Variant report

Variant	nsv1041288
Chromosome Location	chr14:39021522-39096964
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:409)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:409 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr14:39074579-39075360	HepG2	liver:	n/a	n/a
2	BACH1	chr14:39047510-39047825	H1-hESC	embryonic stem cell:	n/a	n/a
3	CEBPB	chr14:39074857-39075368	HepG2	liver:	n/a	n/a
4	CEBPB	chr14:39075104-39075339	HepG2	liver:	n/a	n/a
5	CEBPB	chr14:39095711-39096045	HepG2	liver:	n/a	n/a
6	CEBPB	chr14:39095780-39095980	Hela-S3	cervix:	n/a	n/a
7	CEBPB	chr14:39089539-39089542	HepG2	liver:	n/a	n/a
8	CEBPB	chr14:39095716-39096026	IMR90	lung:	n/a	n/a
9	CEBPB	chr14:39060274-39060299	HepG2	liver:	n/a	chr14:39060283-39060294
10	CEBPZ	chr14:39075696-39075760	HepG2	liver:	n/a	n/a
11	CHD2	chr14:39077696-39077728	HepG2	liver:	n/a	n/a
12	CTCF	chr14:39069900-39070050	AG09309	skin:	n/a	n/a
13	CTCF	chr14:39087880-39088030	GM12875	blood:	n/a	n/a
14	CTCF	chr14:39087800-39087950	HAc	cerebellar:	n/a	n/a
15	CTCF	chr14:39074704-39074904	MCF-7	breast:	n/a	chr14:39074777-39074798
16	CTCF	chr14:39087800-39087950	GM12874	blood:	n/a	n/a
17	CTCF	chr14:39087860-39088010	GM12871	blood:	n/a	n/a
18	CTCF	chr14:39069900-39070050	HBMEC	blood vessel:	n/a	n/a
19	CTCF	chr14:39069708-39070216	MCF-7	breast:	n/a	n/a
20	CTCF	chr14:39074722-39074853	LNCaP	prostate:	n/a	chr14:39074777-39074798
21	CTCF	chr14:39074680-39074830	HRPEpiC	eye:	n/a	chr14:39074777-39074798
22	CTCF	chr14:39087840-39087990	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr14:39074640-39074790	GM12873	blood:	n/a	n/a
24	CTCF	chr14:39074660-39074810	HPF	lung:	n/a	chr14:39074777-39074798
25	CTCF	chr14:39087800-39087950	GM12865	blood:	n/a	n/a
26	CTCF	chr14:39069884-39070046	LNCaP	prostate:	n/a	n/a
27	CTCF	chr14:39074580-39074730	NHDF-neo	bronchial:	n/a	n/a
28	CTCF	chr14:39069900-39070050	HMF	breast:	n/a	n/a
29	CTCF	chr14:39069893-39070082	LNCaP	prostate:	n/a	n/a
30	CTCF	chr14:39069880-39070030	BE2_C	brain:	n/a	n/a
31	CTCF	chr14:39087880-39088030	GM06990	blood:	n/a	n/a
32	CTCF	chr14:39069940-39070090	NHLF	lung:	n/a	n/a
33	CTCF	chr14:39087810-39087991	HUVEC	blood vessel:	n/a	n/a
34	CTCF	chr14:39074700-39074850	GM12872	blood:	n/a	chr14:39074777-39074798
35	CTCF	chr14:39087800-39087950	GM12864	blood:	n/a	n/a
36	CTCF	chr14:39089150-39089209	GM13976	blood:	n/a	n/a
37	CTCF	chr14:39087880-39088030	GM12873	blood:	n/a	n/a
38	CTCF	chr14:39087820-39087970	GM12870	blood:	n/a	n/a
39	CTCF	chr14:39087840-39087990	BE2_C	brain:	n/a	n/a
40	CTCF	chr14:39087760-39087910	HFF-Myc	foreskin:	n/a	n/a
41	CTCF	chr14:39069900-39070050	HPAF	blood vessel:	n/a	n/a
42	CTCF	chr14:39091600-39091674	Hela-S3	cervix:	n/a	n/a
43	CTCF	chr14:39087780-39087930	AG04449	skin:	n/a	n/a
44	CTCF	chr14:39057750-39057839	GM10248	blood:	n/a	n/a
45	CTCF	chr14:39069920-39070070	HRE	kidney:	n/a	n/a
46	CTCF	chr14:39074642-39074932	H1-hESC	embryonic stem cell:	n/a	chr14:39074777-39074798
47	CTCF	chr14:39030985-39031139	HepG2	liver:	n/a	n/a
48	CTCF	chr14:39074660-39074810	AG09319	gingival:	n/a	chr14:39074777-39074798
49	CTCF	chr14:39069840-39070109	HUVEC	blood vessel:	n/a	n/a
50	CTCF	chr14:39069940-39070090	HCPEpiC	choroid plexus:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:38372874..38373419-chr14:39069490..39070036,2	MCF-7	breast:
2	chr14:39074650..39075215-chr14:39484283..39484824,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SSTR1-7	chr14:39074459-39075302	NONHSAT036493
2	lnc-SSTR1-6	chr14:39023972-39024247	l_972_chr14:39013725-39019303_testes
3	lnc-SSTR1-6	chr14:39031210-39032466	l_972_chr14:39013725-39019303_testes

No data

Variant related genes	Relation type
ENSG00000271468	TF binding region

Extended variants
information (count: 955 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:955 , 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	rs10139532	chr14:39021522-39021523	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs532762370	chr14:39021579-39021580	Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs539882631	chr14:39021582-39021583	Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs138847871	chr14:39021602-39021603	Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs111897711	chr14:39021636-39021637	Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs7160299	chr14:39021673-39021674	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs549024752	chr14:39021698-39021699	Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs569019410	chr14:39021726-39021727	Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs376648898	chr14:39021762-39021763	Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs141244173	chr14:39021771-39021772	Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs150437307	chr14:39021786-39021787	Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs150856926	chr14:39021804-39021805	Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs10656654	chr14:39021805-39021806	Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs398057009	chr14:39021806-39021807	Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs79488748	chr14:39021807-39021808	Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs138077052	chr14:39021827-39021828	Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs10656655	chr14:39021828-39021829	Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs573294541	chr14:39021879-39021880	Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs539951399	chr14:39021892-39021893	Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs78309642	chr14:39021893-39021894	Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs184720028	chr14:39021895-39021896	Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs7160703	chr14:39021946-39021947	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs555819207	chr14:39021949-39021950	Enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs7144376	chr14:39021969-39021970	Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs371454049	chr14:39022018-39022019	Enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs544448762	chr14:39022045-39022046	Enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs188707258	chr14:39022064-39022065	Enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs538787682	chr14:39022070-39022071	Enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs192091849	chr14:39022082-39022083	Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs138206493	chr14:39022094-39022095	Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs560060288	chr14:39022186-39022187	Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs528916988	chr14:39022193-39022194	Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs375542058	chr14:39022202-39022203	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs542887396	chr14:39022204-39022205	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs562687347	chr14:39022243-39022244	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs543511438	chr14:39022250-39022251	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs143636458	chr14:39022271-39022272	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs377099909	chr14:39022273-39022274	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs199690725	chr14:39022274-39022275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs531527802	chr14:39022376-39022377	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs200604100	chr14:39022452-39022453	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs4144363	chr14:39022453-39022454	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs201272014	chr14:39022456-39022457	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs36006073	chr14:39022480-39022481	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs533440021	chr14:39022490-39022491	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs184444158	chr14:39022493-39022494	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs566839163	chr14:39022546-39022547	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs558792137	chr14:39022576-39022577	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs372722622	chr14:39022577-39022578	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs535507995	chr14:39022585-39022586	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Esophageal cancer	21851588	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
High-proliferative meningiomas	17937814	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Autism	22495311	CNVD
Non-small cell lung cancer	21044232	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Melanoma	18172304	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Medulloblastoma	21979893	CNVD
Oral cancer	21386901	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Hepatocellular carcinoma	22174799	CNVD
Colorectal cancer	16774939	CNVD
Neuroblastoma	19435921	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	17899364	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Gastrointestinal stromal cancer	17535989	CNVD
Monoclonal gammopathy of undetermined significance	17077331	CNVD
Paraganglioma	17535989	CNVD
Pulmonary chondroma	17535989	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Renal cell carcinoma	21668985	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Chronic myeloid leukemia	20724749	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Wilms tumour	21544195	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Burkitt''s lymphoma	19759907	CNVD
Lung cancer	18438408	CNVD
Urothelial carcinoma	21177765	CNVD
Multiple myeloma	17550852	CNVD
Breast cancer	21785460	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Colorectal cancer	16272173	CNVD
Prostate cancer	18632612	CNVD
small cell lung cancer	20016488	CNVD
abnormal development	18461090	CNVD
Prostate cancer	21298110	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	21364760	CNVD
Breast cancer	21858162	CNVD
Myelofibrosis	22110671	CNVD
Intellectual disability	22045946	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Thyroid cancer	19470727	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Cancer	20164919	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39020600-39022200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr14:39020800-39022800	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr14:39021000-39021600	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr14:39022000-39022400	Enhancers	NH-A	brain
5	chr14:39022200-39022800	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr14:39022400-39022800	Weak transcription	NH-A	brain
7	chr14:39022400-39024000	Enhancers	Muscle Satellite Cultured Cells	--
8	chr14:39022600-39023800	Enhancers	HUVEC	blood vessel
9	chr14:39022800-39023000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr14:39022800-39023200	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr14:39022800-39023200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:39022800-39023600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr14:39022800-39023600	Enhancers	H9 Cell Line	embryonic stem cell
14	chr14:39022800-39023600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr14:39022800-39023600	Enhancers	NH-A	brain
16	chr14:39025200-39025800	Enhancers	Brain Germinal Matrix	brain
17	chr14:39025400-39025800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr14:39027600-39028400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr14:39028000-39030000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr14:39028400-39029200	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
21	chr14:39037600-39038200	Enhancers	Fetal Brain Male	brain
22	chr14:39045200-39045600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:39045400-39045800	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr14:39045800-39046600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr14:39046000-39046600	Enhancers	HUES64 Cell Line	embryonic stem cell
26	chr14:39046600-39047600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:39047200-39047400	Enhancers	HSMMtube	muscle
28	chr14:39047200-39047600	Enhancers	Hela-S3	cervix
29	chr14:39047400-39047800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:39047400-39047800	Enhancers	Fetal Muscle Trunk	muscle
31	chr14:39047400-39048000	Enhancers	Muscle Satellite Cultured Cells	--
32	chr14:39047600-39047800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr14:39047600-39048000	Enhancers	H1 Cell Line	embryonic stem cell
34	chr14:39058600-39059200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr14:39062000-39062600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr14:39073800-39074600	Enhancers	HepG2	liver
37	chr14:39074400-39075800	Enhancers	Liver	Liver
38	chr14:39074600-39075200	Flanking Active TSS	HepG2	liver
39	chr14:39075200-39076200	Enhancers	HepG2	liver
40	chr14:39076200-39077400	Weak transcription	HepG2	liver
41	chr14:39077400-39078000	Enhancers	HepG2	liver
42	chr14:39080600-39080800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr14:39080800-39081200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr14:39080800-39081800	Enhancers	HUES48 Cell Line	embryonic stem cell
45	chr14:39080800-39082000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:39080800-39082200	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr14:39081000-39081600	Enhancers	HUES64 Cell Line	embryonic stem cell
48	chr14:39081000-39082000	Enhancers	iPS-15b Cell Line	embryonic stem cell
49	chr14:39081200-39081600	Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr14:39081200-39087600	Weak transcription	Psoas Muscle	Psoas

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