Variant report

Variant	nsv613640
Chromosome Location	chr9:14590805-14616590
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:256)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:4)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:256 , 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	chr9:14616366-14616729	K562	blood:	n/a	n/a
2	ARID3A	chr9:14616384-14616695	HepG2	liver:	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	CHD2	chr9:14616421-14616609	GM12878	blood:	n/a	n/a
8	CTCF	chr9:14616500-14616650	GM12865	blood:	n/a	n/a
9	CTCF	chr9:14616440-14616590	K562	blood:	n/a	n/a
10	CTCF	chr9:14616366-14616700	ECC-1	luminal epithelium:	n/a	n/a
11	CTCF	chr9:14616460-14616610	GM12864	blood:	n/a	n/a
12	CTCF	chr9:14616500-14616650	HPF	lung:	n/a	n/a
13	CTCF	chr9:14616482-14616660	HepG2	liver:	n/a	n/a
14	CTCF	chr9:14616414-14616703	Medullo	brain:	n/a	n/a
15	CTCF	chr9:14616460-14616696	A549	lung:	n/a	n/a
16	CTCF	chr9:14616460-14616610	Hela-S3	cervix:	n/a	n/a
17	CTCF	chr9:14616520-14616670	K562	blood:	n/a	n/a
18	CTCF	chr9:14616460-14616653	HepG2	liver:	n/a	n/a
19	CTCF	chr9:14616500-14616650	BJ	skin:	n/a	n/a
20	CTCF	chr9:14616500-14616650	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr9:14616500-14616650	HPAF	blood vessel:	n/a	n/a
22	CTCF	chr9:14616540-14616690	A549	lung:	n/a	n/a
23	CTCF	chr9:14616420-14616570	HCT-116	colon:	n/a	n/a
24	CTCF	chr9:14616520-14616670	HepG2	liver:	n/a	n/a
25	CTCF	chr9:14616442-14616684	MCF-7	breast:	n/a	n/a
26	CTCF	chr9:14616520-14616670	GM12873	blood:	n/a	n/a
27	CTCF	chr9:14616500-14616650	SAEC	small airway:	n/a	n/a
28	CTCF	chr9:14616520-14616670	GM12875	blood:	n/a	n/a
29	CTCF	chr9:14616480-14616630	HPF	lung:	n/a	n/a
30	CTCF	chr9:14616431-14616691	HUVEC	blood vessel:	n/a	n/a
31	CTCF	chr9:14616480-14616630	HEK293	kidney:	n/a	n/a
32	CTCF	chr9:14616233-14617036	A549	lung:	n/a	n/a
33	CTCF	chr9:14616440-14616590	HUVEC	blood vessel:	n/a	n/a
34	CTCF	chr9:14616485-14616644	GM20000	blood:	n/a	n/a
35	CTCF	chr9:14616516-14616637	ProgFib	skin:	n/a	n/a
36	CTCF	chr9:14616520-14616670	A549	lung:	n/a	n/a
37	CTCF	chr9:14616500-14616650	HRPEpiC	eye:	n/a	n/a
38	CTCF	chr9:14616462-14616676	Lung_OC	lung:	n/a	n/a
39	CTCF	chr9:14616460-14616610	GM12865	blood:	n/a	n/a
40	CTCF	chr9:14616454-14616672	GM10266	blood:	n/a	n/a
41	CTCF	chr9:14616460-14616610	GM12801	blood:	n/a	n/a
42	CTCF	chr9:14616433-14616618	SK-N-SH_RA	brain:	n/a	n/a
43	CTCF	chr9:14616460-14616610	SAEC	small airway:	n/a	n/a
44	CTCF	chr9:14616500-14616650	NHEK	skin:	n/a	n/a
45	CTCF	chr9:14616480-14616630	GM12873	blood:	n/a	n/a
46	CTCF	chr9:14616400-14616550	HA-sp	spinal cord:	n/a	n/a
47	CTCF	chr9:14616479-14616640	GM13976	blood:	n/a	n/a
48	CTCF	chr9:14616540-14616690	HBMEC	blood vessel:	n/a	n/a
49	CTCF	chr9:14616449-14616696	K562	blood:	n/a	n/a
50	CTCF	chr9:14616500-14616650	NHLF	lung:	n/a	n/a

No data

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

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

(count:4 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf146-8	chr9:14593575-14594198	NONHSAT130250
2	lnc-ZDHHC21-1	chr9:14611070-14614754	NONHSAT130252
3	lnc-ZDHHC21-2	chr9:14606167-14606546	NONHSAT130251
4	lnc-ZDHHC21-2	chr9:14609848-14609996	NONHSAT130251

No data

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

Extended variants
information (count: 1251 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:1251 , 50 per page) page: 1 2 3 4 5 6 7 ... 26

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs7857143	chr9:14590805-14590806	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs551377920	chr9:14590828-14590829	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs551232208	chr9:14590864-14590865	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs558848725	chr9:14590883-14590884	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs142124584	chr9:14590913-14590914	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs150660845	chr9:14590926-14590927	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs372464169	chr9:14590932-14590933	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs7032825	chr9:14591027-14591028	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
9	rs566288865	chr9:14591035-14591036	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs140958321	chr9:14591043-14591044	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs535929871	chr9:14591051-14591052	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs546593985	chr9:14591054-14591055	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs187326606	chr9:14591055-14591056	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs536824389	chr9:14591057-14591058	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs538618555	chr9:14591074-14591075	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs558521680	chr9:14591093-14591094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs578247282	chr9:14591103-14591104	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs112896970	chr9:14591109-14591110	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs367584057	chr9:14591119-14591120	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs537686213	chr9:14591121-14591122	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs557224896	chr9:14591148-14591149	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs144918417	chr9:14591211-14591212	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
23	rs147975894	chr9:14591213-14591214	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
24	rs563029572	chr9:14591260-14591261	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
25	rs117751088	chr9:14591262-14591263	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
26	rs575088883	chr9:14591273-14591274	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
27	rs572928633	chr9:14591284-14591285	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
28	rs544994040	chr9:14591292-14591293	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
29	rs191781714	chr9:14591325-14591326	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
30	rs530670936	chr9:14591326-14591327	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
31	rs550761869	chr9:14591344-14591345	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs536378567	chr9:14591348-14591349	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs560888711	chr9:14591363-14591364	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs529821203	chr9:14591374-14591375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs546407753	chr9:14591389-14591390	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs566549491	chr9:14591392-14591393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs183035255	chr9:14591424-14591425	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs141863642	chr9:14591431-14591432	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs55670981	chr9:14591432-14591433	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs149973045	chr9:14591445-14591446	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
41	rs578204084	chr9:14591489-14591490	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
42	rs375549583	chr9:14591515-14591516	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
43	rs557544998	chr9:14591518-14591519	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
44	rs187015011	chr9:14591538-14591539	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
45	rs536832459	chr9:14591552-14591553	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
46	rs75663007	chr9:14591563-14591564	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
47	rs189934268	chr9:14591654-14591655	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
48	rs545006464	chr9:14591667-14591668	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
49	rs527270782	chr9:14591668-14591669	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a
50	rs558483284	chr9:14591687-14591688	Weak transcription	TF binding region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:91)

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

Chromatin state (count:217 , 50 per page) page: 1 2 3 4 5

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	chr9:14589000-14596000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr9:14589400-14593600	Weak transcription	Aorta	Aorta
27	chr9:14589600-14594400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr9:14591800-14593400	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr9:14592000-14596200	Weak transcription	Ovary	ovary
30	chr9:14592800-14595200	Weak transcription	Primary B cells from cord blood	blood
31	chr9:14593400-14593600	ZNF genes & repeats	Cortex derived primary cultured neurospheres	brain
32	chr9:14593400-14593800	Enhancers	HepG2	liver
33	chr9:14593400-14594000	ZNF genes & repeats	Fetal Intestine Small	intestine
34	chr9:14593400-14594000	ZNF genes & repeats	Gastric	stomach
35	chr9:14593400-14594000	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr9:14593400-14595400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr9:14593600-14593800	Weak transcription	Osteobl	bone
38	chr9:14593600-14594000	ZNF genes & repeats	Aorta	Aorta
39	chr9:14593600-14594000	ZNF genes & repeats	Esophagus	oesophagus
40	chr9:14593800-14594000	ZNF genes & repeats	Osteobl	bone
41	chr9:14593800-14594200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr9:14594000-14595400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr9:14594000-14596200	Weak transcription	Aorta	Aorta
44	chr9:14594000-14596200	Weak transcription	Esophagus	oesophagus
45	chr9:14594000-14596200	Weak transcription	Gastric	stomach
46	chr9:14594000-14596400	Weak transcription	Fetal Intestine Small	intestine
47	chr9:14594000-14599800	Weak transcription	Osteobl	bone
48	chr9:14594200-14608800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr9:14594400-14596200	Weak transcription	Fetal Stomach	stomach
50	chr9:14594400-14596600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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