	Enhancers	Brain Germinal Matrix	brain
26	chr9:140780400-140780600	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
27	chr9:140780400-140781000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr9:140780600-140781600	Bivalent/Poised TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr9:140780600-140782400	Genic enhancers	Brain Germinal Matrix	brain
30	chr9:140780600-140783400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr9:140780800-140782000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
32	chr9:140781000-140781400	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr9:140781000-140781600	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr9:140781000-140782000	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
35	chr9:140781400-140781600	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr9:140781400-140781600	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
37	chr9:140781400-140781800	Bivalent Enhancer	Brain Inferior Temporal Lobe	brain
38	chr9:140781600-140781800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr9:140781600-140782600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr9:140781600-140783800	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr9:140782000-140782600	Weak transcription	Spleen	Spleen
42	chr9:140782000-140785400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr9:140782400-140784000	Strong transcription	Brain Germinal Matrix	brain
44	chr9:140782600-140782800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr9:140782600-140782800	Enhancers	Spleen	Spleen
46	chr9:140782800-140783200	Bivalent Enhancer	Fetal Brain Female	brain
47	chr9:140782800-140783600	Weak transcription	Spleen	Spleen
48	chr9:140783200-140783600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr9:140783200-140784200	Enhancers	Fetal Thymus	thymus
50	chr9:140783200-140785600	ZNF genes & repeats	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links