Variant report

Variant	esv3380107
Chromosome Location	chr3:133602557-133602914
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133600203..133603946-chr3:133604240..133607293,3	MCF-7	breast:
2	chr3:133602674..133604300-chr3:133607787..133610295,2	K562	blood:
3	chr3:133583134..133585142-chr3:133602541..133605279,2	MCF-7	breast:

Extended variants
information (count: 14 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs185421622	chr3:133602563-133602564	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
2	rs539590759	chr3:133602569-133602570	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
3	rs76128576	chr3:133602617-133602618	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs147122587	chr3:133602629-133602630	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs1525886	chr3:133602665-133602666	Weak transcription Enhancers Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs538544386	chr3:133602781-133602782	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs138517276	chr3:133602806-133602807	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs575869197	chr3:133602807-133602808	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs538508537	chr3:133602814-133602815	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs10695356	chr3:133602908-133602909	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs33925623	chr3:133602909-133602910	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs3086472	chr3:133602911-133602912	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs369834407	chr3:133602912-133602913	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs374029234	chr3:133602913-133602914	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Cancer	21129771	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Multiple myeloma	17550852	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Hailey-hailey disease	17597066	CNVD
Intracranial aneurysm	16715129	CNVD
Lung cancer	16740712	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Myelofibrosis	22110671	CNVD
Primary central nervous system lymphoma	21088137	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
lymphocytic leukemia	21291569	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133590600-133606600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr3:133592400-133602800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr3:133592400-133605800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr3:133596400-133613600	Weak transcription	Gastric	stomach
5	chr3:133598600-133602800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:133598800-133610400	Weak transcription	Fetal Brain Male	brain
7	chr3:133599400-133602600	Weak transcription	Left Ventricle	heart
8	chr3:133599400-133602800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr3:133599600-133610600	Weak transcription	Pancreas	Pancrea
10	chr3:133599800-133603000	Weak transcription	Spleen	Spleen
11	chr3:133599800-133606200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr3:133600000-133603600	Enhancers	K562	blood
13	chr3:133600200-133603600	Enhancers	Stomach Mucosa	stomach
14	chr3:133600400-133602800	Enhancers	Placenta	Placenta
15	chr3:133601000-133608200	Enhancers	Brain Anterior Caudate	brain
16	chr3:133601200-133603600	Enhancers	Brain Substantia Nigra	brain
17	chr3:133601200-133612800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr3:133601400-133602800	Enhancers	Rectal Mucosa Donor 31	rectum
19	chr3:133601400-133603000	Enhancers	Colonic Mucosa	Colon
20	chr3:133601400-133604400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr3:133601400-133612800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr3:133601600-133602800	Enhancers	Rectal Mucosa Donor 29	rectum
23	chr3:133601600-133603000	Enhancers	Right Ventricle	heart
24	chr3:133601800-133607000	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr3:133602000-133602800	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr3:133602000-133603400	Enhancers	Adipose Nuclei	Adipose
27	chr3:133602000-133603400	Enhancers	Duodenum Mucosa	Duodenum
28	chr3:133602000-133603400	Enhancers	Ovary	ovary
29	chr3:133602200-133602600	Weak transcription	Brain Angular Gyrus	brain
30	chr3:133602200-133602600	Flanking Active TSS	Stomach Smooth Muscle	stomach
31	chr3:133602200-133603000	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr3:133602200-133603200	Strong transcription	Fetal Brain Female	brain
33	chr3:133602200-133603200	Enhancers	Fetal Muscle Trunk	muscle
34	chr3:133602200-133603200	Enhancers	Right Atrium	heart
35	chr3:133602200-133603600	Enhancers	Brain Cingulate Gyrus	brain
36	chr3:133602400-133603400	Weak transcription	Brain Hippocampus Middle	brain
37	chr3:133602400-133606200	Weak transcription	Brain Germinal Matrix	brain
38	chr3:133602600-133603200	Enhancers	Stomach Smooth Muscle	stomach
39	chr3:133602600-133603400	Enhancers	Brain Angular Gyrus	brain
40	chr3:133602600-133603800	Enhancers	Left Ventricle	heart
41	chr3:133602800-133603400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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