Variant report

Variant	nsv909780
Chromosome Location	chr18:65929231-66022758
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ATF1	chr18:66004329-66004513	K562	blood:	n/a	n/a
2	BHLHE40	chr18:65994092-65994109	GM12878	blood:	n/a	n/a
3	CEBPB	chr18:65930082-65930586	Hela-S3	cervix:	n/a	n/a
4	CEBPB	chr18:66021571-66021669	HepG2	liver:	n/a	chr18:66021647-66021660
5	CEBPB	chr18:65942834-65943277	IMR90	lung:	n/a	chr18:65943074-65943085
6	CEBPB	chr18:65930194-65930563	IMR90	lung:	n/a	n/a
7	CEBPB	chr18:65942945-65943241	HepG2	liver:	n/a	chr18:65943074-65943085
8	CEBPB	chr18:65957312-65957504	HepG2	liver:	n/a	chr18:65957314-65957325 chr18:65957314-65957325
9	CEBPB	chr18:65957207-65957432	IMR90	lung:	n/a	chr18:65957314-65957325 chr18:65957314-65957325 chr18:65957307-65957318
10	CEBPB	chr18:65942882-65943264	Hela-S3	cervix:	n/a	chr18:65943074-65943085
11	CEBPB	chr18:65934853-65935219	IMR90	lung:	n/a	n/a
12	CEBPB	chr18:65934868-65935163	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr18:65964647-65964663	GM13976	blood:	n/a	n/a
14	CTCF	chr18:65998040-65998190	AG10803	skin:	n/a	n/a
15	CTCF	chr18:65997920-65998070	HCFaa	heart:	n/a	n/a
16	CTCF	chr18:65979800-65979950	HBMEC	blood vessel:	n/a	n/a
17	CTCF	chr18:65998160-65998310	AoAF	blood vessel:	n/a	n/a
18	CTCF	chr18:65979720-65979870	NHDF-neo	bronchial:	n/a	n/a
19	CTCF	chr18:65997920-65998070	HPAF	blood vessel:	n/a	n/a
20	CTCF	chr18:65998000-65998150	HMF	breast:	n/a	n/a
21	CTCF	chr18:65997940-65998090	HPAF	blood vessel:	n/a	n/a
22	CTCF	chr18:66015892-66015930	Lung_OC	lung:	n/a	n/a
23	CTCF	chr18:65998040-65998190	HPF	lung:	n/a	n/a
24	CTCF	chr18:65979740-65979890	BJ	skin:	n/a	n/a
25	CTCF	chr18:65997880-65998150	AG04450	lung:	n/a	n/a
26	CTCF	chr18:65998080-65998230	HBMEC	blood vessel:	n/a	n/a
27	CTCF	chr18:65979720-65979870	AoAF	blood vessel:	n/a	n/a
28	CTCF	chr18:65953710-65953785	Fibrobl	skin:	n/a	n/a
29	CTCF	chr18:65979760-65979910	AG10803	skin:	n/a	n/a
30	CTCF	chr18:65979700-65979850	HFF	foreskin:	n/a	n/a
31	CTCF	chr18:65939380-65939530	HA-sp	spinal cord:	n/a	n/a
32	CTCF	chr18:65979800-65979950	HCPEpiC	choroid plexus:	n/a	n/a
33	CTCF	chr18:65997940-65998090	AG04450	lung:	n/a	n/a
34	CTCF	chr18:65997960-65998110	AoAF	blood vessel:	n/a	n/a
35	CTCF	chr18:65997920-65998070	HCM	heart:	n/a	n/a
36	CTCF	chr18:65997940-65998090	HVMF	connective:	n/a	n/a
37	CTCF	chr18:65997980-65998130	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr18:65998020-65998170	HMF	breast:	n/a	n/a
39	CTCF	chr18:65979740-65979890	SK-N-SH_RA	brain:	n/a	n/a
40	CTCF	chr18:65979760-65979910	HMEC	breast:	n/a	n/a
41	E2F4	chr18:65981745-65981939	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F4	chr18:65991258-65991433	MCF10A-Er-Src	breast:	n/a	n/a
43	E2F4	chr18:66012057-66012321	MCF10A-Er-Src	breast:	n/a	n/a
44	EP300	chr18:65949373-65949984	SK-N-SH	brain:	n/a	n/a
45	EP300	chr18:65969251-65969576	SK-N-SH_RA	brain:	n/a	n/a
46	EP300	chr18:65949411-65949862	SK-N-SH_RA	brain:	n/a	n/a
47	EP300	chr18:65949258-65950061	SK-N-SH	brain:	n/a	n/a
48	EP300	chr18:65965493-65965874	SK-N-SH_RA	brain:	n/a	chr18:65965494-65965504
49	EP300	chr18:65930116-65930708	SK-N-SH	brain:	n/a	chr18:65930360-65930369
50	EP300	chr18:65930140-65930562	Hela-S3	cervix:	n/a	chr18:65930360-65930369

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TMX3-2	chr18:65930736-65930840	ENSG00000264699.1
2	lnc-TMX3-2	chr18:65930736-65931225	NONHSAT059730
3	lnc-TMX3-2	chr18:65932041-65932064	ENSG00000264699.1
4	lnc-TMX3-2	chr18:65930736-65931225	NONHSAT059732

Variant related genes	Relation type
ENSG00000260747	TF binding region
ENSG00000264699	TF binding region

Extended variants
information (count: 3100 )
Associated
traits (count: 81 )

Variant overlapped rSNPs/rCNVs (count:3100 , 50 per page) page: 1 2 3 4 5 6 7 ... 62

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs593418	chr18:65929231-65929232	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs114461178	chr18:65929248-65929249	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs577094598	chr18:65929284-65929285	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs546092184	chr18:65929323-65929324	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs558678194	chr18:65929330-65929331	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs571256648	chr18:65929334-65929335	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs11876771	chr18:65929338-65929339	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs181269867	chr18:65929382-65929383	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs541907715	chr18:65929462-65929463	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs562192212	chr18:65929475-65929476	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs113721845	chr18:65929502-65929503	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs185732201	chr18:65929537-65929538	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191618875	chr18:65929541-65929542	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs182181715	chr18:65929591-65929592	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs553700880	chr18:65929639-65929640	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs148462892	chr18:65929695-65929696	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs606048	chr18:65929706-65929707	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs528808651	chr18:65929732-65929733	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs111895098	chr18:65929758-65929759	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
20	rs75556811	chr18:65929858-65929859	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
21	rs17078791	chr18:65929881-65929882	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs372732952	chr18:65929885-65929886	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
23	rs569261214	chr18:65929890-65929891	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
24	rs554806956	chr18:65929903-65929904	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
25	rs17206713	chr18:65930026-65930027	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs570010916	chr18:65930061-65930062	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
27	rs187151700	chr18:65930070-65930071	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
28	rs114106881	chr18:65930087-65930088	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
29	rs534777562	chr18:65930113-65930114	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
30	rs370629128	chr18:65930123-65930124	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
31	rs553326658	chr18:65930132-65930133	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs568316861	chr18:65930134-65930135	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs192436435	chr18:65930137-65930138	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs72955550	chr18:65930145-65930146	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs565017003	chr18:65930161-65930162	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs575295890	chr18:65930164-65930165	Weak transcription Enhancers Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs373382515	chr18:65930209-65930210	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs539496222	chr18:65930254-65930255	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs558099914	chr18:65930273-65930274	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs78389296	chr18:65930321-65930322	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
41	rs540396894	chr18:65930342-65930343	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
42	rs617127	chr18:65930378-65930379	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
43	rs541086889	chr18:65930382-65930383	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
44	rs573953221	chr18:65930451-65930452	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
45	rs74850006	chr18:65930462-65930463	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
46	rs182182691	chr18:65930488-65930489	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
47	rs533300052	chr18:65930490-65930491	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
48	rs186869527	chr18:65930496-65930497	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
49	rs367793962	chr18:65930506-65930507	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a
50	rs560356607	chr18:65930547-65930548	Weak transcription Enhancers Flanking Active TSS Active TSS	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:81)

Disease	PMID	Source
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	21080181	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Barrett''s syndrome	19417022	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	18172304	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
18q deletion syndrome	19533772	CNVD
Acute myeloid leukemia	16864856	CNVD
Colorectal cancer	21102417	CNVD
Colorectal cancer	20709793	CNVD
Pancreatic cancer	21811562	CNVD
Basal cell lymphoma	21115979	CNVD
Mucosa-associated lymphoid tissue lymphomas	21459788	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Oligodendroglial tumors	17285580	CNVD
colon cancer	17210682	CNVD
Prostate cancer	16573809	CNVD
Autism	16446308	CNVD
Colorectal cancer	19359472	CNVD
Colorectal cancer	16272173	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	18056178	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Cancer	16751803	CNVD
Metanephric adenoma	20802469	CNVD
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Colorectal cancer	21297112	CNVD
Breast cancer	17603634	CNVD
Thyroid cancer	19087340	CNVD
Urothelial carcinoma	21177765	CNVD
Oral cancer	21386901	CNVD
Colorectal cancer	19150955	CNVD
Acute myeloid leukemia	21251322	CNVD
Seminomas	18059402	CNVD
Breast cancer	16272173	CNVD
Breast cancer	17133270	CNVD
prenatal diagnosis	22389664	CNVD
Medulloblastoma	16783165	CNVD
Burkitt''s lymphoma	18698080	CNVD
Colorectal cancer	16774939	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Testicular germ cell tumor	18059402	CNVD
Glioblastoma	21080181	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Burkitt''s lymphoma	20823134	CNVD
Lung cancer	18438408	CNVD
Anaplastic large cell lymphoma	18179710	CNVD
Hodgkin''s lymphoma	18179710	CNVD
Colorectal cancer	16912164	CNVD
Intracranial aneurysm	16715129	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Gastric cancer	22539939	CNVD
Ovarian cancer	20844748	CNVD
Squamous cell cancer	20885788	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Breast cancer	21364760	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Bladder cancer	21909424	CNVD
Pancreatic cancer	21811587	CNVD
Lung squamous cell carcinoma	22363434	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	22286061	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:177 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:65924800-65933800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr18:65928000-65930600	Enhancers	NHEK	skin
3	chr18:65928600-65929600	Enhancers	HMEC	breast
4	chr18:65928800-65929800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr18:65929000-65929400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr18:65929000-65930000	Enhancers	Muscle Satellite Cultured Cells	--
7	chr18:65929000-65931600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr18:65929200-65929600	Weak transcription	HSMM	muscle
9	chr18:65929200-65930000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr18:65929200-65930400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr18:65929200-65930400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr18:65929400-65929800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr18:65929600-65930200	Flanking Active TSS	HMEC	breast
14	chr18:65929600-65931000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr18:65929600-65931000	Enhancers	Hela-S3	cervix
16	chr18:65929600-65931200	Enhancers	HSMM	muscle
17	chr18:65929600-65931200	Enhancers	NHDF-Ad	bronchial
18	chr18:65929600-65931400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr18:65929800-65930000	Enhancers	Osteobl	bone
20	chr18:65929800-65930200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr18:65929800-65931200	Enhancers	NH-A	brain
22	chr18:65929800-65931200	Enhancers	NHLF	lung
23	chr18:65929800-65931400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr18:65930000-65930200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr18:65930000-65930200	Flanking Active TSS	Osteobl	bone
26	chr18:65930000-65931000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr18:65930000-65931200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr18:65930000-65931200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr18:65930000-65931200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr18:65930000-65931200	Enhancers	HSMMtube	muscle
31	chr18:65930200-65930600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr18:65930200-65930600	Active TSS	HMEC	breast
33	chr18:65930200-65930600	Enhancers	Osteobl	bone
34	chr18:65930400-65930800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr18:65930600-65930800	Flanking Active TSS	HMEC	breast
36	chr18:65930600-65931000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr18:65930600-65931000	Flanking Active TSS	NHEK	skin
38	chr18:65930600-65931000	Flanking Active TSS	Osteobl	bone
39	chr18:65930800-65931600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr18:65930800-65931600	Enhancers	HMEC	breast
41	chr18:65931000-65931400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr18:65931000-65931400	Enhancers	Osteobl	bone
43	chr18:65931000-65931600	Enhancers	NHEK	skin
44	chr18:65931000-65934800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr18:65931000-65935000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr18:65931200-65931600	Enhancers	Muscle Satellite Cultured Cells	--
47	chr18:65931200-65934800	Weak transcription	HSMM	muscle
48	chr18:65931400-65934800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr18:65931400-65935600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr18:65931600-65933600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links