Variant report

Variant	nsv825194
Chromosome Location	chr9:140407301-140408357
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: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	chr9:140354790..140356755-chr9:140406317..140408071,2	K562	blood:
2	chr9:140406468..140408073-chr9:140409419..140412188,2	K562	blood:
3	chr9:140406090..140408073-chr9:140408484..140412188,3	K562	blood:
4	chr9:140402660..140405211-chr9:140405983..140408009,2	MCF-7	breast:
5	chr9:140406477..140408426-chr9:140424774..140426363,2	K562	blood:
6	chr9:140352304..140355788-chr9:140405232..140410099,5	MCF-7	breast:
7	chr9:140320912..140322713-chr9:140405258..140407507,2	MCF-7	breast:
8	chr9:140406492..140409440-chr9:140417122..140420049,2	MCF-7	breast:
9	chr9:140195213..140197521-chr9:140405287..140408136,3	MCF-7	breast:
10	chr9:140401353..140403296-chr9:140405117..140407444,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198435	chromatin interactions
ENSG00000165802	chromatin interactions
ENSG00000130653	chromatin interactions

Extended variants
information (count: 34 )
Associated
traits (count: 20 )

Variant overlapped rSNPs/rCNVs (count:34 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114222794	chr9:140407354-140407355	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs537232322	chr9:140407386-140407387	Weak transcription ZNF genes & repeats Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
3	rs556848057	chr9:140407401-140407402	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs34062048	chr9:140407414-140407415	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs570330242	chr9:140407415-140407416	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs60185108	chr9:140407429-140407430	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs557238762	chr9:140407455-140407456	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs573758509	chr9:140407464-140407465	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs113760976	chr9:140407478-140407479	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs562751879	chr9:140407508-140407509	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs377560077	chr9:140407509-140407510	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs573591169	chr9:140407554-140407555	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs372911874	chr9:140407556-140407557	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs115859136	chr9:140407585-140407586	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs565225640	chr9:140407592-140407593	Weak transcription Strong transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
16	rs531152253	chr9:140407629-140407630	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs550761255	chr9:140407652-140407653	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs561104371	chr9:140407672-140407673	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs13440140	chr9:140407709-140407710	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs182124089	chr9:140407748-140407749	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs13440001	chr9:140407751-140407752	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs13439931	chr9:140407755-140407756	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs551435004	chr9:140407859-140407860	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs186227978	chr9:140407888-140407889	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs534675372	chr9:140407899-140407900	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs527261403	chr9:140407928-140407929	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs367774091	chr9:140407930-140407931	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs11422303	chr9:140407942-140407943	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs371950596	chr9:140408038-140408039	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs573746185	chr9:140408091-140408092	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs17065442	chr9:140408189-140408190	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs553412862	chr9:140408255-140408256	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs573294318	chr9:140408319-140408320	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs145758138	chr9:140408320-140408321	Weak transcription Flanking Active TSS Enhancers Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:20)

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
Breast cancer	21509527	CNVD

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:140376800-140444000	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr9:140377000-140437000	Weak transcription	Left Ventricle	heart
3	chr9:140377200-140420200	Weak transcription	Rectal Smooth Muscle	rectum
4	chr9:140388400-140425200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr9:140392000-140425800	Weak transcription	Primary T cells from cord blood	blood
6	chr9:140393000-140417800	Weak transcription	Fetal Brain Female	brain
7	chr9:140393000-140429400	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr9:140394000-140419800	Weak transcription	Primary B cells from peripheral blood	blood
9	chr9:140394000-140429200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr9:140394800-140415600	Weak transcription	Brain Angular Gyrus	brain
11	chr9:140395000-140414000	Weak transcription	Brain Substantia Nigra	brain
12	chr9:140395200-140409400	Weak transcription	Spleen	Spleen
13	chr9:140396200-140409200	Weak transcription	Right Ventricle	heart
14	chr9:140396400-140429200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr9:140401400-140413600	Weak transcription	Gastric	stomach
16	chr9:140402000-140409400	Weak transcription	Fetal Stomach	stomach
17	chr9:140404000-140408200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr9:140404000-140413400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr9:140404200-140413800	Weak transcription	Primary B cells from cord blood	blood
20	chr9:140404200-140414000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr9:140404200-140414000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr9:140404200-140415000	Weak transcription	HSMMtube	muscle
23	chr9:140404200-140415600	Weak transcription	Brain Hippocampus Middle	brain
24	chr9:140404200-140420000	Weak transcription	Brain Anterior Caudate	brain
25	chr9:140404200-140429200	Weak transcription	Aorta	Aorta
26	chr9:140404400-140415600	Weak transcription	Lung	lung
27	chr9:140405600-140408200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr9:140406000-140413800	Weak transcription	Fetal Intestine Small	intestine
29	chr9:140406200-140407600	Strong transcription	Skeletal Muscle Male	skeletal muscle
30	chr9:140406400-140407600	Strong transcription	Ovary	ovary
31	chr9:140406600-140407400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr9:140406800-140420000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr9:140407000-140407600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr9:140407000-140408000	Weak transcription	Hela-S3	cervix
35	chr9:140407000-140408600	Enhancers	GM12878-XiMat	blood
36	chr9:140407000-140409200	Weak transcription	Stomach Mucosa	stomach
37	chr9:140407000-140413600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr9:140407000-140414000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr9:140407200-140408200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr9:140407200-140409400	Weak transcription	Adipose Nuclei	Adipose
41	chr9:140407200-140409400	Weak transcription	Pancreas	Pancrea
42	chr9:140407200-140413400	Weak transcription	K562	blood
43	chr9:140407200-140414000	Weak transcription	Liver	Liver
44	chr9:140407200-140414000	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr9:140407400-140409400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr9:140407600-140409200	Weak transcription	Ovary	ovary
47	chr9:140407600-140409400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr9:140408000-140408200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
49	chr9:140408000-140408200	Enhancers	HMEC	breast
50	chr9:140408000-140408600	Flanking Active TSS	Hela-S3	cervix

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