Variant report

Variant	nsv576528
Chromosome Location	chr18:13262058-13263192
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	chr18:13261882..13264045-chr18:13540401..13542351,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168675	chromatin interactions

Extended variants
information (count: 106 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:106 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs9748242	chr18:13262058-13262059	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs373311648	chr18:13262059-13262060	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs9748644	chr18:13262062-13262063	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs572528734	chr18:13262069-13262070	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs60178302	chr18:13262101-13262102	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs71215204	chr18:13262118-13262119	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs9748243	chr18:13262119-13262120	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs62097315	chr18:13262128-13262129	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs74193780	chr18:13262136-13262137	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs182736843	chr18:13262148-13262149	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs9748646	chr18:13262152-13262153	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs12955642	chr18:13262178-13262179	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs60494584	chr18:13262182-13262183	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs61396088	chr18:13262189-13262190	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs111287341	chr18:13262193-13262194	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs71215205	chr18:13262272-13262273	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs61052364	chr18:13262289-13262290	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs74196045	chr18:13262298-13262299	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs60371417	chr18:13262312-13262313	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs55715176	chr18:13262319-13262320	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs370327860	chr18:13262334-13262335	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs56150410	chr18:13262338-13262339	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs62097318	chr18:13262364-13262365	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs62097319	chr18:13262368-13262369	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs71353257	chr18:13262374-13262375	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs71363154	chr18:13262375-13262376	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs71353256	chr18:13262394-13262395	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs375486768	chr18:13262398-13262399	Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs199713055	chr18:13262424-13262425	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs62097320	chr18:13262427-13262428	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs76963834	chr18:13262428-13262429	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs36022471	chr18:13262430-13262431	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs74218058	chr18:13262434-13262435	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs111687934	chr18:13262454-13262455	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs371678794	chr18:13262458-13262459	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs200558621	chr18:13262483-13262484	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs374972979	chr18:13262484-13262485	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs201634487	chr18:13262488-13262489	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs372592322	chr18:13262494-13262495	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs77729764	chr18:13262510-13262511	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs112170826	chr18:13262514-13262515	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs369842095	chr18:13262518-13262519	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs7231607	chr18:13262524-13262525	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs565156397	chr18:13262544-13262545	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs376734003	chr18:13262545-13262546	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs76950945	chr18:13262548-13262549	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs113379085	chr18:13262574-13262575	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs76550148	chr18:13262580-13262581	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs531994667	chr18:13262584-13262585	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs111354611	chr18:13262587-13262588	Weak transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	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
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	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
Urothelial carcinoma	21177765	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:129 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13243600-13278200	Weak transcription	Dnd41	blood
2	chr18:13253000-13267800	Weak transcription	Gastric	stomach
3	chr18:13256200-13262400	Enhancers	Brain Anterior Caudate	brain
4	chr18:13256800-13268400	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr18:13258600-13262200	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr18:13258600-13262400	Enhancers	Fetal Heart	heart
7	chr18:13258600-13268600	Enhancers	Right Ventricle	heart
8	chr18:13258800-13262200	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr18:13258800-13262200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
10	chr18:13258800-13262200	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr18:13258800-13262200	Enhancers	Left Ventricle	heart
12	chr18:13258800-13262400	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr18:13258800-13262400	Enhancers	Colon Smooth Muscle	Colon
14	chr18:13258800-13262400	Enhancers	Fetal Lung	lung
15	chr18:13258800-13262400	Enhancers	Placenta	Placenta
16	chr18:13258800-13262400	Enhancers	Spleen	Spleen
17	chr18:13258800-13262400	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr18:13259000-13262200	Enhancers	Brain Hippocampus Middle	brain
19	chr18:13259000-13262200	Enhancers	Right Atrium	heart
20	chr18:13259200-13262600	Enhancers	Lung	lung
21	chr18:13259200-13280000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr18:13259600-13262200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr18:13259800-13262200	Enhancers	Primary T helper naive cells from peripheral blood	blood
24	chr18:13259800-13262200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr18:13259800-13262400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr18:13259800-13262400	Enhancers	Primary hematopoietic stem cells	blood
27	chr18:13259800-13262400	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr18:13259800-13262400	Enhancers	Brain Substantia Nigra	brain
29	chr18:13259800-13262400	Enhancers	Esophagus	oesophagus
30	chr18:13259800-13262400	Enhancers	Fetal Muscle Trunk	muscle
31	chr18:13259800-13267800	Enhancers	Fetal Brain Male	brain
32	chr18:13260000-13262200	Enhancers	Brain Angular Gyrus	brain
33	chr18:13260000-13262400	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr18:13260000-13263800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr18:13260000-13266200	Enhancers	Rectal Smooth Muscle	rectum
36	chr18:13260200-13262200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr18:13260200-13262200	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr18:13260200-13262200	Enhancers	Aorta	Aorta
39	chr18:13260200-13262200	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr18:13260200-13262400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr18:13260200-13262400	Enhancers	Colonic Mucosa	Colon
42	chr18:13260400-13262400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
43	chr18:13260400-13262400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr18:13260600-13262400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr18:13260600-13263200	Weak transcription	Fetal Brain Female	brain
46	chr18:13260800-13262400	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr18:13260800-13268200	Weak transcription	Liver	Liver
48	chr18:13261000-13262200	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr18:13261000-13262400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr18:13261200-13262400	Enhancers	Primary B cells from peripheral blood	blood

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