Variant report

Variant	nsv1020925
Chromosome Location	chr9:27285642-27300318
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:184)
Chromatin interactive
region (count:2)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:27293040-27293190	NHDF-neo	bronchial:	n/a	n/a
2	CTCF	chr9:27292740-27292890	HMF	breast:	n/a	n/a
3	CTCF	chr9:27293000-27293150	AG10803	skin:	n/a	n/a
4	CTCF	chr9:27292800-27292950	NHLF	lung:	n/a	n/a
5	CTCF	chr9:27293020-27293170	SK-N-SH_RA	brain:	n/a	n/a
6	E2F4	chr9:27290395-27290482	MCF10A-Er-Src	breast:	n/a	n/a
7	EP300	chr9:27292689-27293003	SK-N-SH_RA	brain:	n/a	n/a
8	EP300	chr9:27292646-27293080	SK-N-SH_RA	brain:	n/a	chr9:27293023-27293036
9	ESR1	chr9:27297471-27297810	T-47D	breast:	n/a	n/a
10	ESR1	chr9:27297450-27297781	T-47D	breast:	n/a	n/a
11	FOS	chr9:27289215-27289403	MCF10A-Er-Src	breast:	n/a	chr9:27289334-27289344
12	GATA3	chr9:27290880-27291021	SH-SY5Y	brain:	n/a	n/a
13	GATA3	chr9:27292506-27293221	SK-N-SH	brain:	n/a	n/a
14	GATA3	chr9:27297433-27297786	T-47D	breast:	n/a	n/a
15	GATA3	chr9:27297501-27297800	T-47D	breast:	n/a	n/a
16	GATA3	chr9:27291874-27291960	SH-SY5Y	brain:	n/a	n/a
17	IRF1	chr9:27294289-27294590	K562	blood:	n/a	chr9:27294296-27294310 chr9:27294300-27294310
18	MYC	chr9:27296228-27296270	H1-hESC	embryonic stem cell:	n/a	n/a
19	PBX3	chr9:27292628-27293065	SK-N-SH	brain:	n/a	n/a
20	PBX3	chr9:27292648-27293134	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr9:27299941-27300029	ProgFib	skin:	n/a	n/a
22	POLR2A	chr9:27292695-27292930	SK-N-SH	brain:	n/a	n/a
23	POLR2A	chr9:27292612-27293072	SK-N-SH	brain:	n/a	n/a
24	POLR2A	chr9:27292617-27293017	SK-N-MC	brain:	n/a	n/a
25	RAD21	chr9:27292657-27292931	SK-N-SH_RA	brain:	n/a	n/a
26	STAT3	chr9:27294927-27295096	MCF10A-Er-Src	breast:	n/a	n/a
27	STAT3	chr9:27289152-27289341	MCF10A-Er-Src	breast:	n/a	n/a
28	TCF12	chr9:27292418-27293285	SK-N-SH	brain:	n/a	n/a
29	TCF12	chr9:27292397-27293294	SK-N-SH	brain:	n/a	n/a

(count:184 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:27292606-27292656	HIPEpiC	eye:	n/a
2	chr9:27292606-27292656	HIPEpiC	eye:	n/a
3	chr9:27297335-27297385	HepG2	liver:	n/a
4	chr9:27292606-27292656	AG10803	skin:	n/a
5	chr9:27292606-27292656	HNPCEpiC	eye:	n/a
6	chr9:27297089-27297139	GM12891	blood:	n/a
7	chr9:27292606-27292656	HepG2	liver:	n/a
8	chr9:27292606-27292656	PrEC	prostate:	n/a
9	chr9:27297089-27297139	AG10803	skin:	n/a
10	chr9:27292606-27292656	HRCEpiC	kidney:	n/a
11	chr9:27292606-27292656	HCM	heart:	n/a
12	chr9:27292606-27292656	HL-60	blood:	n/a
13	chr9:27297089-27297139	BE2_C	brain:	n/a
14	chr9:27297335-27297385	HEK293	kidney:	embryo
15	chr9:27297335-27297385	HCPEpiC	choroid plexus:	n/a
16	chr9:27297335-27297385	HPAEpiC	pulmonary alveolar:	n/a
17	chr9:27297335-27297385	HRE	kidney:	n/a
18	chr9:27292606-27292656	AG09309	skin:	n/a
19	chr9:27297089-27297139	ECC-1	luminal epithelium:	n/a
20	chr9:27297335-27297385	ProgFib	skin:	n/a
21	chr9:27292606-27292656	ProgFib	skin:	n/a
22	chr9:27292606-27292656	PANC-1	pancreas:	n/a
23	chr9:27297335-27297385	PANC-1	pancreas:	n/a
24	chr9:27297335-27297385	AG09319	gingival:	n/a
25	chr9:27297089-27297139	NB4	blood:	n/a
26	chr9:27297335-27297385	U87	brain:	n/a
27	chr9:27297335-27297385	SAEC	small airway:	n/a
28	chr9:27292606-27292656	A549	lung:	n/a
29	chr9:27297089-27297139	AG04449	skin:	fetal
30	chr9:27297089-27297139	CMK	blood:	n/a
31	chr9:27292606-27292656	NT2-D1	testis:	n/a
32	chr9:27297335-27297385	GM06990	blood:	n/a
33	chr9:27297335-27297385	MCF-7	breast:	n/a
34	chr9:27297335-27297385	HCT-116	colon:	n/a
35	chr9:27297335-27297385	NT2-D1	testis:	n/a
36	chr9:27297089-27297139	AG09319	gingival:	n/a
37	chr9:27297335-27297385	HL-60	blood:	n/a
38	chr9:27292606-27292656	HEK293	kidney:	embryo
39	chr9:27297335-27297385	H1-hESC	embryonic stem cell:	embryo
40	chr9:27292606-27292656	SK-N-SH_RA	brain:	n/a
41	chr9:27297335-27297385	PrEC	prostate:	n/a
42	chr9:27297089-27297139	HIPEpiC	eye:	n/a
43	chr9:27292606-27292656	BE2_C	brain:	n/a
44	chr9:27297335-27297385	Caco-2	colon:	n/a
45	chr9:27297335-27297385	SK-N-SH	brain:	n/a
46	chr9:27297335-27297385	NHDF-neo	bronchial:	n/a
47	chr9:27297089-27297139	MCF10A-Er-Src	breast:	n/a
48	chr9:27297089-27297139	Hela-S3	cervix:	n/a
49	chr9:27297335-27297385	ECC-1	luminal epithelium:	n/a
50	chr9:27297335-27297385	NHBE	bronchial:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:27300012..27302683-chr9:27305254..27307396,2	K562	blood:
2	chr9:27280860..27282970-chr9:27289180..27290823,2	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MOB3B-1	chr9:27296611-27296738	NONHSAT130613
2	lnc-MOB3B-1	chr9:27294314-27294493	NONHSAT130613
3	lnc-MOB3B-1	chr9:27292411-27292485	NONHSAT130613

No data

Variant related genes	Relation type
LINC00032	TF binding region
EQTN	TF binding region
LINC00032	CpG island
EQTN	CpG island
ENSG00000231459	chromatin interactions

Extended variants
information (count: 346 )
Associated
traits (count: 122 )

Variant overlapped rSNPs/rCNVs (count:346 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs116559698	chr9:27289182-27289183	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs547200699	chr9:27289197-27289198	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs371148503	chr9:27289235-27289236	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs571746454	chr9:27289242-27289243	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs10967863	chr9:27289257-27289258	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs557329693	chr9:27289270-27289271	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs568913323	chr9:27289323-27289324	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs142307350	chr9:27289335-27289336	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs74942189	chr9:27289374-27289375	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs191868102	chr9:27289386-27289387	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs78664352	chr9:27289399-27289400	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs553177805	chr9:27289417-27289418	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs577724924	chr9:27289439-27289440	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs563695992	chr9:27289440-27289441	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs547100158	chr9:27289459-27289460	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs112581334	chr9:27289501-27289502	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs530539438	chr9:27289512-27289513	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs3739538	chr9:27289536-27289537	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs386733908	chr9:27289545-27289546	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs182494380	chr9:27289546-27289547	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs554725081	chr9:27289549-27289550	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs143185462	chr9:27289579-27289580	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs571173833	chr9:27289592-27289593	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs571819638	chr9:27289594-27289595	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs532550203	chr9:27289602-27289603	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs10114045	chr9:27289611-27289612	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs371630229	chr9:27289619-27289620	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs374239782	chr9:27289622-27289623	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs377383408	chr9:27289625-27289626	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs536533352	chr9:27289634-27289635	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs370549234	chr9:27289639-27289640	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs375315554	chr9:27289650-27289651	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs554570569	chr9:27289666-27289667	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs187485851	chr9:27289685-27289686	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs137984899	chr9:27289700-27289701	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs367578113	chr9:27289701-27289702	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs534342710	chr9:27289715-27289716	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs143541625	chr9:27289730-27289731	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs558735779	chr9:27289732-27289733	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs200922368	chr9:27289739-27289740	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs544842895	chr9:27289763-27289764	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs1980661	chr9:27289812-27289813	Inactive region	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs575640951	chr9:27289815-27289816	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs114864861	chr9:27289819-27289820	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs1980660	chr9:27289832-27289833	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs369823902	chr9:27289836-27289837	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs192858288	chr9:27289843-27289844	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs540324269	chr9:27289848-27289849	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs374636857	chr9:27289863-27289864	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs532753288	chr9:27289891-27289892	Inactive region	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:122)

Disease	PMID	Source
Breast cancer	16608533	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Breast cancer	16272173	CNVD
Medulloblastoma	21979893	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
Oral squamous cell carcinoma	17134496	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
Chronic lymphocytic leukemia	21546498	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
microdeletion syndrome	16199537	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Cancer	20164919	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
lymphocytic leukemia	21291569	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21785460	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	21668985	CNVD
Myelodysplastic syndrome	21251322	CNVD
Autism	22495311	CNVD
Hepatocellular carcinoma	18803288	CNVD
Metanephric adenoma	20802469	CNVD
Developmental delay	21147756	CNVD
Pilocytic astrocytoma	18670637	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Melanoma	22183965	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Non-small cell lung cancer	19010865	CNVD
Myoepithelioma	18604193	CNVD
Acute myeloid leukemia	19651601	CNVD
Coronary Disease	20032323	CNVD
Squamous cell cancer	20885788	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21732550	CNVD
Gastric cancer	22539939	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Metastatic melanoma	18483359	CNVD
Non-small cell lung cancer	20864512	CNVD
Cervical cancer	21062161	CNVD
Acute myeloid leukemia	16864856	CNVD
Glioblastoma	17090523	CNVD
Lung cancer	16773561	CNVD
Adenoid cystic carcinoma	17372589	CNVD
Colorectal cancer	16774939	CNVD
Bladder cancer	19088036	CNVD
Colorectal cancer	16272173	CNVD
Melanoma	16977458	CNVD
Glioblastoma multiforme	17369134	CNVD
Chagasic megaesophagus	20163722	CNVD
Melanoma	19566914	CNVD
Squamous cell cancer	19047905	CNVD
Lung adenocarcinoma	19525976	CNVD
Lung cancer	19525976	CNVD
Malignant mesothelioma	18160781	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Hodgkin''s lymphoma	18179710	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Acute myeloid leukemia	21251322	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21858162	CNVD
Pancreatic cancer	21811587	CNVD
Barrett''s syndrome	19417022	CNVD
Myelofibrosis	22110671	CNVD
Urothelial cell carcinoma	18451213	CNVD
polycythaemia	22829968	CNVD
Neuroblastoma	21899760	CNVD
Breast cancer	21364760	CNVD
Glioblastoma multiforme	21525872	CNVD
Epilepsy	22083797	CNVD
Cancer	22183965	CNVD
Acute lymphoblastic leukemia	18458336	CNVD
Breast cancer	22522925	CNVD
Autism	20858261	CNVD
Epilepsy	20858261	CNVD
Mental retardation	20858261	CNVD

Chromatin state (count:18 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:27292000-27292600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr9:27292600-27293000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr9:27292800-27293000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr9:27293000-27293200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr9:27293000-27293600	Enhancers	Fetal Muscle Leg	muscle
6	chr9:27293000-27294400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr9:27293200-27293400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr9:27293400-27293600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr9:27293400-27294200	Enhancers	Adipose Nuclei	Adipose
10	chr9:27293600-27294200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr9:27294400-27294600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:27297400-27297800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr9:27297400-27297800	Enhancers	Breast Myoepithelial Primary Cells	Breast
14	chr9:27297400-27297800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr9:27297800-27302400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr9:27297800-27303200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr9:27300000-27300200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr9:27300200-27303000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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