Variant report

Variant	nsv6508
Chromosome Location	chr9:26602437-26647117
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:238)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:238 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF2	chr9:26637055-26637518	H1-hESC	embryonic stem cell:	n/a	n/a
2	ATF2	chr9:26637101-26637510	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr9:26637102-26637435	H1-hESC	embryonic stem cell:	n/a	chr9:26637215-26637228
4	CHD2	chr9:26637151-26637458	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr9:26613560-26613710	GM12870	blood:	n/a	n/a
6	CTCF	chr9:26613932-26613935	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr9:26614100-26614250	GM12866	blood:	n/a	n/a
8	CTCF	chr9:26613862-26614087	A549	lung:	n/a	n/a
9	CTCF	chr9:26613880-26614030	HCFaa	heart:	n/a	n/a
10	CTCF	chr9:26613900-26614050	HEEpiC	esophagus:	n/a	n/a
11	CTCF	chr9:26613984-26614121	GM10266	blood:	n/a	n/a
12	CTCF	chr9:26613860-26614010	HMF	breast:	n/a	n/a
13	CTCF	chr9:26613860-26614010	AG04450	lung:	n/a	n/a
14	CTCF	chr9:26613880-26614030	HFF	foreskin:	n/a	n/a
15	CTCF	chr9:26613860-26614010	WI-38	lung:	n/a	n/a
16	CTCF	chr9:26613936-26614172	LNCaP	prostate:	n/a	n/a
17	CTCF	chr9:26632400-26632550	BE2_C	brain:	n/a	chr9:26632476-26632485
18	CTCF	chr9:26613989-26614111	GM13976	blood:	n/a	n/a
19	CTCF	chr9:26613721-26614329	A549	lung:	n/a	n/a
20	CTCF	chr9:26613948-26614201	IMR90	lung:	n/a	n/a
21	CTCF	chr9:26613880-26614030	AoAF	blood vessel:	n/a	n/a
22	CTCF	chr9:26613959-26614202	K562	blood:	n/a	n/a
23	CTCF	chr9:26613840-26613990	BE2_C	brain:	n/a	n/a
24	CTCF	chr9:26641760-26641910	GM12864	blood:	n/a	n/a
25	CTCF	chr9:26613860-26614010	GM12875	blood:	n/a	n/a
26	CTCF	chr9:26613949-26614147	ProgFib	skin:	n/a	n/a
27	CTCF	chr9:26641802-26641923	A549	lung:	n/a	n/a
28	CTCF	chr9:26613860-26614010	SK-N-SH_RA	brain:	n/a	n/a
29	CTCF	chr9:26614100-26614250	HMF	breast:	n/a	n/a
30	CTCF	chr9:26614140-26614290	GM12865	blood:	n/a	n/a
31	CTCF	chr9:26613860-26614010	HRE	kidney:	n/a	n/a
32	CTCF	chr9:26613880-26614030	AG04449	skin:	n/a	n/a
33	CTCF	chr9:26613860-26614010	HEEpiC	esophagus:	n/a	n/a
34	CTCF	chr9:26613762-26614273	K562	blood:	n/a	n/a
35	CTCF	chr9:26614140-26614290	HCT-116	colon:	n/a	n/a
36	CTCF	chr9:26613874-26613941	Kidney_OC	kidney:	n/a	n/a
37	CTCF	chr9:26613978-26614119	GM13977	blood:	n/a	n/a
38	CTCF	chr9:26613820-26613970	GM12866	blood:	n/a	n/a
39	CTCF	chr9:26613880-26614030	WI-38	lung:	n/a	n/a
40	CTCF	chr9:26613860-26614010	HCM	heart:	n/a	n/a
41	CTCF	chr9:26632451-26632519	H1-hESC	embryonic stem cell:	n/a	chr9:26632476-26632485
42	CTCF	chr9:26613900-26614050	HRPEpiC	eye:	n/a	n/a
43	CTCF	chr9:26641807-26641921	MCF-7	breast:	n/a	n/a
44	CTCF	chr9:26613921-26614162	GM19238	blood:	n/a	n/a
45	CTCF	chr9:26613929-26614158	GM12892	blood:	n/a	n/a
46	CTCF	chr9:26613873-26614179	H1-hESC	embryonic stem cell:	n/a	n/a
47	CTCF	chr9:26641812-26641920	MCF-7	breast:	n/a	n/a
48	CTCF	chr9:26613910-26614183	A549	lung:	n/a	n/a
49	CTCF	chr9:26614140-26614290	HPAF	blood vessel:	n/a	n/a
50	CTCF	chr9:26614140-26614290	HEEpiC	esophagus:	n/a	n/a

No data

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C9orf82-3	chr9:26642695-26644593	NONHSAT130585

No data

Variant related genes	Relation type
ENSG00000266429	TF binding region

Extended variants
information (count: 961 )
Associated
traits (count: 117 )

Variant overlapped rSNPs/rCNVs (count:961 , 50 per page) page: 1 2 3 4 5 6 7 ... 20

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs11794299	chr9:26602496-26602497	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs568110145	chr9:26602542-26602543	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs539259101	chr9:26602589-26602590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs551241158	chr9:26602610-26602611	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs529203719	chr9:26602670-26602671	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs368560261	chr9:26602674-26602675	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs144335831	chr9:26602678-26602679	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs555816712	chr9:26602703-26602704	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573980743	chr9:26602757-26602758	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs571655402	chr9:26602807-26602808	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs191821096	chr9:26602878-26602879	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs539782629	chr9:26602881-26602882	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs578240530	chr9:26602887-26602888	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs148439821	chr9:26602903-26602904	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs142553234	chr9:26602908-26602909	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs184515098	chr9:26602937-26602938	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs543180081	chr9:26602942-26602943	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs561818230	chr9:26602952-26602953	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs189172995	chr9:26602953-26602954	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs12337629	chr9:26602954-26602955	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
21	rs372861235	chr9:26602963-26602964	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs566660134	chr9:26603003-26603004	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs112903699	chr9:26603020-26603021	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs566113651	chr9:26603037-26603038	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs533705277	chr9:26603056-26603057	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
26	rs555455038	chr9:26603070-26603071	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs533030553	chr9:26603182-26603183	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs551570109	chr9:26603189-26603190	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs569786715	chr9:26603208-26603209	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs537230934	chr9:26603215-26603216	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs181871828	chr9:26603240-26603241	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs913161	chr9:26603243-26603244	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
33	rs535029138	chr9:26603351-26603352	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs73642974	chr9:26603363-26603364	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs543880447	chr9:26603369-26603370	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs534991972	chr9:26603387-26603388	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs557609306	chr9:26603402-26603403	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs12236675	chr9:26603455-26603456	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs7031975	chr9:26603474-26603475	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs187234652	chr9:26603488-26603489	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs374945749	chr9:26603521-26603522	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs147569105	chr9:26603563-26603564	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs558889445	chr9:26603617-26603618	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs547733596	chr9:26603621-26603622	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs532752572	chr9:26603637-26603638	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs140266413	chr9:26603654-26603655	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs144530576	chr9:26603682-26603683	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs530659834	chr9:26603690-26603691	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs118043552	chr9:26603735-26603736	Enhancers Weak transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs567767354	chr9:26603742-26603743	Enhancers Weak transcription Flanking Active TSS	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:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:26598000-26603200	Weak transcription	Fetal Lung	lung
2	chr9:26598000-26604200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr9:26598800-26602800	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr9:26600600-26602800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr9:26600800-26603600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr9:26602600-26603000	Enhancers	iPS-20b Cell Line	embryonic stem cell
7	chr9:26602600-26604800	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr9:26602800-26604400	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr9:26602800-26604600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr9:26602800-26604600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr9:26603000-26603200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
12	chr9:26603000-26603800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr9:26603000-26604200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:26603000-26604600	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr9:26603000-26604600	Enhancers	H9 Cell Line	embryonic stem cell
16	chr9:26603000-26604600	Enhancers	HUES6 Cell Line	embryonic stem cell
17	chr9:26603000-26604600	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr9:26603000-26604600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr9:26603200-26603600	Enhancers	iPS-20b Cell Line	embryonic stem cell
20	chr9:26603200-26604000	Enhancers	Fetal Lung	lung
21	chr9:26603200-26604200	Enhancers	Fetal Brain Female	brain
22	chr9:26603200-26604600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
23	chr9:26603200-26604600	Enhancers	HUES64 Cell Line	embryonic stem cell
24	chr9:26603200-26605400	Enhancers	H1 Cell Line	embryonic stem cell
25	chr9:26603400-26604600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr9:26603600-26603800	Enhancers	Fetal Muscle Leg	muscle
27	chr9:26603600-26604000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr9:26603600-26604600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr9:26603800-26604200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr9:26603800-26604600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr9:26604000-26605200	Weak transcription	Fetal Muscle Leg	muscle
32	chr9:26604000-26605400	Weak transcription	Fetal Lung	lung
33	chr9:26604200-26604600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr9:26604600-26607200	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr9:26604600-26607400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr9:26604600-26608200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr9:26604800-26607000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr9:26605200-26606400	Enhancers	Fetal Muscle Leg	muscle
39	chr9:26605400-26605800	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr9:26605400-26607800	Enhancers	Fetal Lung	lung
41	chr9:26605800-26606200	Active TSS	Fetal Brain Male	brain
42	chr9:26606400-26607400	Weak transcription	Fetal Muscle Leg	muscle
43	chr9:26607000-26607200	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr9:26607200-26607600	Enhancers	H9 Cell Line	embryonic stem cell
45	chr9:26607400-26607600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr9:26607600-26607800	Enhancers	Fetal Muscle Leg	muscle
47	chr9:26608200-26608800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr9:26613800-26614000	Enhancers	Lung	lung
49	chr9:26614800-26615400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr9:26615200-26615800	Enhancers	ES-I3 Cell Line	embryonic stem cell

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