Variant report

Variant	nsv613649
Chromosome Location	chr9:15057624-15083613
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:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr17:41398994..41400824-chr9:15066951..15068451,2	K562	blood:
2	chr4:153844459..153845960-chr9:15065470..15068450,2	K562	blood:
3	chr17:41380280..41381950-chr9:15066950..15068451,3	MCF-7	breast:
4	chr17:41462152..41463715-chr9:15065450..15066970,3	MCF-7	breast:
5	chr17:41380109..41382138-chr9:15066951..15068451,2	MCF-7	breast:
6	chr17:41399132..41401887-chr9:15065450..15066950,2	K562	blood:
7	chr17:41380667..41383523-chr9:15065470..15068471,3	K562	blood:
8	chr10:103123110..103126109-chr9:15066951..15068470,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236383	chromatin interactions
ENSG00000222414	chromatin interactions

Extended variants
information (count: 811 )
Associated
traits (count: 85 )

Variant overlapped rSNPs/rCNVs (count:811 , 50 per page) page: 1 2 3 4 5 6 7 ... 17

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7031476	chr9:15057624-15057625	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs558254005	chr9:15057632-15057633	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs573388972	chr9:15057635-15057636	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs72698517	chr9:15057641-15057642	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs556024488	chr9:15057689-15057690	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs574271980	chr9:15057747-15057748	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs544619211	chr9:15057752-15057753	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs563206354	chr9:15057796-15057797	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs530380911	chr9:15057805-15057806	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs545417956	chr9:15057816-15057817	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs563805342	chr9:15057857-15057858	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs528208765	chr9:15057910-15057911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs181317017	chr9:15057927-15057928	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs369813038	chr9:15057963-15057964	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs186056072	chr9:15057999-15058000	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs144466775	chr9:15058006-15058007	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs146633926	chr9:15058034-15058035	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs72698518	chr9:15058053-15058054	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs74480585	chr9:15058077-15058078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs569150404	chr9:15058099-15058100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs190969413	chr9:15058103-15058104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs551342619	chr9:15058116-15058117	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs181967828	chr9:15058128-15058129	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs566956457	chr9:15058166-15058167	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs7862574	chr9:15058180-15058181	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs199642776	chr9:15058196-15058197	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs572210337	chr9:15058219-15058220	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs574103043	chr9:15058226-15058227	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs544799082	chr9:15058231-15058232	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs556543534	chr9:15058236-15058237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs11795241	chr9:15058263-15058264	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs7862506	chr9:15058299-15058300	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs563771041	chr9:15058303-15058304	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs150187633	chr9:15058304-15058305	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs56726621	chr9:15058338-15058339	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs561832930	chr9:15058373-15058374	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs544484265	chr9:15058374-15058375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs529047340	chr9:15058377-15058378	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs186342939	chr9:15058448-15058449	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs138840965	chr9:15058460-15058461	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs56052445	chr9:15058462-15058463	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs369560262	chr9:15058492-15058493	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs190644047	chr9:15058503-15058504	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs571945089	chr9:15058550-15058551	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs534186804	chr9:15058569-15058570	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs549167610	chr9:15058580-15058581	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs7863014	chr9:15058660-15058661	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
48	rs377682525	chr9:15058666-15058667	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371118891	chr9:15058674-15058675	Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs538026120	chr9:15058677-15058678	Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:85)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
abnormal development	18461090	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	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
Acute lymphoblastic leukemia	20435627	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Breast cancer	21858162	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Breast cancer	21364760	CNVD
Prostate cancer	16573809	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Myelofibrosis	22110671	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Breast cancer	21611746	CNVD
Glycine encephalopathy	21572526	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Glioblastoma multiforme	18628472	CNVD

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15057600-15057800	Enhancers	Fetal Lung	lung
2	chr9:15057800-15058400	Weak transcription	Fetal Lung	lung
3	chr9:15058400-15059000	Enhancers	Fetal Lung	lung
4	chr9:15059000-15060200	Weak transcription	Fetal Lung	lung
5	chr9:15059200-15059800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr9:15060200-15060600	Enhancers	Fetal Lung	lung
7	chr9:15064600-15065000	Enhancers	HepG2	liver
8	chr9:15066400-15067000	Enhancers	Fetal Lung	lung
9	chr9:15066600-15068800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr9:15066800-15067000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr9:15067000-15067400	Weak transcription	Fetal Lung	lung
12	chr9:15067000-15070000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr9:15067400-15068000	Enhancers	Fetal Lung	lung
14	chr9:15067600-15068400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr9:15067600-15068600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr9:15068000-15070600	Weak transcription	Fetal Lung	lung
17	chr9:15068000-15071800	Enhancers	HUVEC	blood vessel
18	chr9:15068600-15069400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
19	chr9:15069400-15069600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr9:15069600-15071600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr9:15070600-15071000	Enhancers	Fetal Lung	lung
22	chr9:15071600-15071800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr9:15075600-15076200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr9:15076200-15080000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr9:15076200-15080000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:15077200-15084200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr9:15077400-15078200	Enhancers	Fetal Lung	lung
28	chr9:15078000-15082000	Enhancers	HepG2	liver
29	chr9:15078200-15078800	Flanking Active TSS	Fetal Lung	lung
30	chr9:15078400-15078600	Enhancers	Pancreas	Pancrea
31	chr9:15078800-15079800	Enhancers	Fetal Lung	lung
32	chr9:15078800-15080000	Weak transcription	Pancreas	Pancrea
33	chr9:15079800-15080200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr9:15079800-15085400	Weak transcription	Fetal Lung	lung
35	chr9:15080000-15080200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr9:15080000-15080200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr9:15080000-15080600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr9:15080000-15080600	Enhancers	Pancreas	Pancrea
39	chr9:15080000-15080800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr9:15080200-15086400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr9:15080600-15081000	Weak transcription	Pancreas	Pancrea
42	chr9:15080800-15081400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr9:15081000-15082400	Enhancers	Pancreas	Pancrea
44	chr9:15081400-15081600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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