Variant report

Variant	esv1162415
Chromosome Location	chr4:1266937-1267280
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:1266888..1269769-chr4:1282587..1285904,3	MCF-7	breast:
2	chr4:1265257..1267082-chr4:1285469..1287790,2	K562	blood:
3	chr4:1266374..1269150-chr4:1278693..1281595,2	K562	blood:

Variant related genes	Relation type
ENSG00000090316	chromatin interactions

Extended variants
information (count: 18 )
Associated
traits (count: 61 )

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs181430747	chr4:1266944-1266945	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs545507682	chr4:1266974-1266975	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs186594703	chr4:1267029-1267030	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs73793177	chr4:1267035-1267036	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
5	rs190585987	chr4:1267152-1267153	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs73793178	chr4:1267160-1267161	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs546992579	chr4:1267172-1267173	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs72501964	chr4:1267203-1267204	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
9	rs546780685	chr4:1267217-1267218	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs111246365	chr4:1267218-1267219	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs74213707	chr4:1267227-1267228	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs71614961	chr4:1267232-1267233	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs571485613	chr4:1267243-1267244	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs71614960	chr4:1267258-1267259	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs71604398	chr4:1267268-1267269	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs538306903	chr4:1267274-1267275	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs368749261	chr4:1267276-1267277	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs180917309	chr4:1267277-1267278	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:61)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Wolf-Hirschhorn syndrome	21549014	CNVD
Breast cancer	21806811	CNVD
Wolf-Hirschhorn syndrome	22283845	CNVD
Wolf-Hirschhorn syndrome	16773131	CNVD
Mental retardation	16773131	CNVD
Wolf-Hirschhorn syndrome	22470819	CNVD
Wolf-Hirschhorn syndrome	18541967	CNVD
sporadic birth defects	19047251	CNVD
Acute lymphoblastic leukemia	21098271	CNVD
Retinitis pigmentosa	18421352	CNVD
Wolf-Hirschhorn syndrome	19259404	CNVD
Bladder cancer	19242612	CNVD
Breast cancer	19242612	CNVD
Congenital anomalies of the kidney and urinary tract	19242612	CNVD
abnormal development	18461090	CNVD
Olfactory neuroblastoma	18408657	CNVD
Wilms tumour	21544195	CNVD
Melanoma	20688739	CNVD
Colorectal cancer	16272173	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Breast cancer	17603634	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Colorectal cancer	19359472	CNVD
Neuroblastoma	17533364	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Cancer	21637783	CNVD
Melanoma	21693616	CNVD
Squamous cell cancer	21044232	CNVD
Colorectal cancer	20709793	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Non-small cell lung cancer	21044232	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	17387387	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Cervical cancer	21062161	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Neuroblastoma	18923191	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	17142309	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Developmental delay	21147756	CNVD
Urothelial carcinoma	21177765	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	20932292	CNVD

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:1245400-1282400	Weak transcription	Brain Angular Gyrus	brain
2	chr4:1245800-1278600	Weak transcription	Gastric	stomach
3	chr4:1245800-1282600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr4:1245800-1282600	Weak transcription	Right Ventricle	heart
5	chr4:1246000-1282600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr4:1254800-1282400	Weak transcription	Pancreas	Pancrea
7	chr4:1255000-1273000	Weak transcription	Spleen	Spleen
8	chr4:1257000-1272000	Weak transcription	Aorta	Aorta
9	chr4:1259400-1283000	Weak transcription	Ovary	ovary
10	chr4:1259800-1270600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr4:1263400-1282600	Weak transcription	Brain Hippocampus Middle	brain
12	chr4:1263800-1282800	Weak transcription	Brain Anterior Caudate	brain
13	chr4:1264200-1271800	Weak transcription	Primary B cells from peripheral blood	blood
14	chr4:1265200-1280000	Weak transcription	Brain Cingulate Gyrus	brain

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