Variant report

Variant	nsv892607
Chromosome Location	chr9:14589173-14622952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:271)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:6)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:271 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr9:14616384-14616695	HepG2	liver:	n/a	n/a
2	ARID3A	chr9:14616366-14616729	K562	blood:	n/a	n/a
3	BHLHE40	chr9:14616435-14616720	GM12878	blood:	n/a	n/a
4	CBX3	chr9:14593377-14593719	K562	blood:	n/a	n/a
5	CEBPB	chr9:14593561-14593669	HepG2	liver:	n/a	n/a
6	CEBPB	chr9:14593410-14593662	K562	blood:	n/a	n/a
7	CEBPB	chr9:14620535-14620536	HepG2	liver:	n/a	n/a
8	CHD2	chr9:14616421-14616609	GM12878	blood:	n/a	n/a
9	CTCF	chr9:14616520-14616670	K562	blood:	n/a	n/a
10	CTCF	chr9:14616202-14616845	HCT-116	colon:	n/a	n/a
11	CTCF	chr9:14616433-14616677	H1-hESC	embryonic stem cell:	n/a	n/a
12	CTCF	chr9:14616540-14616690	A549	lung:	n/a	n/a
13	CTCF	chr9:14616480-14616630	AG10803	skin:	n/a	n/a
14	CTCF	chr9:14616500-14616650	HCPEpiC	choroid plexus:	n/a	n/a
15	CTCF	chr9:14616500-14616650	HEK293	kidney:	n/a	n/a
16	CTCF	chr9:14616424-14616741	ECC-1	luminal epithelium:	n/a	n/a
17	CTCF	chr9:14616480-14616630	HBMEC	blood vessel:	n/a	n/a
18	CTCF	chr9:14616500-14616650	GM12865	blood:	n/a	n/a
19	CTCF	chr9:14616560-14616710	HCM	heart:	n/a	n/a
20	CTCF	chr9:14616500-14616650	HPF	lung:	n/a	n/a
21	CTCF	chr9:14616479-14616640	GM13976	blood:	n/a	n/a
22	CTCF	chr9:14616400-14616550	WI-38	lung:	n/a	n/a
23	CTCF	chr9:14616488-14616665	Gliobla	brain:	n/a	n/a
24	CTCF	chr9:14616500-14616650	AG04450	lung:	n/a	n/a
25	CTCF	chr9:14616540-14616690	GM06990	blood:	n/a	n/a
26	CTCF	chr9:14616520-14616670	GM12878	blood:	n/a	n/a
27	CTCF	chr9:14616480-14616630	NB4	blood:	n/a	n/a
28	CTCF	chr9:14616500-14616650	NHEK	skin:	n/a	n/a
29	CTCF	chr9:14616460-14616610	GM12865	blood:	n/a	n/a
30	CTCF	chr9:14616520-14616670	GM12872	blood:	n/a	n/a
31	CTCF	chr9:14616416-14616717	Spleen_OC	spleen:	n/a	n/a
32	CTCF	chr9:14616439-14616678	Pancreas_OC	pancreas:	n/a	n/a
33	CTCF	chr9:14616442-14616657	LNCaP	prostate:	n/a	n/a
34	CTCF	chr9:14616520-14616670	GM12864	blood:	n/a	n/a
35	CTCF	chr9:14616500-14616650	GM12866	blood:	n/a	n/a
36	CTCF	chr9:14616460-14616653	HepG2	liver:	n/a	n/a
37	CTCF	chr9:14616500-14616650	AG04449	skin:	n/a	n/a
38	CTCF	chr9:14616414-14616701	A549	lung:	n/a	n/a
39	CTCF	chr9:14616480-14616630	HCPEpiC	choroid plexus:	n/a	n/a
40	CTCF	chr9:14616460-14616610	HEEpiC	esophagus:	n/a	n/a
41	CTCF	chr9:14616500-14616650	GM12869	blood:	n/a	n/a
42	CTCF	chr9:14616500-14616650	HCFaa	heart:	n/a	n/a
43	CTCF	chr9:14616500-14616650	GM12867	blood:	n/a	n/a
44	CTCF	chr9:14616480-14616630	BJ	skin:	n/a	n/a
45	CTCF	chr9:14616500-14616650	NHLF	lung:	n/a	n/a
46	CTCF	chr9:14616449-14616696	K562	blood:	n/a	n/a
47	CTCF	chr9:14616391-14616758	HepG2	liver:	n/a	n/a
48	CTCF	chr9:14616500-14616650	GM12870	blood:	n/a	n/a
49	CTCF	chr9:14616520-14616670	Caco-2	colon:	n/a	n/a
50	CTCF	chr9:14616391-14616690	T-47D	breast:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:14616153..14617361-chr9:14660905..14661912,4	MCF-7	breast:
2	chr9:14594819..14596399-chr9:14599180..14601861,2	K562	blood:
3	chr9:14594819..14596399-chr9:14599180..14601861,2	K562	blood:
4	chr9:14607657..14609554-chr9:14615392..14617575,2	K562	blood:
5	chr9:14594419..14596910-chr9:14651251..14653446,2	K562	blood:
6	chr9:14616185..14616937-chr9:14768483..14769168,4	MCF-7	breast:
7	chr9:14607927..14609572-chr9:14611159..14613571,2	MCF-7	breast:
8	chr9:14607657..14609554-chr9:14615392..14617575,2	K562	blood:
9	chr9:14607927..14609572-chr9:14611159..14613571,2	MCF-7	breast:

(count:6 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZDHHC21-1	chr9:14611070-14614754	NONHSAT130252
2	lnc-C9orf146-7	chr9:14588795-14589277	NONHSAT130249
3	lnc-ZDHHC21-2	chr9:14606167-14606546	NONHSAT130251
4	lnc-C9orf146-8	chr9:14593575-14594198	NONHSAT130250
5	lnc-ZDHHC21-2	chr9:14609848-14609996	NONHSAT130251
6	lnc-ZDHHC21-3	chr9:14588795-14590063	ENSG00000272871.1

No data

Variant related genes	Relation type
ENSG00000229029	TF binding region
ENSG00000272871	TF binding region
ENSG00000273399	TF binding region

Extended variants
information (count: 1581 )
Associated
traits (count: 94 )

Variant overlapped rSNPs/rCNVs (count:1581 , 50 per page) page: 1 2 3 4 5 6 7 ... 32

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1047717	chr9:14589173-14589174	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs181825927	chr9:14589180-14589181	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
3	rs576671728	chr9:14589210-14589211	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
4	rs12000057	chr9:14589212-14589213	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs562224438	chr9:14589228-14589229	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
6	rs527922083	chr9:14589291-14589292	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
7	rs541256250	chr9:14589311-14589312	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
8	rs184102044	chr9:14589322-14589323	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
9	rs533421422	chr9:14589328-14589329	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
10	rs556778118	chr9:14589333-14589334	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
11	rs76926137	chr9:14589347-14589348	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
12	rs570034124	chr9:14589358-14589359	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
13	rs529197414	chr9:14589360-14589361	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
14	rs549284746	chr9:14589374-14589375	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
15	rs542630923	chr9:14589414-14589415	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
16	rs112009255	chr9:14589431-14589432	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
17	rs142301647	chr9:14589439-14589440	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
18	rs534857273	chr9:14589442-14589443	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
19	rs557526812	chr9:14589483-14589484	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
20	rs143876657	chr9:14589507-14589508	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
21	rs188832583	chr9:14589523-14589524	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
22	rs62623568	chr9:14589555-14589556	Weak transcription Strong transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs76717426	chr9:14589558-14589559	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
24	rs573610750	chr9:14589560-14589561	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
25	rs542243718	chr9:14589573-14589574	Weak transcription Strong transcription	lncRNA	n/a	Overlapped CNVs	n/a
26	rs200851444	chr9:14589642-14589643	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
27	rs541366891	chr9:14589661-14589662	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
28	rs564837473	chr9:14589688-14589689	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
29	rs10961601	chr9:14589694-14589695	Weak transcription	lncRNA	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs180867604	chr9:14589800-14589801	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
31	rs185127139	chr9:14589832-14589833	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
32	rs564632611	chr9:14589859-14589860	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
33	rs377559524	chr9:14589879-14589880	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
34	rs76530000	chr9:14589900-14589901	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
35	rs543910148	chr9:14589954-14589955	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
36	rs148628189	chr9:14590011-14590012	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
37	rs529320433	chr9:14590026-14590027	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
38	rs549096140	chr9:14590042-14590043	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
39	rs533048661	chr9:14590049-14590050	Weak transcription	lncRNA	n/a	Overlapped CNVs	n/a
40	rs528327813	chr9:14590081-14590082	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs370847807	chr9:14590113-14590114	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs571074017	chr9:14590136-14590137	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs190844234	chr9:14590162-14590163	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs556674018	chr9:14590217-14590218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs375621736	chr9:14590233-14590234	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs563425814	chr9:14590245-14590246	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs567242079	chr9:14590259-14590260	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182277036	chr9:14590281-14590282	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs552649286	chr9:14590298-14590299	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs6474846	chr9:14590321-14590322	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

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
Non-syndromic sensorineural hearing loss	22037309	CNVD
Renal cell carcinoma	21215367	CNVD
Pancreatic cancer	17952125	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:306 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14577400-14597200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr9:14577600-14596200	Weak transcription	Pancreas	Pancrea
3	chr9:14582400-14596200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr9:14585800-14598000	Weak transcription	Right Ventricle	heart
5	chr9:14586000-14592000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr9:14586000-14596200	Weak transcription	Lung	lung
7	chr9:14586000-14597000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr9:14586200-14595200	Weak transcription	Primary B cells from peripheral blood	blood
9	chr9:14586400-14595800	Weak transcription	Brain Germinal Matrix	brain
10	chr9:14586600-14595200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr9:14586800-14593400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr9:14586800-14629800	Weak transcription	Primary T cells from cord blood	blood
13	chr9:14587200-14591600	Weak transcription	GM12878-XiMat	blood
14	chr9:14587400-14595800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr9:14587600-14595600	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr9:14587600-14596200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr9:14587600-14596200	Weak transcription	Left Ventricle	heart
18	chr9:14587600-14599600	Weak transcription	Placenta	Placenta
19	chr9:14587800-14618400	Weak transcription	HUVEC	blood vessel
20	chr9:14588000-14596000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr9:14588200-14591200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr9:14588200-14618800	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr9:14588800-14595800	Weak transcription	Liver	Liver
24	chr9:14588800-14595800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr9:14589000-14589400	Strong transcription	Aorta	Aorta
26	chr9:14589000-14589600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr9:14589000-14596000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr9:14589400-14593600	Weak transcription	Aorta	Aorta
29	chr9:14589600-14594400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:14591800-14593400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr9:14592000-14596200	Weak transcription	Ovary	ovary
32	chr9:14592800-14595200	Weak transcription	Primary B cells from cord blood	blood
33	chr9:14593400-14593600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
34	chr9:14593400-14593800	Enhancers	HepG2	liver
35	chr9:14593400-14594000	ZNF genes & repeats	Fetal Intestine Small	intestine
36	chr9:14593400-14594000	ZNF genes & repeats	Gastric	stomach
37	chr9:14593400-14594000	Strong transcription	Skeletal Muscle Female	skeletal muscle
38	chr9:14593400-14595400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr9:14593600-14593800	Weak transcription	Osteobl	bone
40	chr9:14593600-14594000	ZNF genes & repeats	Aorta	Aorta
41	chr9:14593600-14594000	ZNF genes & repeats	Esophagus	oesophagus
42	chr9:14593800-14594000	ZNF genes & repeats	Osteobl	bone
43	chr9:14593800-14594200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr9:14594000-14595400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr9:14594000-14596200	Weak transcription	Aorta	Aorta
46	chr9:14594000-14596200	Weak transcription	Esophagus	oesophagus
47	chr9:14594000-14596200	Weak transcription	Gastric	stomach
48	chr9:14594000-14596400	Weak transcription	Fetal Intestine Small	intestine
49	chr9:14594000-14599800	Weak transcription	Osteobl	bone
50	chr9:14594200-14608800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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