Variant report

Variant	nsv960622
Chromosome Location	chr18:13141328-13142837
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	CTCF	chr18:13142240-13142390	GM06990	blood:	n/a	chr18:13142251-13142259
2	FOXA1	chr18:13142660-13143140	HepG2	liver:	n/a	n/a
3	FOXA1	chr18:13142780-13143076	HepG2	liver:	n/a	n/a
4	FOXA1	chr18:13142766-13143069	HepG2	liver:	n/a	n/a
5	FOXA2	chr18:13142746-13143016	HepG2	liver:	n/a	n/a
6	POLR2A	chr18:13142244-13142336	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:13139722..13141913-chr18:13426612..13428353,2	MCF-7	breast:
2	chr18:13141699..13142727-chr18:13159347..13160164,3	MCF-7	breast:
3	chr18:13142218..13144930-chr18:13215209..13217622,2	MCF-7	breast:
4	chr18:13140854..13145257-chr18:13540228..13543130,4	MCF-7	breast:
5	chr18:13139784..13142937-chr18:13215706..13218370,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000267656	TF binding region
ENSG00000267239	chromatin interactions
ENSG00000267690	chromatin interactions
ENSG00000168675	chromatin interactions

Extended variants
information (count: 96 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:96 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs564170630	chr18:13141369-13141370	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
2	rs475139	chr18:13141396-13141397	Weak transcription	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
3	rs184155383	chr18:13141397-13141398	Weak transcription	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
4	rs560097125	chr18:13141411-13141412	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
5	rs530456385	chr18:13141412-13141413	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
6	rs548894823	chr18:13141422-13141423	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
7	rs189753450	chr18:13141425-13141426	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs114060613	chr18:13141426-13141427	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs373744187	chr18:13141494-13141495	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs144191849	chr18:13141521-13141522	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs552406376	chr18:13141535-13141536	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs540511755	chr18:13141544-13141545	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs570897255	chr18:13141559-13141560	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs534521454	chr18:13141560-13141561	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs72877637	chr18:13141609-13141610	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs562442858	chr18:13141631-13141632	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
17	rs567906931	chr18:13141660-13141661	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
18	rs557770389	chr18:13141675-13141676	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
19	rs112533772	chr18:13141690-13141691	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
20	rs199882693	chr18:13141707-13141708	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
21	rs556819030	chr18:13141714-13141715	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
22	rs59874514	chr18:13141718-13141719	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
23	rs529942604	chr18:13141726-13141727	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
24	rs548298757	chr18:13141754-13141755	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
25	rs568028746	chr18:13141808-13141809	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs566895011	chr18:13141820-13141821	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs372282024	chr18:13141822-13141823	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs550571961	chr18:13141823-13141824	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs200718967	chr18:13141825-13141826	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs75691884	chr18:13141827-13141828	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs74177583	chr18:13141829-13141830	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs368315755	chr18:13141831-13141832	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs575168766	chr18:13141833-13141834	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
34	rs7235202	chr18:13141859-13141860	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	mRNA abundance
35	rs146646121	chr18:13141901-13141902	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs7236162	chr18:13141904-13141905	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
37	rs540319698	chr18:13141907-13141908	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs7236172	chr18:13141910-13141911	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
39	rs368184806	chr18:13141928-13141929	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs552008962	chr18:13141931-13141932	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs570513081	chr18:13141932-13141933	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs58003301	chr18:13141933-13141934	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs542574506	chr18:13141947-13141948	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs563937557	chr18:13141952-13141953	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs531604569	chr18:13141963-13141964	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs530832601	chr18:13141990-13141991	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs536778285	chr18:13142053-13142054	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs552497884	chr18:13142072-13142073	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs564433319	chr18:13142088-13142089	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs528628702	chr18:13142089-13142090	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	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	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
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:12 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13136400-13145800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr18:13138000-13142800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:13138000-13144200	Weak transcription	Pancreas	Pancrea
4	chr18:13138000-13144200	Weak transcription	Psoas Muscle	Psoas
5	chr18:13138800-13143200	Weak transcription	Adipose Nuclei	Adipose
6	chr18:13138800-13143800	Weak transcription	Spleen	Spleen
7	chr18:13138800-13144200	Weak transcription	Thymus	Thymus
8	chr18:13140400-13141400	Weak transcription	Dnd41	blood
9	chr18:13140800-13141400	Weak transcription	HepG2	liver
10	chr18:13141400-13141600	Enhancers	Dnd41	blood
11	chr18:13141400-13143200	Enhancers	HepG2	liver
12	chr18:13142800-13143200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell

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