Variant report

Variant	nsv8522
Chromosome Location	chr9:72009272-72034735
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:13)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:71650287..71651089-chr9:72027660..72028217,2	K562	blood:
2	chr9:71907137..71907714-chr9:72027328..72028069,2	MCF-7	breast:
3	chr9:72009613..72012397-chr9:72013386..72015808,3	MCF-7	breast:
4	chr9:72009613..72012397-chr9:72013386..72015808,3	MCF-7	breast:
5	chr9:72005489..72008452-chr9:72026108..72027745,2	K562	blood:
6	chr9:72027288..72028201-chr9:72161004..72161637,2	MCF-7	breast:
7	chr9:72000714..72007830-chr9:72009954..72019278,14	MCF-7	breast:
8	chr9:72008297..72012521-chr9:72012809..72015808,4	MCF-7	breast:
9	chr9:71999516..72001197-chr9:72009030..72011371,2	MCF-7	breast:
10	chr9:71938263..71940999-chr9:72013792..72015561,2	MCF-7	breast:
11	chr9:72027335..72027966-chr9:72164135..72164934,2	MCF-7	breast:
12	chr9:71939359..71941808-chr9:72025736..72028094,2	MCF-7	breast:
13	chr9:72008297..72012521-chr9:72012809..72015808,4	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-APBA1-2	chr9:72009222-72010989	XLOC_007725
2	lnc-APBA1-2	chr9:72013650-72013753	XLOC_007725

No data

Variant related genes	Relation type
ENSG00000135063	chromatin interactions
ENSG00000165060	chromatin interactions
ARNTL	miRNA target sites
PTEN	miRNA target sites

Extended variants
information (count: 1053 )
Associated
traits (count: 60 )

Variant overlapped rSNPs/rCNVs (count:1053 , 50 per page) page: 1 2 3 4 5 6 7 ... 22

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs145705230	chr9:72009277-72009278	Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
2	rs56111101	chr9:72009278-72009279	Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
3	rs138353712	chr9:72009327-72009328	Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
4	rs553823675	chr9:72009356-72009357	Weak transcription Genic enhancers Enhancers	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
5	rs183778213	chr9:72009439-72009440	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
6	rs573643767	chr9:72009469-72009470	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
7	rs566197728	chr9:72009483-72009484	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
8	rs13296504	chr9:72009501-72009502	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs3896424	chr9:72009528-72009529	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs557758389	chr9:72009545-72009546	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
11	rs576336030	chr9:72009556-72009557	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
12	rs62570213	chr9:72009587-72009588	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs145027849	chr9:72009598-72009599	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
14	rs138716068	chr9:72009599-72009600	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
15	rs375690952	chr9:72009640-72009641	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
16	rs369499286	chr9:72009645-72009646	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
17	rs149434081	chr9:72009669-72009670	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
18	rs574210423	chr9:72009674-72009675	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
19	rs541544548	chr9:72009714-72009715	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
20	rs189316924	chr9:72009799-72009800	Weak transcription Genic enhancers Enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
21	rs144816097	chr9:72009817-72009818	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
22	rs182460904	chr9:72009818-72009819	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
23	rs576203957	chr9:72009843-72009844	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
24	rs186643530	chr9:72009884-72009885	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
25	rs58465814	chr9:72009899-72009900	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs375977412	chr9:72009914-72009915	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
27	rs148565634	chr9:72009924-72009925	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
28	rs112100689	chr9:72009931-72009932	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
29	rs528364447	chr9:72009933-72009934	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
30	rs190163634	chr9:72009945-72009946	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
31	rs568243167	chr9:72009963-72009964	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
32	rs143956620	chr9:72009999-72010000	Weak transcription Enhancers Genic enhancers Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
33	rs147295356	chr9:72010008-72010009	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
34	rs4744567	chr9:72010028-72010029	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
35	rs10746613	chr9:72010136-72010137	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs558866052	chr9:72010148-72010149	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
37	rs386734787	chr9:72010155-72010156	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
38	rs10780344	chr9:72010156-72010157	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs561624319	chr9:72010158-72010159	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
40	rs140447670	chr9:72010178-72010179	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
41	rs114729334	chr9:72010237-72010238	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
42	rs73459141	chr9:72010258-72010259	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs529989789	chr9:72010286-72010287	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
44	rs77636208	chr9:72010319-72010320	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
45	rs149805875	chr9:72010328-72010329	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
46	rs5898078	chr9:72010329-72010330	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
47	rs144017701	chr9:72010331-72010332	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
48	rs200362041	chr9:72010332-72010333	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
49	rs398068619	chr9:72010334-72010335	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a
50	rs199826027	chr9:72010335-72010336	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:60)

Disease	PMID	Source
Breast cancer	17133270	CNVD
Chordoma	18071362	CNVD
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
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Cancer	20164919	CNVD
Urothelial carcinoma	21177765	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Melanoma	18172304	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Melanoma	22183965	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
Leukemia	18688285	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
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
small cell lung cancer	20016488	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute myeloid leukemia	21251322	CNVD
Breast cancer	17899364	CNVD
Mantle cell lymphoma	19029149	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	20729466	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Breast cancer	17603634	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Oral cancer	21386901	CNVD
Epilepsy	22083797	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:269 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71991800-72012200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr9:71992000-72009800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr9:71995000-72012600	Weak transcription	Aorta	Aorta
4	chr9:71997400-72009800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr9:72002800-72012400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:72003400-72010000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr9:72003400-72012400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr9:72003400-72012400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr9:72003600-72026200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr9:72006200-72013400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr9:72006400-72010000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr9:72006400-72010000	Enhancers	Right Ventricle	heart
13	chr9:72006400-72010400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr9:72006800-72010600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr9:72007000-72012800	Weak transcription	Esophagus	oesophagus
16	chr9:72007200-72010600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr9:72007400-72010600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr9:72007400-72012200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr9:72007600-72010400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr9:72007600-72012200	Weak transcription	Adipose Nuclei	Adipose
21	chr9:72007600-72026800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr9:72007800-72009400	Weak transcription	Brain Hippocampus Middle	brain
23	chr9:72007800-72009800	Weak transcription	Brain Substantia Nigra	brain
24	chr9:72007800-72011800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr9:72007800-72012400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr9:72008000-72009800	Weak transcription	Brain Cingulate Gyrus	brain
27	chr9:72008000-72012600	Weak transcription	HSMMtube	muscle
28	chr9:72008200-72009600	Weak transcription	Brain Anterior Caudate	brain
29	chr9:72008200-72010400	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr9:72008200-72012000	Weak transcription	Colon Smooth Muscle	Colon
31	chr9:72008200-72012400	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr9:72008400-72010000	Weak transcription	Brain Angular Gyrus	brain
33	chr9:72008400-72010400	Weak transcription	Gastric	stomach
34	chr9:72008400-72012400	Weak transcription	Fetal Muscle Leg	muscle
35	chr9:72008400-72012400	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr9:72008600-72010400	Weak transcription	Fetal Muscle Trunk	muscle
37	chr9:72008600-72012600	Weak transcription	Ovary	ovary
38	chr9:72008800-72010400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr9:72009000-72009400	Weak transcription	Fetal Stomach	stomach
40	chr9:72009000-72009600	Enhancers	Fetal Heart	heart
41	chr9:72009000-72011800	Weak transcription	Psoas Muscle	Psoas
42	chr9:72009000-72011800	Weak transcription	Stomach Smooth Muscle	stomach
43	chr9:72009000-72012000	Weak transcription	Left Ventricle	heart
44	chr9:72009000-72012000	Weak transcription	Right Atrium	heart
45	chr9:72009000-72024400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr9:72009400-72011200	Strong transcription	Fetal Stomach	stomach
47	chr9:72009400-72013200	Enhancers	Brain Hippocampus Middle	brain
48	chr9:72009600-72010200	Genic enhancers	Fetal Heart	heart
49	chr9:72009600-72012400	Enhancers	Brain Anterior Caudate	brain
50	chr9:72009800-72010000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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