Variant report

Variant	nsv960654
Chromosome Location	chr18:11648904-11660914
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 2)
miRNA target
sites (count:0)

No data

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

No.	Distal block	Cell Line	Cell type
1	chr18:11655236..11655924-chr18:11727968..11728476,2	K562	blood:
2	chr18:11654743..11655947-chr18:11727618..11729060,12	MCF-7	breast:
3	chr18:11655387..11655979-chr18:11872228..11873107,2	K562	blood:
4	chr18:11657895..11660470-chr18:11661097..11663962,2	MCF-7	breast:
5	chr18:11655388..11656100-chr18:12038645..12039575,5	K562	blood:
6	chr18:11654951..11655937-chr18:12038618..12039570,4	MCF-7	breast:
7	chr18:11655048..11655607-chr18:11872604..11873166,2	MCF-7	breast:
8	chr18:11655089..11656096-chr18:11727971..11728882,3	MCF-7	breast:
9	chr18:11655178..11656126-chr18:11669198..11670176,2	K562	blood:
10	chr18:11655087..11655796-chr18:11872223..11873116,3	MCF-7	breast:
11	chr18:11654974..11655700-chr18:11995123..11996004,2	K562	blood:
12	chr18:11656418..11657368-chr18:11727926..11728839,2	MCF-7	breast:

No data

miRNA name	Chromosome Location	mirBase accession
hsa-miR-7153-3p	chr18:11654884-11654901	MIMAT0028217
hsa-miR-7153-5p	chr18:11654918-11654940	MIMAT0028216

No data

Variant related genes	Relation type
ENSG00000141404	chromatin interactions
ENSG00000260759	chromatin interactions

Extended variants
information (count: 528 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:528 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs1785222	chr18:11648914-11648915	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs114940731	chr18:11648943-11648944	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs554018111	chr18:11648957-11648958	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs572237073	chr18:11649002-11649003	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1054049	chr18:11649004-11649005	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs554930599	chr18:11649007-11649008	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs12970663	chr18:11649014-11649015	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs573918162	chr18:11649048-11649049	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs544636074	chr18:11649063-11649064	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs562736360	chr18:11649083-11649084	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs578052241	chr18:11649125-11649126	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs548170106	chr18:11649127-11649128	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs146671293	chr18:11649132-11649133	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs11662310	chr18:11649155-11649156	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs527765244	chr18:11649160-11649161	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs549146511	chr18:11649168-11649169	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs148475627	chr18:11649211-11649212	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs531907411	chr18:11649223-11649224	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs554269406	chr18:11649236-11649237	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs71172017	chr18:11649256-11649257	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs11662374	chr18:11649257-11649258	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs368049686	chr18:11649269-11649270	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs376338450	chr18:11649275-11649276	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs113300006	chr18:11649282-11649283	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs571114279	chr18:11649318-11649319	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs375773534	chr18:11649326-11649327	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs150981822	chr18:11649335-11649336	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs565756920	chr18:11649339-11649340	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs536484430	chr18:11649374-11649375	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs570940291	chr18:11649384-11649385	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs368986531	chr18:11649394-11649395	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs182054962	chr18:11649396-11649397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs375977802	chr18:11649400-11649401	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs112004796	chr18:11649410-11649411	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs538007750	chr18:11649411-11649412	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs1382116	chr18:11649432-11649433	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs545144254	chr18:11649481-11649482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs113627370	chr18:11649514-11649515	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs58778064	chr18:11649527-11649528	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs577927459	chr18:11649528-11649529	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs545121929	chr18:11649535-11649536	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74557698	chr18:11649575-11649576	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs150141950	chr18:11649609-11649610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs112468313	chr18:11649614-11649615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs542858334	chr18:11649624-11649625	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs561275575	chr18:11649626-11649627	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs532039209	chr18:11649699-11649700	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs543723229	chr18:11649787-11649788	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs111763999	chr18:11649808-11649809	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs62098145	chr18:11649812-11649813	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	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
abnormal development	18461090	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

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11648200-11655000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr18:11651200-11651400	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr18:11651800-11652000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr18:11652000-11654000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr18:11652200-11653200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr18:11652600-11652800	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr18:11652600-11653000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr18:11652800-11653000	Bivalent Enhancer	HepG2	liver
9	chr18:11653600-11653800	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
10	chr18:11654000-11656400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr18:11654200-11655200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr18:11654200-11655200	Enhancers	NHEK	skin
13	chr18:11654200-11656200	Enhancers	HMEC	breast
14	chr18:11654400-11655200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr18:11654400-11655800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr18:11654800-11655200	Enhancers	Fetal Brain Female	brain
17	chr18:11655000-11655200	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
18	chr18:11655000-11655200	Bivalent Enhancer	Adipose Nuclei	Adipose
19	chr18:11655000-11655400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr18:11655000-11655400	Enhancers	Fetal Thymus	thymus
21	chr18:11655000-11655400	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
22	chr18:11655000-11655400	Enhancers	A549	lung
23	chr18:11655000-11655600	Bivalent Enhancer	Placenta	Placenta
24	chr18:11655000-11655600	Enhancers	Ovary	ovary
25	chr18:11655000-11655800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
26	chr18:11655000-11655800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
27	chr18:11655200-11655400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
28	chr18:11655200-11655400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr18:11655200-11655400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr18:11655200-11655400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr18:11655200-11655400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
32	chr18:11655200-11655400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
33	chr18:11655200-11655400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr18:11655200-11655400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr18:11655200-11655400	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr18:11655200-11655400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr18:11655200-11655400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
38	chr18:11655200-11655400	Flanking Bivalent TSS/Enh	Liver	Liver
39	chr18:11655200-11655400	Bivalent Enhancer	Brain Hippocampus Middle	brain
40	chr18:11655200-11655400	Enhancers	Fetal Brain Male	brain
41	chr18:11655200-11655600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr18:11655200-11655600	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr18:11655200-11655600	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
44	chr18:11655200-11655600	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
45	chr18:11655200-11655600	Enhancers	Colon Smooth Muscle	Colon
46	chr18:11655200-11655600	Enhancers	Placenta Amnion	Placenta Amnion
47	chr18:11655200-11655600	Bivalent Enhancer	Right Ventricle	heart
48	chr18:11655200-11655600	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
49	chr18:11655200-11655800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
50	chr18:11655200-11655800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

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