Variant report

Variant	nsv969697
Chromosome Location	chr9:117359138-117360637
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:3)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:117358859..117360885-chr9:117367943..117371014,3	K562	blood:
2	chr9:117262712..117264286-chr9:117357016..117359862,2	MCF-7	breast:
3	chr9:117157841..117159621-chr9:117357449..117360397,2	K562	blood:
4	chr9:117359468..117362349-chr9:117363469..117367925,4	K562	blood:
5	chr9:117353689..117356575-chr9:117358293..117360775,2	K562	blood:
6	chr9:117346757..117362857-chr9:117372020..117377914,21	MCF-7	breast:
7	chr9:117359169..117361276-chr9:117368543..117370371,2	MCF-7	breast:
8	chr9:117357487..117362160-chr9:117372088..117375570,6	MCF-7	breast:

No data

(count:3 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location
1	ATP6V1G1	hsa-miR-215-5p	chr9:117360131-117360151
2	ATP6V1G1	hsa-miR-98-5p	chr9:117360209-117360230
3	ATP6V1G1	hsa-miR-192-5p	chr9:117360131-117360151

Variant related genes	Relation type
ENSG00000201749	chromatin interactions
ENSG00000157693	chromatin interactions

Extended variants
information (count: 71 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:71 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs568329990	chr9:117359150-117359151	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs554064293	chr9:117359157-117359158	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs577221916	chr9:117359263-117359264	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs201981017	chr9:117359266-117359267	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs546489372	chr9:117359271-117359272	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs566134375	chr9:117359274-117359275	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs13287489	chr9:117359279-117359280	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs75644600	chr9:117359285-117359286	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs71367785	chr9:117359288-117359289	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs13286616	chr9:117359297-117359298	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs13286297	chr9:117359301-117359302	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs377236060	chr9:117359309-117359310	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs535877457	chr9:117359310-117359311	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs539029449	chr9:117359311-117359312	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs559019022	chr9:117359314-117359315	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs13286629	chr9:117359315-117359316	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs553763229	chr9:117359318-117359319	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs535162915	chr9:117359331-117359332	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs575675243	chr9:117359333-117359334	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs544343212	chr9:117359395-117359396	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs561455077	chr9:117359398-117359399	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs554985342	chr9:117359428-117359429	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs183883726	chr9:117359432-117359433	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs540435444	chr9:117359460-117359461	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs10817643	chr9:117359516-117359517	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs371129298	chr9:117359521-117359522	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs532714541	chr9:117359566-117359567	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs539689678	chr9:117359598-117359599	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs56088635	chr9:117359683-117359684	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs10982322	chr9:117359715-117359716	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
31	rs575833589	chr9:117359746-117359747	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs531353559	chr9:117359760-117359761	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs188825943	chr9:117359786-117359787	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs368300242	chr9:117359799-117359800	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs533936503	chr9:117359823-117359824	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs372130727	chr9:117359826-117359827	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs570734987	chr9:117359862-117359863	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs539776456	chr9:117359863-117359864	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs556510080	chr9:117359891-117359892	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs145627791	chr9:117359899-117359900	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs11539658	chr9:117359913-117359914	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs112425042	chr9:117359915-117359916	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs141395465	chr9:117359921-117359922	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs61742531	chr9:117359932-117359933	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs538241798	chr9:117359935-117359936	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs139067587	chr9:117359960-117359961	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs199542651	chr9:117359969-117359970	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs201363023	chr9:117359970-117359971	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs11539656	chr9:117359977-117359978	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs574916000	chr9:117359978-117359979	Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

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
Breast cancer	21509527	CNVD
Cancer	20164919	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Cervical cancer	16585170	CNVD
Ependymoma	19289631	CNVD
Schizophrenia	20967226	CNVD

Chromatin state (count:163 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:117351400-117362000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:117351400-117363400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr9:117352000-117362400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr9:117353600-117361600	Strong transcription	A549	lung
5	chr9:117353600-117362600	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr9:117353600-117363400	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr9:117353800-117360800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr9:117354000-117359800	Weak transcription	Fetal Brain Male	brain
9	chr9:117354000-117362600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr9:117354000-117362800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:117354200-117362400	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr9:117354200-117362400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr9:117354200-117363000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr9:117354400-117362000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr9:117354400-117363600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr9:117354400-117363800	Strong transcription	Fetal Lung	lung
17	chr9:117354600-117362600	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr9:117354600-117363000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr9:117354800-117360200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:117354800-117361400	Strong transcription	NH-A	brain
21	chr9:117354800-117361600	Strong transcription	Placenta Amnion	Placenta Amnion
22	chr9:117354800-117361600	Strong transcription	HepG2	liver
23	chr9:117354800-117361800	Strong transcription	HSMM	muscle
24	chr9:117354800-117362000	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr9:117354800-117362200	Strong transcription	Fetal Brain Female	brain
26	chr9:117354800-117363000	Strong transcription	Placenta	Placenta
27	chr9:117354800-117363000	Strong transcription	Fetal Stomach	stomach
28	chr9:117354800-117363200	Strong transcription	Fetal Muscle Trunk	muscle
29	chr9:117354800-117363200	Strong transcription	Fetal Muscle Leg	muscle
30	chr9:117354800-117363400	Strong transcription	NHLF	lung
31	chr9:117355000-117359600	Weak transcription	Brain Angular Gyrus	brain
32	chr9:117355000-117360400	Strong transcription	Brain Substantia Nigra	brain
33	chr9:117355000-117363000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr9:117355000-117363000	Strong transcription	Brain Germinal Matrix	brain
35	chr9:117355000-117363600	Strong transcription	Lung	lung
36	chr9:117355200-117361600	Strong transcription	Brain Anterior Caudate	brain
37	chr9:117355200-117361800	Strong transcription	Colonic Mucosa	Colon
38	chr9:117355200-117362800	Strong transcription	Brain Hippocampus Middle	brain
39	chr9:117355200-117363000	Strong transcription	Left Ventricle	heart
40	chr9:117355200-117363200	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr9:117355400-117361800	Strong transcription	Brain Inferior Temporal Lobe	brain
42	chr9:117355400-117361800	Strong transcription	HMEC	breast
43	chr9:117355400-117362000	Strong transcription	HSMMtube	muscle
44	chr9:117355400-117362600	Strong transcription	NHEK	skin
45	chr9:117355400-117363000	Strong transcription	Esophagus	oesophagus
46	chr9:117355400-117363000	Strong transcription	Fetal Thymus	thymus
47	chr9:117355400-117363200	Strong transcription	Primary neutrophils fromperipheralblood	blood
48	chr9:117355400-117363200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr9:117355400-117363200	Strong transcription	Duodenum Mucosa	Duodenum
50	chr9:117355400-117363400	Strong transcription	Adipose Nuclei	Adipose

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