Variant report

Variant	nsv1032861
Chromosome Location	chr9:15378192-15410429
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	chr9:15380318..15382150-chr9:15422368..15424031,2	MCF-7	breast:
2	chr9:15386697..15389614-chr9:15422790..15424352,2	K562	blood:
3	chr9:15305818..15308791-chr9:15400718..15402980,2	MCF-7	breast:
4	chr9:15399457..15401521-chr9:15510230..15512381,2	MCF-7	breast:
5	chr9:15393231..15396045-chr9:15401354..15402871,2	MCF-7	breast:
6	chr9:15372087..15374863-chr9:15401359..15403431,2	MCF-7	breast:
7	chr9:15385459..15387196-chr9:15436159..15438276,2	K562	blood:
8	chr9:15393231..15396045-chr9:15401354..15402871,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000155158	chromatin interactions
ENSG00000164975	chromatin interactions
ENSG00000164985	chromatin interactions

Extended variants
information (count: 1312 )
Associated
traits (count: 87 )

Variant overlapped rSNPs/rCNVs (count:1312 , 50 per page) page: 1 2 3 4 5 6 7 ... 27

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs2804983	chr9:15378192-15378193	Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs538393844	chr9:15378249-15378250	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs556918262	chr9:15378263-15378264	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
4	rs553509653	chr9:15378315-15378316	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
5	rs545440855	chr9:15378319-15378320	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
6	rs111655988	chr9:15378341-15378342	Enhancers Flanking Active TSS Weak transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
7	rs2804982	chr9:15378449-15378450	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
8	rs539690058	chr9:15378473-15378474	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs572941210	chr9:15378488-15378489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs575575258	chr9:15378491-15378492	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs558694733	chr9:15378529-15378530	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs11792103	chr9:15378560-15378561	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs74733679	chr9:15378566-15378567	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs187673265	chr9:15378616-15378617	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs543976836	chr9:15378636-15378637	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs192123006	chr9:15378642-15378643	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533054081	chr9:15378662-15378663	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs10810385	chr9:15378670-15378671	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs76759401	chr9:15378681-15378682	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs574973298	chr9:15378810-15378811	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs560275089	chr9:15378818-15378819	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs559874291	chr9:15378834-15378835	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs200395701	chr9:15378838-15378839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs532222536	chr9:15378850-15378851	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs552221242	chr9:15378853-15378854	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs184214952	chr9:15378866-15378867	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs567734348	chr9:15378936-15378937	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs2804981	chr9:15378985-15378986	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
29	rs550381169	chr9:15378998-15378999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs560623880	chr9:15379012-15379013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs571937620	chr9:15379016-15379017	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs538961503	chr9:15379031-15379032	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs557774504	chr9:15379039-15379040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs368903623	chr9:15379049-15379050	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs368510055	chr9:15379075-15379076	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs78204952	chr9:15379099-15379100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs548504144	chr9:15379100-15379101	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs2996232	chr9:15379144-15379145	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533500434	chr9:15379158-15379159	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs555067642	chr9:15379162-15379163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs573368695	chr9:15379169-15379170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs544039048	chr9:15379176-15379177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs13294528	chr9:15379177-15379178	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs192763117	chr9:15379189-15379190	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs577907702	chr9:15379202-15379203	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs375912516	chr9:15379212-15379213	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112250914	chr9:15379218-15379219	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs2997862	chr9:15379226-15379227	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
49	rs543009020	chr9:15379262-15379263	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs533798258	chr9:15379268-15379269	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:87)

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
Ovarian cancer	19835627	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:15377600-15378200	Enhancers	Fetal Intestine Small	intestine
2	chr9:15377800-15378200	Flanking Active TSS	Fetal Lung	lung
3	chr9:15377800-15378800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr9:15378000-15378200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr9:15378000-15378200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr9:15378000-15378200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr9:15378000-15378200	Flanking Active TSS	Ovary	ovary
8	chr9:15378000-15378400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:15378000-15378400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr9:15378000-15378800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr9:15378200-15378400	Active TSS	Ovary	ovary
12	chr9:15378200-15378600	Enhancers	Fetal Lung	lung
13	chr9:15378200-15380000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr9:15378400-15378800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr9:15378600-15379400	Weak transcription	Fetal Lung	lung
16	chr9:15379400-15379600	Enhancers	Fetal Lung	lung
17	chr9:15380000-15381000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr9:15380600-15380800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:15386200-15386600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr9:15386200-15387000	Enhancers	K562	blood
21	chr9:15387000-15389200	Weak transcription	K562	blood
22	chr9:15387400-15388000	Enhancers	Fetal Intestine Small	intestine
23	chr9:15387400-15393800	Enhancers	Fetal Intestine Large	intestine
24	chr9:15388000-15388400	Weak transcription	Fetal Intestine Small	intestine
25	chr9:15388400-15394200	Enhancers	Fetal Intestine Small	intestine
26	chr9:15389000-15389600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr9:15389000-15389800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr9:15389000-15389800	Enhancers	Colonic Mucosa	Colon
29	chr9:15389000-15389800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
30	chr9:15389200-15389800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr9:15389200-15389800	Enhancers	K562	blood
32	chr9:15389200-15390800	Enhancers	Fetal Kidney	kidney
33	chr9:15389200-15391000	Enhancers	Duodenum Mucosa	Duodenum
34	chr9:15389400-15391400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr9:15389600-15389800	Enhancers	Rectal Mucosa Donor 29	rectum
36	chr9:15389800-15390400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr9:15389800-15390800	Weak transcription	Colonic Mucosa	Colon
38	chr9:15389800-15391000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr9:15390200-15390800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr9:15390200-15391200	Enhancers	HepG2	liver
41	chr9:15390400-15390800	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr9:15390600-15391000	Enhancers	Stomach Mucosa	stomach
43	chr9:15390800-15391200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr9:15390800-15391800	Enhancers	Colonic Mucosa	Colon
45	chr9:15391000-15391200	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr9:15391000-15391400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr9:15391200-15391600	Enhancers	Duodenum Mucosa	Duodenum
48	chr9:15391200-15391800	Enhancers	Rectal Mucosa Donor 29	rectum
49	chr9:15391400-15392600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr9:15391400-15400800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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