Variant report

Variant	nsv960252
Chromosome Location	chr18:12161216-12220798
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	chr18:12200242-12200461	K562	blood:	n/a	n/a
2	BATF	chr18:12200185-12200572	GM12878	blood:	n/a	chr18:12200380-12200391
3	BATF	chr18:12200183-12200545	GM12878	blood:	n/a	chr18:12200380-12200391
4	BATF	chr18:12199649-12200080	GM12878	blood:	n/a	n/a
5	BCL11A	chr18:12200159-12200559	GM12878	blood:	n/a	n/a
6	BCL11A	chr18:12200078-12200562	GM12878	blood:	n/a	chr18:12200149-12200156
7	BCL11A	chr18:12180233-12180405	GM12878	blood:	n/a	n/a
8	BHLHE40	chr18:12180021-12180333	HepG2	liver:	n/a	n/a
9	BHLHE40	chr18:12200353-12200456	GM12878	blood:	n/a	n/a
10	CBX3	chr18:12200185-12200536	K562	blood:	n/a	n/a
11	CBX3	chr18:12208401-12208814	K562	blood:	n/a	n/a
12	CEBPB	chr18:12214692-12214750	Hela-S3	cervix:	n/a	n/a
13	CEBPB	chr18:12208436-12208770	K562	blood:	n/a	chr18:12208623-12208634
14	CEBPB	chr18:12208432-12208791	K562	blood:	n/a	chr18:12208623-12208634
15	CEBPB	chr18:12208518-12208727	K562	blood:	n/a	chr18:12208623-12208634
16	CEBPD	chr18:12200168-12200539	K562	blood:	n/a	n/a
17	CTCF	chr18:12219856-12219881	GM20000	blood:	n/a	n/a
18	CTCF	chr18:12216493-12216512	GM20000	blood:	n/a	n/a
19	CTCF	chr18:12188293-12188319	GM10248	blood:	n/a	n/a
20	CTCF	chr18:12166960-12167110	K562	blood:	n/a	n/a
21	CTCF	chr18:12201044-12201105	GM12891	blood:	n/a	chr18:12201084-12201093
22	CTCF	chr18:12215588-12215610	K562	blood:	n/a	n/a
23	CTCF	chr18:12201013-12201104	GM19238	blood:	n/a	chr18:12201084-12201093
24	CTCF	chr18:12200996-12201104	GM19239	blood:	n/a	chr18:12201084-12201093
25	CTCF	chr18:12190031-12190063	GM13976	blood:	n/a	n/a
26	CUX1	chr18:12200267-12200419	K562	blood:	n/a	n/a
27	EBF1	chr18:12214700-12214976	GM12878	blood:	n/a	n/a
28	EBF1	chr18:12200853-12201155	GM12878	blood:	n/a	n/a
29	EBF1	chr18:12180304-12180604	GM12878	blood:	n/a	n/a
30	EBF1	chr18:12200223-12200565	GM12878	blood:	n/a	chr18:12200465-12200476
31	EBF1	chr18:12200269-12200571	GM12878	blood:	n/a	chr18:12200465-12200476
32	EBF1	chr18:12201158-12201415	GM12878	blood:	n/a	n/a
33	EBF1	chr18:12200199-12200577	GM12878	blood:	n/a	chr18:12200465-12200476
34	EBF1	chr18:12179786-12180028	GM12878	blood:	n/a	n/a
35	EP300	chr18:12218760-12218898	Hela-S3	cervix:	n/a	n/a
36	EP300	chr18:12200170-12200569	GM12878	blood:	n/a	chr18:12200311-12200325 chr18:12200379-12200388
37	EP300	chr18:12200270-12200458	GM12878	blood:	n/a	chr18:12200311-12200325 chr18:12200379-12200388
38	EP300	chr18:12200267-12200459	GM12878	blood:	n/a	chr18:12200311-12200325 chr18:12200379-12200388
39	EP300	chr18:12200264-12200453	GM12878	blood:	n/a	chr18:12200311-12200325 chr18:12200379-12200388
40	EP300	chr18:12200243-12200443	K562	blood:	n/a	chr18:12200311-12200325 chr18:12200379-12200388
41	FOS	chr18:12200258-12200462	MCF10A-Er-Src	breast:	n/a	chr18:12200381-12200388 chr18:12200380-12200388 chr18:12200378-12200389 chr18:12200380-12200388 chr18:12200378-12200389
42	FOS	chr18:12181810-12181819	MCF10A-Er-Src	breast:	n/a	n/a
43	FOS	chr18:12214575-12214919	MCF10A-Er-Src	breast:	n/a	chr18:12214723-12214732
44	FOS	chr18:12200259-12200459	MCF10A-Er-Src	breast:	n/a	chr18:12200381-12200388 chr18:12200380-12200388 chr18:12200378-12200389 chr18:12200380-12200388 chr18:12200378-12200389
45	FOS	chr18:12181646-12181831	MCF10A-Er-Src	breast:	n/a	n/a
46	FOS	chr18:12200263-12200452	MCF10A-Er-Src	breast:	n/a	chr18:12200381-12200388 chr18:12200380-12200388 chr18:12200378-12200389 chr18:12200380-12200388 chr18:12200378-12200389
47	FOS	chr18:12218719-12218952	MCF10A-Er-Src	breast:	n/a	chr18:12218845-12218854
48	FOS	chr18:12198913-12198962	MCF10A-Er-Src	breast:	n/a	chr18:12198933-12198941 chr18:12198932-12198942 chr18:12198933-12198940
49	FOS	chr18:12200220-12200536	HUVEC	blood vessel:	n/a	chr18:12200381-12200388 chr18:12200380-12200388 chr18:12200378-12200389 chr18:12200380-12200388 chr18:12200378-12200389
50	FOS	chr18:12215986-12216185	MCF10A-Er-Src	breast:	n/a	chr18:12216137-12216149 chr18:12216138-12216147 chr18:12216139-12216147 chr18:12216140-12216147 chr18:12216139-12216148 chr18:12216138-12216148

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:10617533..10619309-chr18:12216627..12218573,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CIDEA-2	chr18:12198516-12199209	NONHSAT058346
2	lnc-CIDEA-2	chr18:12211851-12212464	NONHSAT058351
3	lnc-CIDEA-2	chr18:12200333-12200601	NONHSAT058347
4	lnc-ANKRD62-4	chr18:12189748-12190358	NONHSAT058345
5	lnc-CIDEA-2	chr18:12201953-12202077	NONHSAT058349
6	lnc-CIDEA-2	chr18:12218698-12218831	XLOC_012630
7	lnc-CIDEA-2	chr18:12201953-12201978	ENSG00000267643.1
8	lnc-CIDEA-2	chr18:12218657-12218825	NONHSAT058354
9	lnc-CIDEA-2	chr18:12191194-12191342	NONHSAT058348
10	lnc-CIDEA-2	chr18:12201981-12202077	NONHSAT058350
11	lnc-CIDEA-2	chr18:12200778-12201173	ENSG00000267643.1
12	lnc-ANKRD62-3	chr18:12180636-12180756	l_1532_chr18:12179325-12180756_testes
13	lnc-CIDEA-2	chr18:12213406-12213596	NONHSAT058354
14	lnc-CIDEA-2	chr18:12201121-12201173	NONHSAT058348
15	lnc-CIDEA-2	chr18:12191194-12191342	NONHSAT058346
16	lnc-ANKRD62-3	chr18:12179860-12180358	l_1532_chr18:12179325-12180756_testes
17	lnc-CIDEA-2	chr18:12209364-12209459	NONHSAT058349
18	lnc-CIDEA-2	chr18:12200330-12200570	NONHSAT058348
19	lnc-CIDEA-2	chr18:12209364-12209459	NONHSAT058351
20	lnc-CIDEA-2	chr18:12211851-12212071	NONHSAT058350
21	lnc-ANKRD62-3	chr18:12179326-12179828	l_1532_chr18:12179325-12180756_testes
22	lnc-CIDEA-2	chr18:12218647-12218831	NONHSAT058349
23	lnc-CIDEA-2	chr18:12214826-12214961	NONHSAT058354
24	lnc-CIDEA-6	chr18:12211377-12211806	NONHSAT058353
25	lnc-CIDEA-2	chr18:12209364-12209459	NONHSAT058350
26	lnc-CIDEA-2	chr18:12197926-12198053	NONHSAT058347
27	lnc-CIDEA-2	chr18:12209335-12209459	NONHSAT058352
28	lnc-CIDEA-2	chr18:12200778-12201173	NONHSAT058349
29	lnc-CIDEA-2	chr18:12191194-12191342	NONHSAT058347
30	lnc-CIDEA-2	chr18:12218647-12218831	NONHSAT058352
31	lnc-CIDEA-2	chr18:12218590-12218829	XLOC_012630
32	lnc-ANKRD62-4	chr18:12190636-12190977	NONHSAT058345
33	lnc-CIDEA-2	chr18:12198516-12198669	NONHSAT058348
34	lnc-CIDEA-2	chr18:12201953-12202077	NONHSAT058348
35	lnc-CIDEA-2	chr18:12218590-12218842	XLOC_012630
36	lnc-CIDEA-2	chr18:12197926-12198053	NONHSAT058346
37	lnc-CIDEA-2	chr18:12209364-12209429	NONHSAT058348
38	lnc-CIDEA-2	chr18:12197926-12198053	NONHSAT058348
39	lnc-CIDEA-2	chr18:12208397-12208493	NONHSAT058351
40	lnc-CIDEA-2	chr18:12198516-12198669	NONHSAT058347

Variant related genes	Relation type
ENSG00000267643	TF binding region
CCDC58P3	TF binding region
ENSG00000267116	TF binding region
ENSG00000267733	TF binding region

Extended variants
information (count: 1808 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:1808 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs571720689	chr18:12161289-12161290	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs539238178	chr18:12161337-12161338	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182083020	chr18:12161353-12161354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs149983201	chr18:12161368-12161369	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs536244191	chr18:12161420-12161421	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554563315	chr18:12161444-12161445	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs142321056	chr18:12161477-12161478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs113322364	chr18:12161478-12161479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs34757394	chr18:12161479-12161480	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs61166779	chr18:12161480-12161481	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs186843143	chr18:12161505-12161506	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs4337367	chr18:12161543-12161544	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
13	rs565198095	chr18:12161557-12161558	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs567923510	chr18:12161611-12161612	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs192139541	chr18:12161623-12161624	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs541250655	chr18:12161656-12161657	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs183908703	chr18:12161661-12161662	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs146644271	chr18:12161668-12161669	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs535407915	chr18:12161683-12161684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs373589810	chr18:12161691-12161692	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs373561382	chr18:12161719-12161720	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs560902258	chr18:12161737-12161738	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs185078400	chr18:12161753-12161754	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs550173649	chr18:12161774-12161775	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs189881665	chr18:12161776-12161777	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs377358981	chr18:12161795-12161796	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs370747955	chr18:12161824-12161825	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs4456573	chr18:12161842-12161843	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
29	rs182481910	chr18:12161890-12161891	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs187116071	chr18:12161895-12161896	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs192751515	chr18:12161900-12161901	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs143814971	chr18:12161945-12161946	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs146838823	chr18:12161987-12161988	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs183538419	chr18:12162005-12162006	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs8087637	chr18:12162067-12162068	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
36	rs577118752	chr18:12162069-12162070	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540862234	chr18:12162076-12162077	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188414784	chr18:12162111-12162112	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149060093	chr18:12162134-12162135	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs8088992	chr18:12162190-12162191	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
41	rs111246581	chr18:12162235-12162236	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	mRNA abundance
42	rs576037674	chr18:12162281-12162282	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs531591972	chr18:12162331-12162332	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78854398	chr18:12162356-12162357	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs543845003	chr18:12162380-12162381	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs9947047	chr18:12162425-12162426	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs532799071	chr18:12162440-12162441	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs143100517	chr18:12162448-12162449	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs151168351	chr18:12162555-12162556	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs530331740	chr18:12162683-12162684	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	CNVD
Intellectual disability	22102821	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Acute myeloid leukemia	16864856	CNVD
Seminomas	18059402	CNVD
Chronic lymphocytic leukemia	18922857	CNVD
Kartagener syndrome	16639409	CNVD
Basal cell lymphoma	21115979	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Cancer	21183584	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Human rectal carcinomas	16397240	CNVD
Melanoma	18172304	CNVD
Colorectal cancer	16272173	CNVD
Colorectal cancer	19150955	CNVD
Follicular lymphoma	20505157	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Neuroblastoma	18923191	CNVD
Glioblastoma multiforme	21080181	CNVD
Cancer	21637783	CNVD
Medulloblastoma	21979893	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Trisomy 18 syndrome	17576883	CNVD
Autism	20808228	CNVD
lymphocytic leukemia	21291569	CNVD
Barrett''s syndrome	19417022	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Ewing''s sarcoma	17952124	CNVD
Multiple myeloma	17550852	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Breast cancer	21364760	CNVD
small cell lung cancer	20016488	CNVD
Heart disease	21282601	CNVD
Glioblastoma multiforme	21922591	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute myeloid leukemia	17377590	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Developmental delay	21147756	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16620391	CNVD
Myelofibrosis	22110671	CNVD
Retinoblastoma	21504564	CNVD
Glioma	17123091	CNVD
Neurodevelopmental disorder	22521361	CNVD
Non-syndromic sensorineural hearing loss	19212409	CNVD

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12154200-12183800	Weak transcription	Pancreas	Pancrea
2	chr18:12161600-12163400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr18:12173000-12173200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr18:12173200-12175000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:12175000-12175200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr18:12179400-12179800	Enhancers	HepG2	liver
7	chr18:12195400-12196000	Enhancers	HUVEC	blood vessel
8	chr18:12195800-12196000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr18:12195800-12198800	Weak transcription	Esophagus	oesophagus
10	chr18:12196600-12196800	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr18:12198800-12199200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr18:12198800-12200600	Enhancers	Fetal Thymus	thymus
13	chr18:12198800-12201000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr18:12199000-12199200	Enhancers	Esophagus	oesophagus
15	chr18:12199000-12200800	Enhancers	GM12878-XiMat	blood
16	chr18:12199000-12201000	Enhancers	Primary B cells from peripheral blood	blood
17	chr18:12199200-12199600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr18:12199600-12200800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr18:12199800-12200600	Enhancers	Primary hematopoietic stem cells short term culture	blood
20	chr18:12199800-12201000	Enhancers	K562	blood
21	chr18:12200600-12202000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr18:12201000-12202400	Weak transcription	K562	blood
23	chr18:12202000-12202200	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr18:12204800-12208400	Weak transcription	K562	blood
25	chr18:12208400-12208600	Enhancers	Hela-S3	cervix
26	chr18:12208400-12208600	Enhancers	K562	blood
27	chr18:12208400-12208800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
28	chr18:12208400-12208800	Active TSS	A549	lung
29	chr18:12208600-12209000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
30	chr18:12208600-12209000	Flanking Active TSS	Hela-S3	cervix
31	chr18:12208600-12209000	Flanking Active TSS	K562	blood
32	chr18:12208600-12209200	Enhancers	NHEK	skin
33	chr18:12208600-12209400	Enhancers	HepG2	liver
34	chr18:12208800-12209000	Flanking Bivalent TSS/Enh	A549	lung
35	chr18:12209000-12209200	Active TSS	K562	blood
36	chr18:12209000-12209400	Enhancers	Hela-S3	cervix
37	chr18:12209200-12217400	Weak transcription	NHEK	skin
38	chr18:12209400-12218600	Weak transcription	Hela-S3	cervix
39	chr18:12212600-12213200	Enhancers	Fetal Heart	heart
40	chr18:12213200-12216000	Weak transcription	Fetal Heart	heart
41	chr18:12214400-12215000	Enhancers	HMEC	breast
42	chr18:12214400-12215200	Enhancers	GM12878-XiMat	blood
43	chr18:12214800-12215000	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr18:12215000-12218600	Weak transcription	HMEC	breast
45	chr18:12216000-12216600	Enhancers	Fetal Heart	heart
46	chr18:12217400-12218000	Enhancers	NHEK	skin
47	chr18:12217800-12219000	Enhancers	HUVEC	blood vessel
48	chr18:12218000-12218400	Weak transcription	NHEK	skin
49	chr18:12218400-12219200	Enhancers	NHEK	skin
50	chr18:12218600-12219000	Enhancers	Hela-S3	cervix

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