Variant report

Variant	nsv892857
Chromosome Location	chr9:26593785-26633841
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:193)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:193 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr9:26613860-26614010	HCM	heart:	n/a	n/a
2	CTCF	chr9:26613956-26614209	GM12878	blood:	n/a	n/a
3	CTCF	chr9:26613880-26614030	AG10803	skin:	n/a	n/a
4	CTCF	chr9:26614100-26614250	HMF	breast:	n/a	n/a
5	CTCF	chr9:26613880-26614030	HA-sp	spinal cord:	n/a	n/a
6	CTCF	chr9:26613952-26614170	MCF-7	breast:	n/a	n/a
7	CTCF	chr9:26613274-26613347	GM10266	blood:	n/a	n/a
8	CTCF	chr9:26613975-26614118	NHEK	skin:	n/a	n/a
9	CTCF	chr9:26614140-26614290	HCM	heart:	n/a	n/a
10	CTCF	chr9:26613721-26614329	A549	lung:	n/a	n/a
11	CTCF	chr9:26613880-26614030	AG04449	skin:	n/a	n/a
12	CTCF	chr9:26613959-26614202	K562	blood:	n/a	n/a
13	CTCF	chr9:26613860-26614010	GM12872	blood:	n/a	n/a
14	CTCF	chr9:26632400-26632550	GM12866	blood:	n/a	chr9:26632476-26632485
15	CTCF	chr9:26613873-26614179	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr9:26613895-26614175	H1-hESC	embryonic stem cell:	n/a	n/a
17	CTCF	chr9:26613860-26614010	WI-38	lung:	n/a	n/a
18	CTCF	chr9:26613800-26613950	RPTEC	kidney:	n/a	n/a
19	CTCF	chr9:26614260-26614410	GM12875	blood:	n/a	n/a
20	CTCF	chr9:26613862-26614087	A549	lung:	n/a	n/a
21	CTCF	chr9:26613975-26614141	MCF-7	breast:	n/a	n/a
22	CTCF	chr9:26613880-26614030	BJ	skin:	n/a	n/a
23	CTCF	chr9:26613880-26614030	WERI-Rb-1	eye:	n/a	n/a
24	CTCF	chr9:26613880-26614030	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr9:26632451-26632519	H1-hESC	embryonic stem cell:	n/a	chr9:26632476-26632485
26	CTCF	chr9:26613880-26614030	GM12869	blood:	n/a	n/a
27	CTCF	chr9:26614100-26614250	GM12864	blood:	n/a	n/a
28	CTCF	chr9:26614140-26614290	GM12873	blood:	n/a	n/a
29	CTCF	chr9:26614080-26614230	NHEK	skin:	n/a	n/a
30	CTCF	chr9:26613984-26614121	GM10266	blood:	n/a	n/a
31	CTCF	chr9:26613860-26614010	GM12875	blood:	n/a	n/a
32	CTCF	chr9:26613762-26614273	K562	blood:	n/a	n/a
33	CTCF	chr9:26613860-26614010	GM12868	blood:	n/a	n/a
34	CTCF	chr9:26613900-26614050	GM12866	blood:	n/a	n/a
35	CTCF	chr9:26613924-26614163	K562	blood:	n/a	n/a
36	CTCF	chr9:26614140-26614290	HEEpiC	esophagus:	n/a	n/a
37	CTCF	chr9:26613782-26613874	GM10266	blood:	n/a	n/a
38	CTCF	chr9:26614120-26614270	HRPEpiC	eye:	n/a	n/a
39	CTCF	chr9:26613880-26614030	HFF	foreskin:	n/a	n/a
40	CTCF	chr9:26613880-26614030	HFF-Myc	foreskin:	n/a	n/a
41	CTCF	chr9:26613874-26613941	Kidney_OC	kidney:	n/a	n/a
42	CTCF	chr9:26613880-26614030	HCT-116	colon:	n/a	n/a
43	CTCF	chr9:26613860-26614010	HRE	kidney:	n/a	n/a
44	CTCF	chr9:26613966-26614145	GM19239	blood:	n/a	n/a
45	CTCF	chr9:26613880-26614030	A549	lung:	n/a	n/a
46	CTCF	chr9:26613954-26614130	Hela-S3	cervix:	n/a	n/a
47	CTCF	chr9:26613880-26614030	HVMF	connective:	n/a	n/a
48	CTCF	chr9:26613880-26614030	WI-38	lung:	n/a	n/a
49	CTCF	chr9:26613949-26614147	ProgFib	skin:	n/a	n/a
50	CTCF	chr9:26613880-26614030	HEK293	kidney:	n/a	n/a

No data

Variant related genes	Relation type
ENSG00000266429	TF binding region

Extended variants
information (count: 929 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:929 , 50 per page) page: 1 2 3 4 5 6 7 ... 19

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs114143199	chr9:26597014-26597015	Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs5897206	chr9:26597046-26597047	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs182106262	chr9:26597053-26597054	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs548103847	chr9:26597061-26597062	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs559776130	chr9:26597079-26597080	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs533616423	chr9:26597100-26597101	Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs143248172	chr9:26597160-26597161	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535613328	chr9:26597165-26597166	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs372695589	chr9:26597166-26597167	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs570573436	chr9:26597175-26597176	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs533891673	chr9:26597218-26597219	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs537910635	chr9:26597221-26597222	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs563806575	chr9:26597223-26597224	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs186944266	chr9:26597231-26597232	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553007178	chr9:26597241-26597242	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs551856658	chr9:26597280-26597281	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs145472834	chr9:26597312-26597313	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs191164376	chr9:26597347-26597348	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs554082269	chr9:26597348-26597349	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs565826750	chr9:26597419-26597420	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs11794467	chr9:26597427-26597428	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs201836009	chr9:26597454-26597455	Enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs374991556	chr9:26597455-26597456	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs557482180	chr9:26597463-26597464	Enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs3063509	chr9:26597483-26597484	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs183378543	chr9:26597489-26597490	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs541448921	chr9:26597511-26597512	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs148814572	chr9:26597530-26597531	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs17692544	chr9:26597540-26597541	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
30	rs575507840	chr9:26597579-26597580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs188313693	chr9:26597589-26597590	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs541066572	chr9:26597610-26597611	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs560037694	chr9:26597625-26597626	Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs533628400	chr9:26597644-26597645	Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs10967428	chr9:26597679-26597680	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs193035980	chr9:26597692-26597693	Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143607372	chr9:26597780-26597781	Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs148048063	chr9:26597790-26597791	Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs549873225	chr9:26597811-26597812	Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs568056816	chr9:26597863-26597864	Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs184403367	chr9:26597868-26597869	Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs142271109	chr9:26597871-26597872	Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs114739015	chr9:26597874-26597875	Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs565639219	chr9:26597905-26597906	Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs536796681	chr9:26597911-26597912	Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs146027714	chr9:26597923-26597924	Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555110080	chr9:26597986-26597987	Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs557548767	chr9:26597993-26597994	Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs569551199	chr9:26598041-26598042	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs536829802	chr9:26598043-26598044	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:117)

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
early-passage human iPS cells	21368824	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26597000-26598000	Enhancers	Brain Germinal Matrix	brain
2	chr9:26597000-26598400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr9:26597000-26598800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr9:26597600-26598000	Enhancers	Fetal Lung	lung
5	chr9:26597600-26598200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr9:26598000-26603200	Weak transcription	Fetal Lung	lung
7	chr9:26598000-26604200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:26598200-26599800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr9:26598800-26602800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr9:26599800-26600600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr9:26600600-26602800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr9:26600800-26603600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr9:26602600-26603000	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr9:26602600-26604800	Enhancers	iPS-15b Cell Line	embryonic stem cell
15	chr9:26602800-26604400	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr9:26602800-26604600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:26602800-26604600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr9:26603000-26603200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr9:26603000-26603800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr9:26603000-26604200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr9:26603000-26604600	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr9:26603000-26604600	Enhancers	H9 Cell Line	embryonic stem cell
23	chr9:26603000-26604600	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr9:26603000-26604600	Enhancers	iPS-18 Cell Line	embryonic stem cell
25	chr9:26603000-26604600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr9:26603200-26603600	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr9:26603200-26604000	Enhancers	Fetal Lung	lung
28	chr9:26603200-26604200	Enhancers	Fetal Brain Female	brain
29	chr9:26603200-26604600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr9:26603200-26604600	Enhancers	HUES64 Cell Line	embryonic stem cell
31	chr9:26603200-26605400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr9:26603400-26604600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr9:26603600-26603800	Enhancers	Fetal Muscle Leg	muscle
34	chr9:26603600-26604000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr9:26603600-26604600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr9:26603800-26604200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr9:26603800-26604600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr9:26604000-26605200	Weak transcription	Fetal Muscle Leg	muscle
39	chr9:26604000-26605400	Weak transcription	Fetal Lung	lung
40	chr9:26604200-26604600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr9:26604600-26607200	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr9:26604600-26607400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr9:26604600-26608200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr9:26604800-26607000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr9:26605200-26606400	Enhancers	Fetal Muscle Leg	muscle
46	chr9:26605400-26605800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr9:26605400-26607800	Enhancers	Fetal Lung	lung
48	chr9:26605800-26606200	Active TSS	Fetal Brain Male	brain
49	chr9:26606400-26607400	Weak transcription	Fetal Muscle Leg	muscle
50	chr9:26607000-26607200	Enhancers	iPS-15b Cell Line	embryonic stem cell

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