Variant report

Variant	nsv430097
Chromosome Location	chr9:117097755-117103268
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:117101066..117102053-chr9:117167040..117168559,4	MCF-7	breast:
2	chr9:117101580..117103166-chr9:117103266..117105308,2	MCF-7	breast:
3	chr9:117101434..117102012-chr9:117415923..117416790,3	K562	blood:
4	chr6:13696678..13697254-chr9:117099459..117100279,2	MCF-7	breast:
5	chr9:117068239..117069211-chr9:117101111..117102006,2	K562	blood:
6	chr9:117068040..117068779-chr9:117101087..117101920,2	MCF-7	breast:
7	chr9:117101497..117102031-chr9:117424117..117425066,2	K562	blood:
8	chr9:117101273..117102044-chr9:117168084..117168731,2	MCF-7	breast:
9	chr9:117101454..117102367-chr9:117485164..117485846,2	K562	blood:
10	chr9:117102977..117106643-chr9:117157703..117161882,4	K562	blood:
11	chr9:117099812..117101508-chr9:117113315..117115822,2	MCF-7	breast:
12	chr9:117101198..117101979-chr9:117111299..117111941,2	MCF-7	breast:
13	chr9:117102242..117104116-chr9:117108408..117110413,2	K562	blood:
14	chr9:117098997..117104975-chr9:117159099..117165483,7	MCF-7	breast:
15	chr9:117102977..117105904-chr9:117157191..117159203,2	K562	blood:
16	chr9:117101788..117104585-chr9:117150273..117152104,2	MCF-7	breast:
17	chr9:117102552..117105205-chr9:117109835..117112398,2	K562	blood:
18	chr9:117101534..117102049-chr9:117270024..117270719,2	MCF-7	breast:
19	chr9:117099107..117102809-chr9:117105264..117108943,3	K562	blood:
20	chr9:117101580..117103166-chr9:117103266..117105308,2	MCF-7	breast:
21	chr9:117101442..117101963-chr9:117167919..117168430,2	K562	blood:
22	chr9:117100634..117103007-chr9:117108442..117110444,2	MCF-7	breast:
23	chr9:117101149..117102026-chr9:117196751..117197558,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196739	chromatin interactions
ENSG00000106948	chromatin interactions
ENSG00000235119	chromatin interactions
ENSG00000230054	chromatin interactions

Extended variants
information (count: 222 )
Associated
traits (count: 62 )

Variant overlapped rSNPs/rCNVs (count:222 , 50 per page) page: 1 2 3 4 5

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10739407	chr9:117097755-117097756	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs187662981	chr9:117097757-117097758	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs151315807	chr9:117097777-117097778	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs372913634	chr9:117097778-117097779	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs57051248	chr9:117097782-117097783	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs10982169	chr9:117097824-117097825	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs149977388	chr9:117097885-117097886	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs189944413	chr9:117097889-117097890	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs181633667	chr9:117097924-117097925	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs539856338	chr9:117097976-117097977	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs7047674	chr9:117097982-117097983	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs551659888	chr9:117097983-117097984	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs553529852	chr9:117097986-117097987	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs576650527	chr9:117098015-117098016	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs112162621	chr9:117098026-117098027	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs574443475	chr9:117098052-117098053	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs10982170	chr9:117098055-117098056	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10610956	chr9:117098067-117098068	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs576303866	chr9:117098083-117098084	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs58357906	chr9:117098092-117098093	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs78327144	chr9:117098112-117098113	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs561157306	chr9:117098120-117098121	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs574852485	chr9:117098139-117098140	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs540390909	chr9:117098219-117098220	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs560631918	chr9:117098220-117098221	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs532765128	chr9:117098258-117098259	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs552860450	chr9:117098264-117098265	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs563174865	chr9:117098351-117098352	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs531955393	chr9:117098379-117098380	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs548154377	chr9:117098395-117098396	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs77907581	chr9:117098447-117098448	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs146496585	chr9:117098473-117098474	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs541816085	chr9:117098489-117098490	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs372706280	chr9:117098525-117098526	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs41278653	chr9:117098577-117098578	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs368509608	chr9:117098596-117098597	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs2636869	chr9:117098601-117098602	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
38	rs537287626	chr9:117098608-117098609	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs555814653	chr9:117098619-117098620	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs539245194	chr9:117098620-117098621	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs1044531	chr9:117098650-117098651	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
42	rs569915956	chr9:117098686-117098687	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs57315903	chr9:117098711-117098712	Strong transcription Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs73548975	chr9:117098826-117098827	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs574753008	chr9:117098832-117098833	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs540692353	chr9:117098836-117098837	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs535142964	chr9:117098861-117098862	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs554313816	chr9:117098898-117098899	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs41278655	chr9:117098900-117098901	Strong transcription Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
50	rs371107301	chr9:117098953-117098954	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:62)

Disease	PMID	Source
Acute lymphoblastic leukemia	22237106	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Medulloblastoma	21979893	CNVD
microdeletion syndrome	16199537	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Myelofibrosis	22110671	CNVD
lymphocytic leukemia	21291569	CNVD
Leukemia	17361228	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Glioblastoma	16823260	CNVD
Non-small cell lung cancer	21044232	CNVD
Brain cancer	20823417	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	21080181	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Renal cell carcinoma	19461508	CNVD
Neuroblastoma	18923191	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Heart disease	21282601	CNVD
Lung cancer	18438408	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute myeloid leukemia	20729466	CNVD
Oral cancer	21386901	CNVD
Prostate cancer	18632612	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Gastric cancer	17908304	CNVD
small cell lung cancer	20016488	CNVD
Cardiac fibroma	18329553	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	21364760	CNVD
Developmental delay	21147756	CNVD
Lung cancer	19147751	CNVD
Acute lymphoblastic leukemia	17443227	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	21509527	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Melanoma	17363583	CNVD
Retinoblastoma	19183342	CNVD

Chromatin state (count:230 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117061000-117110000	Weak transcription	A549	lung
2	chr9:117082200-117098600	Weak transcription	Brain Germinal Matrix	brain
3	chr9:117088000-117098800	Weak transcription	Fetal Brain Female	brain
4	chr9:117090400-117098400	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr9:117091000-117098400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr9:117091000-117098600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:117091000-117108200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:117091200-117098600	Weak transcription	Pancreas	Pancrea
9	chr9:117091400-117098200	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr9:117091400-117098400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr9:117091800-117099600	Weak transcription	Stomach Mucosa	stomach
12	chr9:117092800-117098400	Weak transcription	Colon Smooth Muscle	Colon
13	chr9:117093000-117098600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr9:117093200-117099600	Weak transcription	Brain Angular Gyrus	brain
15	chr9:117093800-117098600	Weak transcription	Esophagus	oesophagus
16	chr9:117093800-117099000	Weak transcription	Aorta	Aorta
17	chr9:117093800-117100200	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr9:117094000-117098600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr9:117094200-117098600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr9:117094200-117098800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr9:117094400-117098000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr9:117094400-117099600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr9:117094800-117102400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr9:117095200-117098400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr9:117095200-117103600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr9:117095400-117099200	Weak transcription	Small Intestine	intestine
27	chr9:117095600-117098400	Weak transcription	NHLF	lung
28	chr9:117095600-117106200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr9:117095800-117098600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr9:117095800-117099800	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr9:117095800-117099800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:117095800-117100400	Weak transcription	HSMMtube	muscle
33	chr9:117095800-117106000	Weak transcription	NH-A	brain
34	chr9:117096000-117098600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr9:117096000-117101200	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr9:117096000-117101400	Weak transcription	NHDF-Ad	bronchial
37	chr9:117096200-117099800	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr9:117096200-117112200	Weak transcription	Fetal Brain Male	brain
39	chr9:117096400-117098200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:117096600-117098400	Weak transcription	Right Ventricle	heart
41	chr9:117096600-117101600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr9:117096600-117109800	Strong transcription	Brain Hippocampus Middle	brain
43	chr9:117096600-117110200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr9:117096600-117110800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr9:117096600-117111000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr9:117096600-117111000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr9:117096800-117097800	ZNF genes & repeats	GM12878-XiMat	blood
48	chr9:117096800-117097800	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
49	chr9:117096800-117098000	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
50	chr9:117096800-117098600	Strong transcription	Lung	lung

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