Variant report

Variant	esv3462214
Chromosome Location	chr3:99785228-99785761
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	chr3:99535064..99536649-chr3:99785344..99788184,2	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550057940	chr3:99785242-99785243	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs552752190	chr3:99785265-99785266	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs367962638	chr3:99785357-99785358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs62285466	chr3:99785359-99785360	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs545356638	chr3:99785392-99785393	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs570912152	chr3:99785525-99785526	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376465349	chr3:99785549-99785550	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs535235408	chr3:99785617-99785618	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs553262730	chr3:99785622-99785623	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs199940106	chr3:99785626-99785627	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs574954076	chr3:99785655-99785656	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs535805854	chr3:99785692-99785693	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs184604488	chr3:99785714-99785715	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs17314977	chr3:99785730-99785731	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
15	rs542964637	chr3:99785754-99785755	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Renal cell carcinoma	21668985	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Breast cancer	17603634	CNVD
Uveal melanoma	20484589	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Hirschsprung''s Disease	21712996	CNVD
Hepatocellular carcinoma	16750200	CNVD
Cancer	21183584	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Bipolar disorder	20877625	CNVD
Bipolar disorder	21956041	CNVD
Bipolar disorder	22241247	CNVD
Biliary cancer	18923514	CNVD
Prostate cancer	21965145	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
Neurodevelopmental disorder	22521361	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
microdeletion syndrome	22180640	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
Myelofibrosis	22110671	CNVD
Epilepsy	21858020	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	20877625	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99713600-99787800	Weak transcription	Primary T cells from cord blood	blood
2	chr3:99767600-99801000	Weak transcription	HSMM	muscle
3	chr3:99768400-99788000	Weak transcription	Primary B cells from cord blood	blood
4	chr3:99770800-99787600	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:99774000-99794800	Weak transcription	Stomach Mucosa	stomach
6	chr3:99775000-99785800	Weak transcription	Fetal Intestine Small	intestine
7	chr3:99777400-99787800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr3:99778600-99787800	Weak transcription	Right Atrium	heart
9	chr3:99780600-99786000	Weak transcription	Fetal Intestine Large	intestine
10	chr3:99783000-99785800	Weak transcription	Small Intestine	intestine
11	chr3:99783000-99787600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr3:99783200-99786600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr3:99783200-99787800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr3:99783200-99792400	Weak transcription	Psoas Muscle	Psoas
15	chr3:99783200-99793600	Weak transcription	Aorta	Aorta
16	chr3:99783400-99785800	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr3:99783400-99791400	Enhancers	HepG2	liver
18	chr3:99783600-99787800	Weak transcription	Colon Smooth Muscle	Colon
19	chr3:99783600-99787800	Weak transcription	Ovary	ovary
20	chr3:99783600-99787800	Weak transcription	Rectal Smooth Muscle	rectum
21	chr3:99783600-99787800	Weak transcription	NHDF-Ad	bronchial
22	chr3:99783600-99787800	Weak transcription	Osteobl	bone
23	chr3:99783600-99788200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:99783600-99788600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr3:99783600-99791200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr3:99783600-99792200	Weak transcription	Fetal Lung	lung
27	chr3:99784200-99787800	Weak transcription	NHLF	lung
28	chr3:99784200-99791400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:99784200-99792400	Weak transcription	Fetal Stomach	stomach
30	chr3:99784400-99786600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr3:99784400-99789400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:99785200-99785600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:99785600-99786200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr3:99785600-99786400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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