Variant report

Variant	nsv892603
Chromosome Location	chr9:14446001-14475352
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:14464829..14467118-chr9:14468506..14470700,3	K562	blood:
2	chr9:14465253..14465899-chr9:14652688..14653342,2	MCF-7	breast:
3	chr9:14464829..14467118-chr9:14468506..14470700,3	K562	blood:
4	chr9:14444952..14446557-chr9:14448921..14451689,2	K562	blood:
5	chr9:14406332..14407279-chr9:14452329..14453297,5	MCF-7	breast:
6	chr9:14464829..14467062-chr9:14469072..14470700,2	K562	blood:
7	chr9:14453610..14455700-chr9:14474540..14477172,2	K562	blood:
8	chr9:14465748..14467982-chr9:14470489..14472368,2	MCF-7	breast:
9	chr9:14464938..14465658-chr9:14661578..14662250,2	MCF-7	breast:
10	chr9:14464829..14467062-chr9:14469072..14470700,2	K562	blood:
11	chr9:14422374..14424364-chr9:14459874..14462842,2	K562	blood:
12	chr9:14453610..14455700-chr9:14474540..14477172,2	K562	blood:
13	chr9:14444952..14446557-chr9:14448921..14451689,2	K562	blood:
14	chr9:14465748..14467982-chr9:14470489..14472368,2	MCF-7	breast:
15	chr9:14465217..14466121-chr9:14652305..14653436,3	K562	blood:
16	chr9:14465013..14466518-chr9:14768250..14769873,6	MCF-7	breast:
17	chr9:14406400..14407118-chr9:14452598..14453251,2	MCF-7	breast:

No data

Extended variants
information (count: 622 )
Associated
traits (count: 86 )

Variant overlapped rSNPs/rCNVs (count:622 , 50 per page) page: 1 2 3 4 5 6 7 ... 13

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1556032	chr9:14446001-14446002	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance disease
2	rs148231528	chr9:14446032-14446033	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs532671086	chr9:14446039-14446040	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs112283981	chr9:14446059-14446060	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs569343658	chr9:14446065-14446066	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs146108016	chr9:14446068-14446069	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs140135285	chr9:14446110-14446111	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs143867222	chr9:14446111-14446112	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs534306727	chr9:14446117-14446118	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs191457702	chr9:14446118-14446119	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs577198953	chr9:14446154-14446155	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs184725440	chr9:14446162-14446163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146399580	chr9:14446173-14446174	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs532909398	chr9:14446194-14446195	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs544932095	chr9:14446205-14446206	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541582108	chr9:14446235-14446236	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs377111349	chr9:14446306-14446307	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs139241468	chr9:14446310-14446311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs72700586	chr9:14446312-14446313	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs541147828	chr9:14446333-14446334	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs376965810	chr9:14446341-14446342	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs563909415	chr9:14446364-14446365	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs190718287	chr9:14446475-14446476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs111948848	chr9:14446512-14446513	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs563128293	chr9:14446533-14446534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375573548	chr9:14446548-14446549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs185424412	chr9:14446560-14446561	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs369927899	chr9:14446573-14446574	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs189481450	chr9:14446599-14446600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs548768060	chr9:14446603-14446604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs568695485	chr9:14446617-14446618	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs534265886	chr9:14446656-14446657	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs547906921	chr9:14446685-14446686	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs10961517	chr9:14446690-14446691	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs369751171	chr9:14446704-14446705	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs10961518	chr9:14446721-14446722	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs145242477	chr9:14446738-14446739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs575895533	chr9:14446748-14446749	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs55908353	chr9:14446756-14446757	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs535381873	chr9:14446777-14446778	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs555120796	chr9:14446825-14446826	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs34418193	chr9:14446902-14446903	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs571943246	chr9:14446940-14446941	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs181354796	chr9:14447001-14447002	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs557882589	chr9:14447012-14447013	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs149176698	chr9:14447077-14447078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs112744329	chr9:14447087-14447088	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543365661	chr9:14447089-14447090	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs568290596	chr9:14447122-14447123	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs144721289	chr9:14447149-14447150	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:86)

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
early-passage human iPS cells	21368824	CNVD
Glioblastoma multiforme	18628472	CNVD

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14436400-14447200	Weak transcription	Right Atrium	heart
2	chr9:14447200-14447400	Active TSS	Right Atrium	heart
3	chr9:14450600-14451200	Enhancers	Fetal Brain Male	brain
4	chr9:14451200-14452600	Weak transcription	Fetal Brain Male	brain
5	chr9:14452400-14453000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr9:14452600-14452800	Bivalent Enhancer	Pancreatic Islets	Pancreatic Islet
7	chr9:14452600-14453000	Enhancers	NHEK	skin
8	chr9:14452600-14453400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr9:14452600-14454000	Enhancers	Fetal Brain Male	brain
10	chr9:14452800-14453600	Enhancers	Pancreatic Islets	Pancreatic Islet
11	chr9:14452800-14453800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr9:14453000-14453800	Enhancers	Fetal Kidney	kidney
13	chr9:14453200-14453600	Enhancers	Fetal Brain Female	brain
14	chr9:14453800-14454200	Weak transcription	Fetal Kidney	kidney
15	chr9:14453800-14455400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr9:14454200-14454600	Enhancers	Fetal Kidney	kidney
17	chr9:14455400-14455600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr9:14455400-14455600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:14460800-14461000	Enhancers	Fetal Heart	heart
20	chr9:14461000-14461600	Flanking Active TSS	Fetal Heart	heart
21	chr9:14461600-14462200	Enhancers	Fetal Heart	heart
22	chr9:14464600-14464800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr9:14464600-14465000	Enhancers	Pancreas	Pancrea
24	chr9:14464800-14465800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr9:14465000-14465400	Weak transcription	Pancreas	Pancrea
26	chr9:14465400-14467200	Enhancers	Pancreas	Pancrea
27	chr9:14465600-14465800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr9:14465600-14465800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr9:14465600-14465800	Enhancers	NHEK	skin
30	chr9:14465600-14466000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr9:14465600-14466000	Enhancers	Lung	lung
32	chr9:14465600-14466800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr9:14465600-14467400	Enhancers	HUES6 Cell Line	embryonic stem cell
34	chr9:14465800-14466000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr9:14465800-14466200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr9:14465800-14466200	Flanking Active TSS	Duodenum Mucosa	Duodenum
37	chr9:14465800-14466200	Enhancers	Gastric	stomach
38	chr9:14465800-14466200	Enhancers	HMEC	breast
39	chr9:14465800-14466400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr9:14465800-14466400	Flanking Active TSS	NHEK	skin
41	chr9:14465800-14466600	Enhancers	H9 Cell Line	embryonic stem cell
42	chr9:14465800-14466600	Enhancers	Esophagus	oesophagus
43	chr9:14465800-14466600	Enhancers	HepG2	liver
44	chr9:14465800-14466800	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr9:14465800-14466800	Enhancers	Brain Germinal Matrix	brain
46	chr9:14465800-14466800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
47	chr9:14465800-14467000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:14465800-14467000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr9:14465800-14467200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr9:14465800-14467200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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