Variant report

Variant	nsv525904
Chromosome Location	chr18:11873934-11879825
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:11731021..11733810-chr18:11873223..11875083,2	MCF-7	breast:

Extended variants
information (count: 335 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:335 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs624549	chr18:11873934-11873935	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs184363736	chr18:11873989-11873990	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs117377308	chr18:11873994-11873995	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs527573303	chr18:11874008-11874009	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs189690865	chr18:11874043-11874044	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs556290658	chr18:11874105-11874106	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs151258527	chr18:11874125-11874126	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs181334237	chr18:11874135-11874136	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs373905861	chr18:11874159-11874160	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs558245666	chr18:11874160-11874161	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs557389141	chr18:11874193-11874194	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs140437820	chr18:11874200-11874201	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs574864497	chr18:11874220-11874221	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs150490448	chr18:11874222-11874223	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs539775602	chr18:11874235-11874236	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs557728958	chr18:11874245-11874246	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs572944708	chr18:11874277-11874278	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs144002625	chr18:11874279-11874280	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs542004114	chr18:11874297-11874298	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs555669796	chr18:11874314-11874315	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs574149514	chr18:11874326-11874327	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs544494584	chr18:11874336-11874337	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs562555970	chr18:11874340-11874341	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs79294946	chr18:11874346-11874347	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs545127773	chr18:11874347-11874348	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs10543800	chr18:11874359-11874360	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs373902715	chr18:11874361-11874362	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs73945266	chr18:11874372-11874373	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs527310094	chr18:11874423-11874424	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs549268762	chr18:11874439-11874440	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs186860470	chr18:11874454-11874455	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs377535474	chr18:11874455-11874456	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs572339156	chr18:11874462-11874463	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs546002192	chr18:11874464-11874465	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs549716680	chr18:11874466-11874467	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs75726955	chr18:11874471-11874472	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs7237443	chr18:11874474-11874475	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs571468314	chr18:11874507-11874508	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs7237152	chr18:11874509-11874510	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs7237156	chr18:11874519-11874520	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs7237590	chr18:11874526-11874527	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs7237596	chr18:11874529-11874530	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs7237168	chr18:11874543-11874544	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs78963125	chr18:11874548-11874549	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs75938629	chr18:11874550-11874551	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs76594368	chr18:11874551-11874552	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs139711438	chr18:11874554-11874555	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs75455604	chr18:11874555-11874556	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs201413043	chr18:11874569-11874570	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs368636501	chr18:11874572-11874573	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

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
Congenital diaphragmatic hernia	21525063	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:193 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:11852400-11880800	Weak transcription	Aorta	Aorta
2	chr18:11853600-11883800	Weak transcription	Ovary	ovary
3	chr18:11853800-11884200	Weak transcription	Brain Substantia Nigra	brain
4	chr18:11854000-11875000	Weak transcription	Brain Hippocampus Middle	brain
5	chr18:11854000-11884200	Weak transcription	Brain Angular Gyrus	brain
6	chr18:11854800-11889200	Weak transcription	Fetal Brain Male	brain
7	chr18:11855400-11875400	Weak transcription	Fetal Stomach	stomach
8	chr18:11855600-11880800	Weak transcription	Fetal Brain Female	brain
9	chr18:11857800-11875200	Weak transcription	Brain Germinal Matrix	brain
10	chr18:11857800-11876400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr18:11858200-11884000	Weak transcription	Colon Smooth Muscle	Colon
12	chr18:11858600-11875800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr18:11858600-11879400	Weak transcription	Adipose Nuclei	Adipose
14	chr18:11859000-11886400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr18:11859200-11875600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr18:11860200-11875200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr18:11860200-11875400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr18:11861000-11880800	Weak transcription	Esophagus	oesophagus
19	chr18:11861800-11887800	Weak transcription	Psoas Muscle	Psoas
20	chr18:11862400-11879200	Weak transcription	Spleen	Spleen
21	chr18:11865400-11874200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr18:11867200-11884000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr18:11867200-11884400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr18:11867400-11880800	Weak transcription	Duodenum Mucosa	Duodenum
25	chr18:11868200-11875400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr18:11868800-11877600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr18:11869000-11874000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr18:11869000-11875600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr18:11869000-11876000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr18:11869000-11877800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
31	chr18:11869000-11877800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr18:11871200-11875400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr18:11871600-11884000	Weak transcription	Colonic Mucosa	Colon
34	chr18:11871600-11884200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr18:11871800-11874600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr18:11871800-11875200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr18:11871800-11884400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr18:11871800-11885000	Weak transcription	NHEK	skin
39	chr18:11872400-11875000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr18:11872400-11884400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr18:11872400-11884400	Weak transcription	Hela-S3	cervix
42	chr18:11872600-11875200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr18:11872800-11874200	Strong transcription	Brain Anterior Caudate	brain
44	chr18:11872800-11880800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr18:11873000-11875400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr18:11873000-11875400	Weak transcription	Fetal Intestine Small	intestine
47	chr18:11873000-11880800	Weak transcription	Gastric	stomach
48	chr18:11873000-11880800	Weak transcription	Right Ventricle	heart
49	chr18:11873000-11882200	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr18:11873000-11884000	Weak transcription	Fetal Muscle Trunk	muscle

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