Variant report

Variant	nsv466080
Chromosome Location	chr9:2318486-2432800
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:20)
LncRNA
region (count:11)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:2377530..2380377-chr9:2380910..2383194,2	MCF-7	breast:
2	chr9:2367757..2369969-chr9:2374700..2376724,2	K562	blood:
3	chr9:2321723..2322570-chr9:2728160..2728820,2	MCF-7	breast:
4	chr9:2419060..2420979-chr9:2425024..2427147,2	K562	blood:
5	chr9:2334689..2336340-chr9:2621369..2623518,2	MCF-7	breast:
6	chr9:2419060..2420979-chr9:2425024..2427147,2	K562	blood:
7	chr9:2335749..2336338-chr9:2727775..2728597,3	MCF-7	breast:
8	chr9:2353709..2355330-chr9:2357162..2359493,2	K562	blood:
9	chr9:2353709..2356767-chr9:2357162..2361529,4	K562	blood:
10	chr9:2335812..2338035-chr9:2341360..2343149,2	MCF-7	breast:
11	chr9:2332261..2334098-chr9:2335447..2337175,2	MCF-7	breast:
12	chr9:2367757..2369969-chr9:2374700..2376724,2	K562	blood:
13	chr9:2333652..2336415-chr9:2621221..2622791,2	MCF-7	breast:
14	chr9:2335812..2338035-chr9:2341360..2343149,2	MCF-7	breast:
15	chr9:2353709..2355330-chr9:2357162..2359493,2	K562	blood:
16	chr9:2422977..2424644-chr9:2426365..2429153,2	MCF-7	breast:
17	chr9:2353709..2356767-chr9:2357162..2361529,4	K562	blood:
18	chr9:2332261..2334098-chr9:2335447..2337175,2	MCF-7	breast:
19	chr9:2422977..2424644-chr9:2426365..2429153,2	MCF-7	breast:
20	chr9:2377530..2380377-chr9:2380910..2383194,2	MCF-7	breast:

(count:11 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-KIAA0020-1	chr9:2423837-2423844	NONHSAT129995
2	lnc-KIAA0020-1	chr9:2415397-2415540	l_3727_chr9:2411588-2611526_ovary
3	lnc-KIAA0020-1	chr9:2422702-2424510	ENSG00000236404
4	lnc-VLDLR-2	chr9:2408820-2408888	XLOC_007266
5	lnc-KIAA0020-1	chr9:2423860-2427978	NONHSAT129995
6	lnc-VLDLR-2	chr9:2429811-2429986	XLOC_007266
7	lnc-KIAA0020-1	chr9:2425397-2425540	ENSG00000236404.4
8	lnc-KIAA0020-1	chr9:2422702-2424510	ENSG00000236404.4
9	lnc-KIAA0020-1	chr9:2425393-2425545	ENSG00000236404
10	lnc-KIAA0020-1	chr9:2411589-2414510	l_3727_chr9:2411588-2611526_ovary
11	lnc-VLDLR-2	chr9:2390027-2390054	XLOC_007266

No data

Variant related genes	Relation type
ENSG00000147852	chromatin interactions
ENSG00000236404	chromatin interactions

Extended variants
information (count: 5399 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:5399 , 50 per page) page: 1 2 3 4 5 6 7 ... 108

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1331815	chr9:2318486-2318487	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs370630071	chr9:2318518-2318519	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs568969095	chr9:2318522-2318523	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs11794802	chr9:2318554-2318555	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189159256	chr9:2318574-2318575	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs193119532	chr9:2318594-2318595	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs561405271	chr9:2318606-2318607	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs530392079	chr9:2318607-2318608	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs13440380	chr9:2318608-2318609	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
10	rs374207509	chr9:2318626-2318627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs141056576	chr9:2318635-2318636	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs541142673	chr9:2318740-2318741	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs377614613	chr9:2318743-2318744	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs183651721	chr9:2318756-2318757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs566099035	chr9:2318757-2318758	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs80336333	chr9:2318854-2318855	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs186818385	chr9:2318856-2318857	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs547267854	chr9:2318857-2318858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs528453007	chr9:2318887-2318888	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs564212698	chr9:2318905-2318906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs548534924	chr9:2318910-2318911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs371402974	chr9:2318925-2318926	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs567464791	chr9:2318931-2318932	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs191779191	chr9:2318942-2318943	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs555940414	chr9:2318944-2318945	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs569510390	chr9:2318954-2318955	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs138786926	chr9:2318996-2318997	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs142066713	chr9:2318997-2318998	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs146300085	chr9:2319006-2319007	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs534346054	chr9:2319014-2319015	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs376100342	chr9:2319015-2319016	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs554515731	chr9:2319017-2319018	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs575219587	chr9:2319051-2319052	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs544084922	chr9:2319099-2319100	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs563919311	chr9:2319100-2319101	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs184325542	chr9:2319116-2319117	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs111940866	chr9:2319117-2319118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs559613388	chr9:2319144-2319145	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549374062	chr9:2319162-2319163	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs12347568	chr9:2319174-2319175	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
41	rs548298912	chr9:2319192-2319193	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs562064823	chr9:2319223-2319224	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs529981508	chr9:2319259-2319260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs549653178	chr9:2319260-2319261	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs569551294	chr9:2319281-2319282	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs566295035	chr9:2319343-2319344	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs141806834	chr9:2319374-2319375	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs528671288	chr9:2319466-2319467	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs547544930	chr9:2319482-2319483	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs552323865	chr9:2319493-2319494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:101)

Disease	PMID	Source
Gastric cancer	16715143	CNVD
Glioblastoma multiforme	22286061	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Intracranial aneurysm	16715129	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Disorders of sex development	22290220	CNVD
Glioblastoma multiforme	21080181	CNVD
Sudden cardiac death	19188705	CNVD
Non-small cell lung cancer	21829676	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Non-small cell lung cancer	21952639	CNVD
Disorders of sex development	21048976	CNVD
Neuroblastoma	18923191	CNVD
Intellectual disability	22102821	CNVD
abnormal development	18461090	CNVD
Honadal dysgenesis	21048976	CNVD
Medulloblastoma	21979893	CNVD
Lung cancer	16740712	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Hepatocellular carcinoma	16750200	CNVD
Breast cancer	17133270	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Cervical cancer	21063398	CNVD
Retinoblastoma	22278416	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Melanoma	18172304	CNVD
Biliary cancer	19435499	CNVD
Gastric cancer	21586687	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myopathy	18421352	CNVD
Neuroblastoma	18664255	CNVD
Acute lymphoblastic leukemia	18957548	CNVD
Myeloproliferative neoplasm	17564968	CNVD
Malignant meningioma	17937814	CNVD
Glioma	21971842	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oligodendroglial tumors	17285580	CNVD
Cutaneous squamous cell carcinomas	19131950	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chordoma	18071362	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Chordoma	21602918	CNVD
Renal cell carcinoma	18592004	CNVD
Developmental delay	19490664	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	CNVD
Chronic myeloid leukemia	21384125	CNVD
Ovarian cancer	21720365	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21147756	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Lung cancer	18438408	CNVD
Autism	20531469	CNVD
XY gonadal dysgenesis	20685758	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Myelodysplastic syndrome	21251322	CNVD
Breast cancer	21785460	CNVD
Prostate cancer	18632612	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Gastrointestinal stromal cancer	20877625	CNVD
Myelofibrosis	22110671	CNVD
Developmental delay	21373258	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Hepatocellular carcinoma	18803288	CNVD
Schizophrenia	23813976	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Chordoma	21215367	CNVD

Chromatin state (count:538 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2314800-2332800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr9:2316800-2318600	Enhancers	HMEC	breast
3	chr9:2317000-2318600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr9:2318200-2319200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr9:2318600-2319000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:2318600-2319800	Weak transcription	HMEC	breast
7	chr9:2319000-2320000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr9:2319200-2319400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr9:2319800-2320000	Enhancers	HMEC	breast
10	chr9:2321200-2322000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr9:2321200-2322200	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr9:2321400-2322000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr9:2321600-2322400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:2332400-2332800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:2332600-2333000	Enhancers	Fetal Muscle Trunk	muscle
16	chr9:2332600-2333200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:2332800-2333000	Enhancers	H9 Cell Line	embryonic stem cell
18	chr9:2332800-2333000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr9:2333000-2334400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr9:2333000-2335200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr9:2334400-2335400	Enhancers	Fetal Muscle Trunk	muscle
22	chr9:2334800-2335600	Enhancers	Ovary	ovary
23	chr9:2334800-2335600	Enhancers	Right Atrium	heart
24	chr9:2334800-2339000	Enhancers	Adipose Nuclei	Adipose
25	chr9:2335000-2335400	Enhancers	Skeletal Muscle Female	skeletal muscle
26	chr9:2335000-2335400	Enhancers	Spleen	Spleen
27	chr9:2335000-2335600	Enhancers	Fetal Muscle Leg	muscle
28	chr9:2335000-2335600	Enhancers	Left Ventricle	heart
29	chr9:2335000-2335600	Enhancers	Right Ventricle	heart
30	chr9:2335200-2335400	Enhancers	H9 Cell Line	embryonic stem cell
31	chr9:2335200-2335400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr9:2335200-2335600	Enhancers	Psoas Muscle	Psoas
33	chr9:2335200-2336000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:2335400-2335600	Enhancers	Colon Smooth Muscle	Colon
35	chr9:2335400-2336200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr9:2335600-2337000	Weak transcription	Fetal Muscle Leg	muscle
37	chr9:2335600-2337000	Weak transcription	Right Atrium	heart
38	chr9:2335600-2337400	Weak transcription	Colon Smooth Muscle	Colon
39	chr9:2335600-2337600	Weak transcription	Psoas Muscle	Psoas
40	chr9:2335600-2337800	Weak transcription	Ovary	ovary
41	chr9:2335600-2346600	Weak transcription	Left Ventricle	heart
42	chr9:2336000-2337200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr9:2336200-2336400	Enhancers	H9 Cell Line	embryonic stem cell
44	chr9:2336200-2336800	Enhancers	Placenta Amnion	Placenta Amnion
45	chr9:2336400-2337400	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr9:2336600-2337200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr9:2337000-2337200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr9:2337000-2337200	Enhancers	Fetal Muscle Leg	muscle
49	chr9:2337000-2337400	Enhancers	Right Atrium	heart
50	chr9:2337000-2339000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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