Variant report

Variant	nsv9609
Chromosome Location	chr18:12396442-12399505
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:165)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:165 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr18:12396444-12396634	HepG2	liver:	n/a	n/a
2	ATF3	chr18:12396543-12396768	K562	blood:	n/a	n/a
3	BACH1	chr18:12398537-12398540	K562	blood:	n/a	n/a
4	BHLHE40	chr18:12396492-12396799	HepG2	liver:	n/a	n/a
5	BHLHE40	chr18:12396507-12396629	K562	blood:	n/a	n/a
6	BRCA1	chr18:12397841-12397882	HepG2	liver:	n/a	n/a
7	CBX3	chr18:12396297-12396914	HCT-116	colon:	n/a	n/a
8	CCNT2	chr18:12396544-12396851	K562	blood:	n/a	n/a
9	CEBPB	chr18:12396425-12396835	Hela-S3	cervix:	n/a	n/a
10	CHD2	chr18:12396432-12396598	HepG2	liver:	n/a	n/a
11	CHD2	chr18:12396430-12396836	Hela-S3	cervix:	n/a	n/a
12	CTCF	chr18:12396358-12396867	MCF-7	breast:	n/a	n/a
13	CTCF	chr18:12397380-12397530	HepG2	liver:	n/a	n/a
14	CTCF	chr18:12396400-12396550	A549	lung:	n/a	n/a
15	CTCF	chr18:12396500-12396650	MCF-7	breast:	n/a	n/a
16	CTCF	chr18:12396549-12396664	Pancreas_OC	pancreas:	n/a	n/a
17	CTCF	chr18:12396397-12396727	K562	blood:	n/a	n/a
18	CTCF	chr18:12396451-12396715	MCF-7	breast:	n/a	n/a
19	CTCF	chr18:12396441-12396688	HepG2	liver:	n/a	n/a
20	CTCF	chr18:12396500-12396650	HepG2	liver:	n/a	n/a
21	CTCF	chr18:12396440-12396590	HRE	kidney:	n/a	n/a
22	CTCF	chr18:12396500-12396650	HEEpiC	esophagus:	n/a	n/a
23	CTCF	chr18:12396463-12396686	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr18:12396520-12396670	HCT-116	colon:	n/a	n/a
25	CTCF	chr18:12396500-12396650	WERI-Rb-1	eye:	n/a	n/a
26	CTCF	chr18:12396395-12396829	MCF-7	breast:	n/a	n/a
27	CTCF	chr18:12396480-12396630	WERI-Rb-1	eye:	n/a	n/a
28	CTCF	chr18:12396399-12396734	K562	blood:	n/a	n/a
29	CTCF	chr18:12396440-12396590	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr18:12396580-12396730	GM12874	blood:	n/a	n/a
31	CTCF	chr18:12396496-12396621	H1-hESC	embryonic stem cell:	n/a	n/a
32	CTCF	chr18:12396360-12396510	RPTEC	kidney:	n/a	n/a
33	CTCF	chr18:12396360-12396510	HBMEC	blood vessel:	n/a	n/a
34	CTCF	chr18:12396420-12396570	HRE	kidney:	n/a	n/a
35	CTCF	chr18:12396396-12396793	K562	blood:	n/a	n/a
36	CTCF	chr18:12396560-12396710	K562	blood:	n/a	n/a
37	CTCF	chr18:12396420-12396570	Caco-2	colon:	n/a	n/a
38	CTCF	chr18:12396527-12396642	LNCaP	prostate:	n/a	n/a
39	CTCF	chr18:12396452-12396714	MCF-7	breast:	n/a	n/a
40	CTCF	chr18:12396460-12396610	RPTEC	kidney:	n/a	n/a
41	CTCF	chr18:12396489-12396679	K562	blood:	n/a	n/a
42	CTCF	chr18:12396444-12396714	MCF-7	breast:	n/a	n/a
43	CTCF	chr18:12396569-12396634	HepG2	liver:	n/a	n/a
44	CTCF	chr18:12396540-12396690	K562	blood:	n/a	n/a
45	CTCF	chr18:12396457-12396685	LNCaP	prostate:	n/a	n/a
46	CTCF	chr18:12396540-12396690	HMEC	breast:	n/a	n/a
47	CTCF	chr18:12396500-12396650	Caco-2	colon:	n/a	n/a
48	CTCF	chr18:12396542-12396589	A549	lung:	n/a	n/a
49	CTCF	chr18:12396420-12396570	NHEK	skin:	n/a	n/a
50	CTCF	chr18:12396420-12396570	MCF-7	breast:	n/a	n/a

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:12395807..12401661-chr18:12404688..12409428,6	K562	blood:
2	chr18:12397803..12400022-chr18:12402423..12404072,2	K562	blood:
3	chr18:12396874..12399343-chr18:12404979..12407652,2	MCF-7	breast:
4	chr18:12396554..12398179-chr18:12529767..12532536,2	K562	blood:
5	chr18:12395766..12397047-chr18:12422358..12424257,19	MCF-7	breast:
6	chr18:12391783..12399361-chr18:12419089..12424121,12	MCF-7	breast:
7	chr18:12396537..12397287-chr18:12423683..12424400,2	MCF-7	breast:
8	chr18:12391024..12393985-chr18:12396752..12399571,2	K562	blood:
9	chr18:12395095..12397958-chr18:12408142..12409691,2	MCF-7	breast:
10	chr18:12395925..12398369-chr18:12399958..12402422,3	MCF-7	breast:
11	chr18:12377168..12379207-chr18:12397711..12400933,3	K562	blood:
12	chr18:12394534..12398086-chr18:12656747..12659714,3	MCF-7	breast:
13	chr18:12396027..12396913-chr18:12422599..12423644,3	MCF-7	breast:
14	chr18:12392133..12394171-chr18:12397781..12399573,3	K562	blood:

No data

Variant related genes	Relation type
RNU7-129P	TF binding region
ENSG00000128789	chromatin interactions
ENSG00000215527	chromatin interactions
ENSG00000141385	chromatin interactions
ENSG00000134278	chromatin interactions
ENSG00000251937	chromatin interactions
ENSG00000141391	chromatin interactions

Extended variants
information (count: 136 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs560989712	chr18:12396528-12396529	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs552133356	chr18:12396541-12396542	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs12956344	chr18:12396551-12396552	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
4	rs189474263	chr18:12396590-12396591	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs76807894	chr18:12396612-12396613	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs373059850	chr18:12396625-12396626	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs139111400	chr18:12396660-12396661	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs547671700	chr18:12396700-12396701	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs76961712	chr18:12396762-12396763	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs144007226	chr18:12396766-12396767	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
11	rs77888719	chr18:12396774-12396775	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
12	rs569491267	chr18:12396790-12396791	Enhancers Weak transcription Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
13	rs538368846	chr18:12396827-12396828	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
14	rs556372617	chr18:12396828-12396829	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs575384340	chr18:12396860-12396861	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
16	rs577973647	chr18:12396932-12396933	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
17	rs538617307	chr18:12396975-12396976	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
18	rs34441341	chr18:12396980-12396981	Weak transcription Enhancers Active TSS Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	rs180850646	chr18:12397015-12397016	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
20	rs373827890	chr18:12397022-12397023	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
21	rs111944421	chr18:12397028-12397029	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
22	rs186250429	chr18:12397051-12397052	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
23	rs191120695	chr18:12397060-12397061	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
24	rs576702707	chr18:12397079-12397080	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
25	rs543553131	chr18:12397107-12397108	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
26	rs553828355	chr18:12397108-12397109	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
27	rs543250419	chr18:12397110-12397111	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
28	rs113108325	chr18:12397116-12397117	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
29	rs113927821	chr18:12397169-12397170	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
30	rs545913079	chr18:12397200-12397201	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
31	rs559241154	chr18:12397219-12397220	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
32	rs146416264	chr18:12397238-12397239	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
33	rs548064412	chr18:12397256-12397257	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
34	rs569553607	chr18:12397265-12397266	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
35	rs118082411	chr18:12397274-12397275	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
36	rs71351475	chr18:12397278-12397279	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs113446508	chr18:12397287-12397288	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
38	rs539046458	chr18:12397301-12397302	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
39	rs190374224	chr18:12397324-12397325	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
40	rs554238362	chr18:12397350-12397351	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
41	rs139336299	chr18:12397354-12397355	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
42	rs566066894	chr18:12397376-12397377	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
43	rs536987481	chr18:12397396-12397397	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
44	rs555300274	chr18:12397590-12397591	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
45	rs576711072	chr18:12397609-12397610	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
46	rs543610747	chr18:12397656-12397657	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
47	rs558631478	chr18:12397682-12397683	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
48	rs370083759	chr18:12397782-12397783	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
49	rs182924074	chr18:12397803-12397804	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
50	rs377709315	chr18:12397805-12397806	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:57)

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	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12394600-12401600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr18:12394600-12407000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr18:12394800-12396600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr18:12394800-12396600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr18:12394800-12396600	Weak transcription	A549	lung
6	chr18:12396000-12397000	Flanking Active TSS	HepG2	liver
7	chr18:12396200-12396800	Flanking Active TSS	Hela-S3	cervix
8	chr18:12396200-12397000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr18:12396400-12397000	Enhancers	Colonic Mucosa	Colon
10	chr18:12396400-12397000	Flanking Active TSS	K562	blood
11	chr18:12396600-12396800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr18:12396600-12396800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr18:12396600-12397000	Active TSS	A549	lung
14	chr18:12396600-12397600	Enhancers	Placenta	Placenta
15	chr18:12396600-12401800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr18:12396600-12404000	Weak transcription	Right Atrium	heart
17	chr18:12396800-12397000	Active TSS	Hela-S3	cervix
18	chr18:12396800-12402800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr18:12397000-12397200	Enhancers	HepG2	liver
20	chr18:12397000-12397400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr18:12397000-12399600	Weak transcription	Colonic Mucosa	Colon
22	chr18:12397000-12402200	Weak transcription	K562	blood
23	chr18:12397200-12397600	Flanking Active TSS	HepG2	liver
24	chr18:12397400-12398000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr18:12397600-12398000	Enhancers	HepG2	liver
26	chr18:12397800-12398000	Enhancers	Fetal Heart	heart
27	chr18:12398000-12398200	Bivalent Enhancer	HepG2	liver
28	chr18:12398000-12401800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr18:12398000-12403400	Weak transcription	Fetal Heart	heart
30	chr18:12398400-12398800	Enhancers	Ovary	ovary
31	chr18:12399200-12400400	Bivalent Enhancer	HepG2	liver

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