Variant report

Variant	nsv131761
Chromosome Location	chr18:12591993-12593952
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12590720..12592550-chr18:12594454..12597445,2	MCF-7	breast:
2	chr18:12590605..12592377-chr18:12592631..12594749,2	K562	blood:
3	chr18:12588552..12590477-chr18:12592485..12594002,2	MCF-7	breast:
4	chr18:12590605..12592377-chr18:12592631..12594749,2	K562	blood:
5	chr18:12375821..12377792-chr18:12591523..12594152,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000141385	chromatin interactions

Extended variants
information (count: 75 )
Associated
traits (count: 57 )

Variant overlapped rSNPs/rCNVs (count:75 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs556680793	chr18:12592011-12592012	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs556289869	chr18:12592013-12592014	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs577685336	chr18:12592053-12592054	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs528971524	chr18:12592070-12592071	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs184612807	chr18:12592074-12592075	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs572069509	chr18:12592075-12592076	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs528344815	chr18:12592095-12592096	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs547376089	chr18:12592110-12592111	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs547136967	chr18:12592119-12592120	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs565596863	chr18:12592132-12592133	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs576253091	chr18:12592159-12592160	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs72879317	chr18:12592162-12592163	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs199963554	chr18:12592209-12592210	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs372832074	chr18:12592230-12592231	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs565070834	chr18:12592250-12592251	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs533300123	chr18:12592289-12592290	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs187649252	chr18:12592310-12592311	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs370043996	chr18:12592321-12592322	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs560159991	chr18:12592330-12592331	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs36123387	chr18:12592420-12592421	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs75478649	chr18:12592514-12592515	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs569693283	chr18:12592550-12592551	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs373350956	chr18:12592552-12592553	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs567633357	chr18:12592604-12592605	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs191564191	chr18:12592644-12592645	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs555798159	chr18:12592667-12592668	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs184023703	chr18:12592673-12592674	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs112480435	chr18:12592717-12592718	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs188903093	chr18:12592723-12592724	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs538405217	chr18:12592733-12592734	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs557944083	chr18:12592752-12592753	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs553909692	chr18:12592802-12592803	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs548109749	chr18:12592849-12592850	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs536270260	chr18:12592953-12592954	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs535175802	chr18:12592976-12592977	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs149982246	chr18:12592993-12592994	Enhancers Weak transcription Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs376086419	chr18:12593032-12593033	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs147748099	chr18:12593040-12593041	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs543687541	chr18:12593044-12593045	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs564972366	chr18:12593094-12593095	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs576963010	chr18:12593095-12593096	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs540779216	chr18:12593107-12593108	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs560221220	chr18:12593173-12593174	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs527742965	chr18:12593207-12593208	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs548985001	chr18:12593237-12593238	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs560923171	chr18:12593288-12593289	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs578260767	chr18:12593324-12593325	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs531943422	chr18:12593325-12593326	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs541020679	chr18:12593376-12593377	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs373614947	chr18:12593381-12593382	Weak transcription	Chromatin interactive region	1 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	21293372	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12570000-12595600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:12587000-12592600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:12587800-12596800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr18:12588000-12595400	Weak transcription	Fetal Heart	heart
5	chr18:12588800-12595800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr18:12589600-12595400	Weak transcription	Brain Anterior Caudate	brain
7	chr18:12589600-12595800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr18:12589600-12597000	Weak transcription	Aorta	Aorta
9	chr18:12589800-12592600	Weak transcription	HepG2	liver
10	chr18:12589800-12595800	Weak transcription	Brain Hippocampus Middle	brain
11	chr18:12589800-12596000	Weak transcription	Fetal Kidney	kidney
12	chr18:12589800-12597200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr18:12589800-12597200	Weak transcription	Ovary	ovary
14	chr18:12589800-12597400	Weak transcription	Brain Angular Gyrus	brain
15	chr18:12590000-12597400	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr18:12590800-12597200	Weak transcription	Fetal Brain Male	brain
17	chr18:12590800-12597800	Weak transcription	Pancreas	Pancrea
18	chr18:12590800-12599200	Weak transcription	Liver	Liver
19	chr18:12591000-12592600	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr18:12591200-12596800	Weak transcription	Fetal Brain Female	brain
21	chr18:12591400-12595400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr18:12591400-12595600	Weak transcription	Brain Substantia Nigra	brain
23	chr18:12591400-12596800	Weak transcription	Left Ventricle	heart
24	chr18:12591400-12596800	Weak transcription	Right Atrium	heart
25	chr18:12592400-12592800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr18:12592400-12597600	Weak transcription	Colon Smooth Muscle	Colon
27	chr18:12592600-12592800	Enhancers	HUVEC	blood vessel
28	chr18:12592600-12593000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr18:12592600-12593000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
30	chr18:12592600-12593000	Enhancers	A549	lung
31	chr18:12592600-12593200	Enhancers	HepG2	liver
32	chr18:12592800-12595600	Weak transcription	HUVEC	blood vessel
33	chr18:12592800-12597800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr18:12593000-12593200	Enhancers	Pancreatic Islets	Pancreatic Islet
35	chr18:12593000-12596000	Weak transcription	A549	lung
36	chr18:12593000-12596800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr18:12593200-12594600	Weak transcription	HepG2	liver
38	chr18:12593200-12594800	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr18:12593400-12594200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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