Variant report

Variant	nsv960655
Chromosome Location	chr18:12097828-12098704
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	BATF	chr18:12098406-12098669	GM12878	blood:	n/a	n/a
2	BATF	chr18:12098377-12098759	GM12878	blood:	n/a	n/a
3	BCL3	chr18:12098402-12098798	GM12878	blood:	n/a	n/a
4	EP300	chr18:12098681-12098695	GM12878	blood:	n/a	n/a
5	EP300	chr18:12098514-12098714	GM12878	blood:	n/a	n/a
6	EP300	chr18:12098669-12098845	GM12878	blood:	n/a	n/a
7	FOS	chr18:12098339-12098519	MCF10A-Er-Src	breast:	n/a	n/a
8	NFATC1	chr18:12098195-12098760	GM12878	blood:	n/a	n/a
9	NFIC	chr18:12098108-12098800	GM12878	blood:	n/a	n/a
10	STAT3	chr18:12097954-12098113	GM12878	blood:	n/a	n/a
11	STAT3	chr18:12098512-12098613	MCF10A-Er-Src	breast:	n/a	chr18:12098571-12098580 chr18:12098566-12098586 chr18:12098572-12098580 chr18:12098572-12098581 chr18:12098569-12098583

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:12088519..12091150-chr18:12096385..12097943,2	K562	blood:
2	chr18:12092426..12095170-chr18:12097480..12099654,2	K562	blood:

Variant related genes	Relation type
ANKRD62	TF binding region
RNU6-324P	TF binding region
ENSG00000267478	TF binding region
ENSG00000267478	chromatin interactions
ENSG00000181626	chromatin interactions

Extended variants
information (count: 41 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:41 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs34917426	chr18:12097834-12097835	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs537681034	chr18:12097841-12097842	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs182651016	chr18:12097844-12097845	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs186191663	chr18:12097874-12097875	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs545897841	chr18:12097936-12097937	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs77255165	chr18:12097942-12097943	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs573198863	chr18:12097960-12097961	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs540919155	chr18:12097961-12097962	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs562274006	chr18:12097993-12097994	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs529495627	chr18:12098054-12098055	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs7227838	chr18:12098063-12098064	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
12	rs529676826	chr18:12098081-12098082	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
13	rs563076948	chr18:12098143-12098144	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs533017058	chr18:12098161-12098162	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs551227002	chr18:12098162-12098163	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs141206011	chr18:12098181-12098182	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs527315121	chr18:12098198-12098199	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs549241773	chr18:12098206-12098207	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs79837145	chr18:12098271-12098272	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs146939801	chr18:12098325-12098326	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs147553034	chr18:12098341-12098342	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
22	rs566431826	chr18:12098355-12098356	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs571121039	chr18:12098374-12098375	Weak transcription	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs539539128	chr18:12098417-12098418	Weak transcription Enhancers	TF binding region Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs558017893	chr18:12098437-12098438	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
26	rs191116584	chr18:12098438-12098439	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
27	rs183427236	chr18:12098439-12098440	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
28	rs187508980	chr18:12098461-12098462	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs149113052	chr18:12098553-12098554	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs111431130	chr18:12098577-12098578	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
31	rs544929548	chr18:12098607-12098608	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
32	rs563061859	chr18:12098629-12098630	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
33	rs8084767	chr18:12098631-12098632	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
34	rs545064725	chr18:12098632-12098633	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
35	rs143163693	chr18:12098634-12098635	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
36	rs552351694	chr18:12098649-12098650	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
37	rs116009322	chr18:12098650-12098651	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
38	rs9955653	chr18:12098679-12098680	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
39	rs376391540	chr18:12098680-12098681	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
40	rs560557626	chr18:12098693-12098694	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
41	rs531464848	chr18:12098694-12098695	Weak transcription Enhancers	TF binding region Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Autism	20531469	CNVD
Breast cancer	22522925	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12096000-12100400	Weak transcription	Pancreas	Pancrea
2	chr18:12098400-12099400	Enhancers	GM12878-XiMat	blood

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