Variant report

Variant	nsv892064
Chromosome Location	chr9:2301610-2447910
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	chr9:2333652..2336415-chr9:2621221..2622791,2	MCF-7	breast:
2	chr9:2335812..2338035-chr9:2341360..2343149,2	MCF-7	breast:
3	chr9:2419060..2420979-chr9:2425024..2427147,2	K562	blood:
4	chr9:2353709..2355330-chr9:2357162..2359493,2	K562	blood:
5	chr9:2332261..2334098-chr9:2335447..2337175,2	MCF-7	breast:
6	chr9:2353709..2356767-chr9:2357162..2361529,4	K562	blood:
7	chr9:2377530..2380377-chr9:2380910..2383194,2	MCF-7	breast:
8	chr9:2377530..2380377-chr9:2380910..2383194,2	MCF-7	breast:
9	chr9:2321723..2322570-chr9:2728160..2728820,2	MCF-7	breast:
10	chr9:2335812..2338035-chr9:2341360..2343149,2	MCF-7	breast:
11	chr9:2332261..2334098-chr9:2335447..2337175,2	MCF-7	breast:
12	chr9:2422977..2424644-chr9:2426365..2429153,2	MCF-7	breast:
13	chr9:2422977..2424644-chr9:2426365..2429153,2	MCF-7	breast:
14	chr9:2367757..2369969-chr9:2374700..2376724,2	K562	blood:
15	chr9:2367757..2369969-chr9:2374700..2376724,2	K562	blood:
16	chr9:2334689..2336340-chr9:2621369..2623518,2	MCF-7	breast:
17	chr9:2353709..2355330-chr9:2357162..2359493,2	K562	blood:
18	chr9:2353709..2356767-chr9:2357162..2361529,4	K562	blood:
19	chr9:2335749..2336338-chr9:2727775..2728597,3	MCF-7	breast:
20	chr9:2419060..2420979-chr9:2425024..2427147,2	K562	blood:

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

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

No data

Variant related genes	Relation type
ENSG00000236404	chromatin interactions
ENSG00000147852	chromatin interactions

Extended variants
information (count: 6660 )
Associated
traits (count: 101 )

Variant overlapped rSNPs/rCNVs (count:6660 , 50 per page) page: 1 2 3 4 5 6 7 ... 134

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs548188947	chr9:2302212-2302213	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs550098624	chr9:2302215-2302216	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs569998593	chr9:2302281-2302282	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs74468338	chr9:2302293-2302294	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558907003	chr9:2302307-2302308	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs78187958	chr9:2302327-2302328	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs534812892	chr9:2302338-2302339	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555099525	chr9:2302343-2302344	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs574928387	chr9:2302377-2302378	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs543823583	chr9:2302399-2302400	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs374288909	chr9:2302406-2302407	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs556528568	chr9:2302419-2302420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs576283184	chr9:2302444-2302445	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs185149890	chr9:2302451-2302452	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs564939255	chr9:2302462-2302463	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs527432965	chr9:2302469-2302470	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs74721958	chr9:2302475-2302476	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs560638244	chr9:2302488-2302489	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs529675460	chr9:2302534-2302535	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs143481373	chr9:2302546-2302547	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs569281065	chr9:2302558-2302559	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10119429	chr9:2302578-2302579	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs55750747	chr9:2302593-2302594	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs149191802	chr9:2302601-2302602	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs34814746	chr9:2302602-2302603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs143319239	chr9:2302603-2302604	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs556247036	chr9:2302614-2302615	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs137928245	chr9:2302654-2302655	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs372361626	chr9:2302664-2302665	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs569690884	chr9:2302674-2302675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs150401468	chr9:2302675-2302676	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs7032999	chr9:2302693-2302694	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs12002333	chr9:2302747-2302748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs189956427	chr9:2302778-2302779	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs557409814	chr9:2302813-2302814	Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs577130433	chr9:2302820-2302821	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs78486938	chr9:2302870-2302871	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs73638108	chr9:2302872-2302873	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs555409140	chr9:2302878-2302879	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs574389282	chr9:2302881-2302882	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs558809553	chr9:2302886-2302887	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs572185086	chr9:2302915-2302916	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs369621410	chr9:2302917-2302918	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs182544161	chr9:2302935-2302936	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs376113012	chr9:2302945-2302946	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs572283766	chr9:2302948-2302949	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs540917360	chr9:2303019-2303020	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs7033234	chr9:2303034-2303035	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs188654179	chr9:2303045-2303046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs7036542	chr9:2303054-2303055	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:578 , 50 per page) page: 1 2 3 4 5 6 7 ... 12

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:2302200-2303600	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr9:2302600-2303200	Enhancers	Adipose Nuclei	Adipose
3	chr9:2305200-2306200	Enhancers	Lung	lung
4	chr9:2311600-2314000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
5	chr9:2313200-2317000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr9:2313600-2314200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
7	chr9:2313600-2314600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
8	chr9:2313600-2314600	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr9:2313600-2314800	ZNF genes & repeats	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr9:2313800-2314000	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr9:2313800-2314400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr9:2314000-2314400	ZNF genes & repeats	iPS-15b Cell Line	embryonic stem cell
13	chr9:2314400-2314600	ZNF genes & repeats	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr9:2314400-2316600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr9:2314600-2316800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:2314800-2332800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr9:2316600-2317000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr9:2316600-2317800	Enhancers	Placenta	Placenta
19	chr9:2316800-2317200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr9:2316800-2318600	Enhancers	HMEC	breast
21	chr9:2317000-2318000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr9:2317000-2318600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr9:2317200-2317800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr9:2317200-2318200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr9:2317200-2318400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr9:2318200-2319200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:2318600-2319000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr9:2318600-2319800	Weak transcription	HMEC	breast
29	chr9:2319000-2320000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr9:2319200-2319400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr9:2319800-2320000	Enhancers	HMEC	breast
32	chr9:2321200-2322000	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr9:2321200-2322200	Enhancers	Primary neutrophils fromperipheralblood	blood
34	chr9:2321400-2322000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr9:2321600-2322400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr9:2332400-2332800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
37	chr9:2332600-2333000	Enhancers	Fetal Muscle Trunk	muscle
38	chr9:2332600-2333200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr9:2332800-2333000	Enhancers	H9 Cell Line	embryonic stem cell
40	chr9:2332800-2333000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr9:2333000-2334400	Weak transcription	Fetal Muscle Trunk	muscle
42	chr9:2333000-2335200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr9:2334400-2335400	Enhancers	Fetal Muscle Trunk	muscle
44	chr9:2334800-2335600	Enhancers	Ovary	ovary
45	chr9:2334800-2335600	Enhancers	Right Atrium	heart
46	chr9:2334800-2339000	Enhancers	Adipose Nuclei	Adipose
47	chr9:2335000-2335400	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr9:2335000-2335400	Enhancers	Spleen	Spleen
49	chr9:2335000-2335600	Enhancers	Fetal Muscle Leg	muscle
50	chr9:2335000-2335600	Enhancers	Left Ventricle	heart

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