Variant report

Variant	nsv130656
Chromosome Location	chr18:12425482-12426552
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12423760..12426090-chr18:12656515..12659098,3	MCF-7	breast:
2	chr18:12422525..12425509-chr18:12660961..12663016,2	MCF-7	breast:
3	chr18:12423021..12425076-chr18:12425258..12426812,2	K562	blood:
4	chr18:12419727..12422689-chr18:12423004..12425928,2	K562	blood:
5	chr18:12407282..12409335-chr18:12423368..12426046,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000128789	chromatin interactions
ENSG00000215527	chromatin interactions
ENSG00000134278	chromatin interactions
ENSG00000141391	chromatin interactions

Extended variants
information (count: 87 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:87 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs563636948	chr18:12425488-12425489	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
2	rs544045381	chr18:12425503-12425504	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
3	rs376472952	chr18:12425504-12425505	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
4	rs544230222	chr18:12425508-12425509	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
5	rs535279728	chr18:12425517-12425518	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
6	rs190166483	chr18:12425535-12425536	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
7	rs577917838	chr18:12425558-12425559	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
8	rs544857818	chr18:12425569-12425570	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
9	rs567501954	chr18:12425578-12425579	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
10	rs182542126	chr18:12425579-12425580	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
11	rs527451561	chr18:12425609-12425610	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
12	rs12605079	chr18:12425614-12425615	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs546729587	chr18:12425617-12425618	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
14	rs571738773	chr18:12425631-12425632	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
15	rs562242312	chr18:12425661-12425662	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
16	rs529357176	chr18:12425697-12425698	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
17	rs550997603	chr18:12425718-12425719	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
18	rs569108037	chr18:12425726-12425727	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
19	rs533675273	chr18:12425747-12425748	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
20	rs552068381	chr18:12425748-12425749	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
21	rs12605067	chr18:12425795-12425796	Weak transcription	Chromatin interactive region	4 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
22	rs534423033	chr18:12425854-12425855	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
23	rs555981700	chr18:12425858-12425859	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
24	rs78043364	chr18:12425946-12425947	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
25	rs373149892	chr18:12425988-12425989	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
26	rs538874336	chr18:12425993-12425994	Weak transcription	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
27	rs143034866	chr18:12426017-12426018	Weak transcription ZNF genes & repeats	Chromatin interactive region	4 gene(s)	Overlapped CNVs	n/a
28	rs537542697	chr18:12426061-12426062	Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
29	rs537564516	chr18:12426078-12426079	Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
30	rs187198435	chr18:12426099-12426100	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
31	rs577527502	chr18:12426131-12426132	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
32	rs544920498	chr18:12426132-12426133	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
33	rs553624134	chr18:12426142-12426143	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
34	rs571990306	chr18:12426191-12426192	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
35	rs542451034	chr18:12426223-12426224	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
36	rs192804545	chr18:12426232-12426233	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
37	rs557346902	chr18:12426236-12426237	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
38	rs377596569	chr18:12426276-12426277	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
39	rs544337237	chr18:12426279-12426280	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
40	rs536515661	chr18:12426281-12426282	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
41	rs533335763	chr18:12426282-12426283	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
42	rs147030140	chr18:12426290-12426291	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
43	rs555342529	chr18:12426293-12426294	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
44	rs527981854	chr18:12426308-12426309	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
45	rs370721522	chr18:12426320-12426321	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
46	rs138594213	chr18:12426322-12426323	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
47	rs185464117	chr18:12426324-12426325	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
48	rs9952689	chr18:12426325-12426326	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
49	rs28409975	chr18:12426328-12426329	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
50	rs144084361	chr18:12426329-12426330	Weak transcription ZNF genes & repeats	n/a	n/a	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
Non-syndromic sensorineural hearing loss	17122850	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12410400-12430400	Weak transcription	A549	lung
2	chr18:12418200-12430400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr18:12420200-12434800	Weak transcription	Stomach Mucosa	stomach
4	chr18:12420400-12426800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:12420600-12426600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr18:12420600-12426600	Weak transcription	HSMM	muscle
7	chr18:12420600-12426600	Weak transcription	HSMMtube	muscle
8	chr18:12420600-12426600	Weak transcription	HUVEC	blood vessel
9	chr18:12420600-12426600	Weak transcription	NHEK	skin
10	chr18:12420600-12426800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr18:12420600-12427000	Weak transcription	Fetal Lung	lung
12	chr18:12420600-12427200	Weak transcription	NHDF-Ad	bronchial
13	chr18:12420600-12427800	Weak transcription	HMEC	breast
14	chr18:12420600-12430000	Weak transcription	Pancreas	Pancrea
15	chr18:12420600-12432400	Weak transcription	Left Ventricle	heart
16	chr18:12420600-12432600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr18:12420600-12433600	Weak transcription	Duodenum Mucosa	Duodenum
18	chr18:12420600-12443600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr18:12420600-12477600	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr18:12420800-12427000	Weak transcription	Aorta	Aorta
21	chr18:12421000-12427200	Weak transcription	Lung	lung
22	chr18:12421200-12426600	Weak transcription	Ovary	ovary
23	chr18:12421200-12426800	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr18:12421200-12429600	Weak transcription	Gastric	stomach
25	chr18:12421200-12429600	Weak transcription	Spleen	Spleen
26	chr18:12421200-12432400	Weak transcription	Esophagus	oesophagus
27	chr18:12421200-12443400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr18:12421200-12447600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr18:12421200-12452800	Weak transcription	Colonic Mucosa	Colon
30	chr18:12421400-12426800	Weak transcription	NH-A	brain
31	chr18:12421400-12426800	Weak transcription	Osteobl	bone
32	chr18:12421400-12427000	Weak transcription	Fetal Intestine Large	intestine
33	chr18:12421400-12430800	Weak transcription	Adipose Nuclei	Adipose
34	chr18:12421400-12431200	Weak transcription	Right Ventricle	heart
35	chr18:12421400-12433600	Weak transcription	Placenta	Placenta
36	chr18:12421400-12434600	Weak transcription	Colon Smooth Muscle	Colon
37	chr18:12421400-12444200	Weak transcription	Rectal Smooth Muscle	rectum
38	chr18:12421600-12426600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr18:12421600-12426600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr18:12421600-12426600	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr18:12421600-12426600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr18:12421600-12426600	Weak transcription	Brain Anterior Caudate	brain
43	chr18:12421600-12426600	Weak transcription	Brain Hippocampus Middle	brain
44	chr18:12421600-12426800	Weak transcription	Fetal Kidney	kidney
45	chr18:12421600-12427000	Weak transcription	Brain Substantia Nigra	brain
46	chr18:12421800-12426600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr18:12421800-12426600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr18:12421800-12426600	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr18:12421800-12426600	Weak transcription	Brain Germinal Matrix	brain
50	chr18:12421800-12427200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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