Variant report

Variant	nsv892611
Chromosome Location	chr9:14635546-14676174
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	chr9:14464938..14465658-chr9:14661578..14662250,2	MCF-7	breast:
2	chr9:14616153..14617361-chr9:14660905..14661912,4	MCF-7	breast:
3	chr9:14650294..14652492-chr9:14659969..14661655,2	K562	blood:
4	chr9:14465217..14466121-chr9:14652305..14653436,3	K562	blood:
5	chr9:14671286..14673264-chr9:14676237..14678702,2	K562	blood:
6	chr9:14650294..14652492-chr9:14659969..14661655,2	K562	blood:
7	chr9:14655200..14658177-chr9:14659364..14661546,3	K562	blood:
8	chr9:14594419..14596910-chr9:14651251..14653446,2	K562	blood:
9	chr9:14655200..14658776-chr9:14658922..14661546,4	K562	blood:
10	chr9:14465253..14465899-chr9:14652688..14653342,2	MCF-7	breast:
11	chr9:14652918..14654762-chr9:14661773..14663664,2	MCF-7	breast:
12	chr9:14442256..14442845-chr9:14661275..14662107,4	K562	blood:
13	chr9:14673551..14675387-chr9:14691158..14693433,2	MCF-7	breast:
14	chr9:14442114..14442886-chr9:14652552..14653366,4	MCF-7	breast:
15	chr9:14655200..14658776-chr9:14658922..14661546,4	K562	blood:
16	chr9:14655200..14658177-chr9:14659364..14661546,3	K562	blood:
17	chr9:14652918..14654762-chr9:14661773..14663664,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175893	chromatin interactions

Extended variants
information (count: 1848 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1848 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs4490946	chr9:14635546-14635547	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs192706765	chr9:14635588-14635589	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
3	rs374333411	chr9:14635590-14635591	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
4	rs184277225	chr9:14635593-14635594	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs149754689	chr9:14635599-14635600	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs571563936	chr9:14635613-14635614	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs376650177	chr9:14635614-14635615	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
8	rs199623521	chr9:14635728-14635729	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
9	rs112280964	chr9:14635735-14635736	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
10	rs534536824	chr9:14635745-14635746	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
11	rs554483655	chr9:14635760-14635761	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
12	rs11789245	chr9:14635765-14635766	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
13	rs577440552	chr9:14635807-14635808	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
14	rs551118253	chr9:14635808-14635809	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
15	rs369903102	chr9:14635907-14635908	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
16	rs62532735	chr9:14635937-14635938	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs576486907	chr9:14635993-14635994	Weak transcription Strong transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs541956875	chr9:14636004-14636005	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs561790100	chr9:14636039-14636040	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs62532736	chr9:14636056-14636057	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs147769331	chr9:14636095-14636096	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs564059478	chr9:14636106-14636107	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs533042327	chr9:14636110-14636111	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs549955250	chr9:14636120-14636121	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs377362512	chr9:14636138-14636139	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs10961629	chr9:14636160-14636161	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs189225646	chr9:14636183-14636184	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs548888534	chr9:14636200-14636201	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs182281969	chr9:14636244-14636245	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs565708025	chr9:14636306-14636307	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs534624873	chr9:14636331-14636332	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs557752983	chr9:14636336-14636337	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs113691850	chr9:14636344-14636345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs562510917	chr9:14636377-14636378	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs539700578	chr9:14636386-14636387	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs556764854	chr9:14636403-14636404	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs576554095	chr9:14636436-14636437	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs531546034	chr9:14636457-14636458	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs184809946	chr9:14636460-14636461	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs572177201	chr9:14636461-14636462	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs541040552	chr9:14636516-14636517	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs532006301	chr9:14636524-14636525	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
43	rs564281702	chr9:14636550-14636551	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs533258022	chr9:14636554-14636555	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs549803208	chr9:14636557-14636558	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs146931950	chr9:14636559-14636560	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs113259147	chr9:14636635-14636636	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs137972733	chr9:14636637-14636638	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs149064189	chr9:14636644-14636645	Weak transcription Strong transcription Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs12349835	chr9:14636646-14636647	Weak transcription Strong transcription Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a

Variant related diseases (count:94)

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
Pancreatic cancer	21811587	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:483 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14595600-14653600	Weak transcription	NHDF-Ad	bronchial
2	chr9:14596600-14653600	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr9:14597000-14655000	Weak transcription	Stomach Smooth Muscle	stomach
4	chr9:14599800-14654000	Weak transcription	Fetal Heart	heart
5	chr9:14601400-14636800	Weak transcription	Small Intestine	intestine
6	chr9:14605600-14654800	Weak transcription	HSMM	muscle
7	chr9:14610200-14654800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr9:14612800-14641200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr9:14613600-14654600	Weak transcription	Fetal Kidney	kidney
10	chr9:14617200-14646000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr9:14619400-14653600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr9:14619400-14654800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr9:14619600-14654800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr9:14626400-14638600	Weak transcription	HUVEC	blood vessel
15	chr9:14626800-14655000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr9:14627800-14643400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr9:14628000-14639400	Weak transcription	Rectal Smooth Muscle	rectum
18	chr9:14628000-14640800	Weak transcription	Colon Smooth Muscle	Colon
19	chr9:14629200-14636400	Strong transcription	Primary B cells from peripheral blood	blood
20	chr9:14629400-14635800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr9:14629400-14637600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr9:14629400-14654600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr9:14629400-14655000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr9:14630000-14654400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
25	chr9:14630200-14637400	Strong transcription	Primary B cells from cord blood	blood
26	chr9:14630400-14654800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr9:14630600-14635600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr9:14631000-14654000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr9:14631000-14654800	Weak transcription	Brain Anterior Caudate	brain
30	chr9:14631000-14654800	Weak transcription	Brain Hippocampus Middle	brain
31	chr9:14631000-14692400	Weak transcription	HSMMtube	muscle
32	chr9:14631200-14636400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:14631200-14636800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr9:14631200-14637800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr9:14631200-14638200	Weak transcription	Fetal Brain Male	brain
36	chr9:14631200-14638600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr9:14631200-14641200	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr9:14631200-14653600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr9:14631200-14653600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr9:14631200-14653600	Weak transcription	Adipose Nuclei	Adipose
41	chr9:14631400-14653600	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr9:14631600-14653600	Weak transcription	Left Ventricle	heart
43	chr9:14631800-14654000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr9:14632000-14637200	Weak transcription	Primary T cells from cord blood	blood
45	chr9:14632200-14644600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr9:14632600-14637000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr9:14632600-14654000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr9:14632800-14636400	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr9:14633200-14637800	Weak transcription	Fetal Brain Female	brain
50	chr9:14633400-14641000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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